BMP4 (bone morphogenetic protein 4) - Rat Genome Database

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Gene: BMP4 (bone morphogenetic protein 4) Homo sapiens
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Symbol: BMP4
Name: bone morphogenetic protein 4
RGD ID: 730832
HGNC Page HGNC:1071
Description: Enables BMP receptor binding activity; co-receptor binding activity; and receptor ligand activity. Involved in several processes, including negative regulation of cell population proliferation; regulation of animal organ morphogenesis; and regulation of gene expression. Acts upstream of or within several processes, including positive regulation of osteoblast differentiation; regulation of transcription by RNA polymerase II; and respiratory system development. Located in extracellular space. Implicated in several diseases, including CAKUT (multiple); cleft lip; orofacial cleft 11; ossification of the posterior longitudinal ligament of spine; and syndromic microphthalmia 6. Biomarker of several diseases, including Barrett's esophagus; carcinoma (multiple); eye disease (multiple); myositis ossificans; and progressive osseous heteroplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMP-2B; BMP-4; BMP2B; BMP2B1; bone morphogenetic protein 2B; bone morphogenetic protein 4 preproprotein; MCOPS6; OFC11; ZYME
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381453,949,736 - 53,956,891 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1453,949,736 - 53,958,761 (-)EnsemblGRCh38hg38GRCh38
GRCh371454,416,454 - 54,423,609 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361453,486,204 - 53,493,304 (-)NCBINCBI36Build 36hg18NCBI36
Build 341453,486,206 - 53,491,020NCBI
Celera1434,466,196 - 34,473,296 (-)NCBICelera
Cytogenetic Map14q22.2NCBI
HuRef1434,579,652 - 34,586,754 (-)NCBIHuRef
CHM1_11454,355,438 - 54,362,538 (-)NCBICHM1_1
T2T-CHM13v2.01448,157,959 - 48,165,118 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
ACTH-secreting pituitary adenoma  (EXP)
Acute Otitis Media  (ISO)
Alzheimer's disease  (ISO)
amenorrhea  (IAGP)
Anorectal Malformations  (IEP,ISO)
APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS  (IAGP)
atrial heart septal defect  (IAGP)
atrioventricular septal defect  (ISS)
Axenfeld-Rieger syndrome type 3  (ISS)
Barrett's esophagus  (IEP,ISO)
Brain Hypoxia-Ischemia  (ISO)
breast cancer  (IEP)
Breast Neoplasms  (EXP)
CAKUT  (IAGP)
CAKUT2  (IAGP)
calcinosis  (IEP)
Cardiomegaly  (ISO)
cartilage disease  (IDA)
Cartilage Fractures  (IDA)
CHARGE syndrome  (ISO)
Choroidal Neovascularization  (ISO)
cleft lip  (IAGP)
Colorectal Neoplasms  (EXP)
congenital diaphragmatic hernia  (ISO)
Congenital Limb Deformities  (ISO)
Cranial Nerve Injuries  (ISO)
Diaphragmatic Hernia  (EXP)
dystonia 5  (IAGP)
Endometrioid Carcinomas  (IEP)
epilepsy  (ISO)
esophagitis  (IEP)
Experimental Liver Cirrhosis  (ISO)
Femoral Fractures  (IDA,ISO)
Fetal Growth Retardation  (ISO)
Focal Cortical Dysplasia of Taylor  (IEP)
genetic disease  (IAGP)
Gliosis  (ISO)
granulosa cell tumor  (ISO)
Hearing Loss  (ISO)
hereditary spastic paraplegia 28  (IAGP)
Hyperoxia  (ISO)
Kapur Toriello Syndrome  (IAGP)
keratoconus  (IEP)
macular degeneration  (IEP)
melanoma  (IAGP)
Multicystic Dysplastic Kidney  (IAGP)
myositis ossificans  (IEP)
ocular hypertension  (ISO)
Oral Lichen Planus  (IEP)
orofacial cleft  (IAGP)
orofacial cleft 11  (EXP,IAGP)
ossification of the posterior longitudinal ligament of spine  (IAGP)
osteoarthritis  (EXP)
Osteoarthritis, Experimental  (IDA)
osteoporosis  (EXP)
otosclerosis  (IAGP)
peptic esophagitis  (ISO)
Peters anomaly  (IAGP)
physical disorder  (ISS)
progressive osseous heteroplasia  (IEP)
prolactinoma  (EXP,IEP)
prostate carcinoma  (IEP)
psoriatic arthritis  (EXP)
renal cell carcinoma  (IEP)
rheumatoid arthritis  (EXP)
Skull Fractures  (IDA)
Spinal Cord Injuries  (IDA,ISO)
strabismus  (IEP)
Stroke  (ISO)
syndromic microphthalmia  (IAGP)
syndromic microphthalmia 6  (EXP,IAGP)
Tibial Fractures  (ISO)
tooth agenesis  (IAGP)
Tracheoesophageal Fistula  (ISO)
tuberous sclerosis  (IEP)
urinary system disease  (ISS)
Vitamin A Deficiency  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-amphetamine  (ISO)
(S)-nicotine  (ISO)
1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (ISO)
adenosine  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
aluminium oxide  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
angiotensin II  (ISO)
antimonite  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
atrazine  (ISO)
bacitracin  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (EXP)
busulfan  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
casticin  (EXP)
CGP 52608  (EXP)
CHIR 99021  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cordycepin  (EXP)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dichromium trioxide  (EXP)
diclofenac  (EXP)
Didecyldimethylammonium  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethylenediaminetetraacetic acid  (EXP)
Ethylenethiourea  (ISO)
flavonoids  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
hydrogen peroxide  (EXP,ISO)
icariin  (ISO)
iloprost  (EXP)
indole-3-methanol  (ISO)
isoprenaline  (ISO)
kaempferol  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
linuron  (ISO)
lipopolysaccharide  (EXP)
lithium chloride  (EXP)
maneb  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
metformin  (EXP)
methimazole  (ISO)
methotrexate  (EXP,ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
mitomycin C  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
naringin  (EXP)
nickel sulfate  (EXP)
nicotine  (ISO)
nitrates  (ISO)
nitrofen  (ISO)
ochratoxin A  (EXP)
octreotide  (EXP)
orphenadrine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
paricalcitol  (EXP)
pasireotide  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
pinosylvin  (EXP)
potassium chromate  (EXP)
progesterone  (ISO)
propiconazole  (ISO)
Ptaquiloside  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
retinyl acetate  (ISO)
rifampicin  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium chlorate  (ISO)
sodium dichromate  (EXP)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
trans-pinosylvin  (EXP)
trichostatin A  (EXP,ISO)
tyrphostin AG 1478  (EXP)
urethane  (EXP,ISO)
valproic acid  (EXP,ISO)
valsartan  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
XAV939  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
ameloblast differentiation  (IEA,ISO)
anatomical structure formation involved in morphogenesis  (IEA,ISO)
anatomical structure regression  (ISO)
angiogenesis  (IEA,ISO)
anterior/posterior axis specification  (IEA,ISO)
aortic valve morphogenesis  (IEA,ISS)
apoptotic process involved in endocardial cushion morphogenesis  (ISS)
blood vessel development  (IEA,ISO)
blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (IDA)
BMP signaling pathway  (IBA,IDA,IEA,IMP,ISS)
bone development  (IEA,ISO)
branching involved in prostate gland morphogenesis  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (IDA,IEA,ISO)
bronchus development  (IDA)
bud dilation involved in lung branching  (IDA)
bud elongation involved in lung branching  (IEA,ISO)
camera-type eye development  (IEA,ISO)
camera-type eye morphogenesis  (IEA,ISO)
cardiac jelly development  (ISS)
cardiac muscle cell differentiation  (IEA)
cardiac muscle hypertrophy in response to stress  (ISO)
cardiac right ventricle morphogenesis  (ISS)
cardiac septum development  (TAS)
cartilage development  (IEA)
cell differentiation  (IEA)
cell fate commitment  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cellular response to BMP stimulus  (IMP,ISO)
cellular response to dexamethasone stimulus  (ISO)
cellular response to growth factor stimulus  (IEA,ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to oxidative stress  (ISO)
cellular response to thyroid hormone stimulus  (ISO)
chondrocyte differentiation  (IEA,ISO,ISS)
coronary vasculature development  (IEA,ISS)
cranial suture morphogenesis  (IEA,ISO)
deltoid tuberosity development  (IEA,ISS)
dorsal/ventral neural tube patterning  (IEA,ISO)
embryonic cranial skeleton morphogenesis  (IEA,ISO)
embryonic digit morphogenesis  (IEA,ISO)
embryonic hindlimb morphogenesis  (IEA,ISO)
embryonic limb morphogenesis  (IEA,ISO)
embryonic morphogenesis  (IEA,ISO)
embryonic skeletal joint morphogenesis  (IEA,ISO)
embryonic skeletal system development  (IEA,ISO)
embryonic skeletal system morphogenesis  (IEA,ISO)
endocardial cushion development  (IEA,ISS)
endochondral ossification  (IEA,ISS)
endoderm development  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
epithelial cell proliferation involved in lung morphogenesis  (IDA)
epithelial to mesenchymal transition involved in endocardial cushion formation  (ISS)
epithelial tube branching involved in lung morphogenesis  (IDA,ISO)
epithelial-mesenchymal cell signaling  (IEA,ISO)
epithelium development  (IEA,ISO)
erythrocyte differentiation  (IEA,ISO)
eye development  (ISO)
forebrain development  (IEA,ISO)
gene expression  (IEA)
germ cell development  (IEA,ISO)
glomerular capillary formation  (IEA,ISS)
heart development  (IEA,ISO)
heart induction  (IMP)
heart morphogenesis  (IMP)
hematopoietic progenitor cell differentiation  (IDA,IEA,ISO)
inner ear auditory receptor cell differentiation  (IEA,ISO)
intermediate mesodermal cell differentiation  (IDA)
kidney development  (IEA,IMP,ISO)
lens induction in camera-type eye  (IEA,ISO)
lung alveolus development  (IDA)
lung development  (IEA,ISO)
lung lobe development  (ISO)
lung morphogenesis  (IDA)
lung vasculature development  (IMP)
lymphoid progenitor cell differentiation  (IMP)
macrophage differentiation  (IDA)
mammary gland formation  (IEA,ISO)
membranous septum morphogenesis  (IEA,ISS)
mesoderm formation  (IEA,ISO)
mesodermal cell differentiation  (IEA,ISO)
mesodermal cell fate determination  (IEA,ISO)
mesonephros development  (IEP)
metanephros development  (IEA,ISO)
monocyte differentiation  (IDA)
muscular septum morphogenesis  (ISS)
negative regulation of branching involved in ureteric bud morphogenesis  (IDA,IEA,ISO)
negative regulation of cell cycle  (IDA)
negative regulation of cell population proliferation  (IDA,IMP)
negative regulation of chondrocyte differentiation  (IEA,ISO)
negative regulation of DNA-templated transcription  (IDA)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of extrinsic apoptotic signaling pathway  (IEA,ISS)
negative regulation of gene expression  (IDA,IEA,ISO)
negative regulation of glomerular mesangial cell proliferation  (IDA)
negative regulation of glomerulus development  (IDA)
negative regulation of immature T cell proliferation in thymus  (IMP)
negative regulation of mesenchymal cell proliferation involved in ureter development  (IDA)
negative regulation of metanephric comma-shaped body morphogenesis  (IDA)
negative regulation of metanephric S-shaped body morphogenesis  (IDA)
negative regulation of miRNA transcription  (IDA)
negative regulation of mitotic nuclear division  (IDA)
negative regulation of myoblast differentiation  (IDA)
negative regulation of oligodendrocyte differentiation  (ISO)
negative regulation of prostatic bud formation  (IEA,ISO)
negative regulation of striated muscle tissue development  (IDA)
negative regulation of T cell differentiation in thymus  (IMP)
negative regulation of thymocyte apoptotic process  (IMP)
negative regulation of transcription by RNA polymerase II  (IDA,IEA,ISS)
negative regulation of vascular associated smooth muscle cell migration  (TAS)
negative regulation of vascular associated smooth muscle cell proliferation  (TAS)
nephric duct formation  (IDA)
neural tube closure  (IEA,ISO)
neuron fate commitment  (IEA,ISO)
odontogenesis  (IGI)
odontogenesis of dentin-containing tooth  (IEA,ISO)
organ induction  (IEA,ISO)
ossification  (IEA)
osteoblast differentiation  (IDA,IEA,ISO)
outflow tract morphogenesis  (IEA)
outflow tract septum morphogenesis  (IEA,ISS)
ovarian follicle development  (ISO)
pericyte cell differentiation  (IEA,ISO)
pharyngeal arch artery morphogenesis  (IEA,ISS)
pituitary gland development  (IEA,ISO)
positive chemotaxis  (IEA)
positive regulation of apoptotic process  (IDA)
positive regulation of BMP signaling pathway  (IEA,ISS)
positive regulation of bone mineralization  (IDA,ISO)
positive regulation of branching involved in lung morphogenesis  (IEA,ISS)
positive regulation of branching involved in ureteric bud morphogenesis  (ISO)
positive regulation of calcium ion transport into cytosol  (ISO)
positive regulation of cardiac muscle fiber development  (IMP)
positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis  (IEA)
positive regulation of cartilage development  (IDA)
positive regulation of cell migration  (IEA)
positive regulation of cell population proliferation  (IDA,IEA,ISO,ISS)
positive regulation of collagen biosynthetic process  (IDA)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of endothelial cell apoptotic process  (ISO)
positive regulation of endothelial cell differentiation  (IEA)
positive regulation of endothelial cell proliferation  (IEA)
positive regulation of epidermal cell differentiation  (IDA)
positive regulation of epithelial cell differentiation  (IEA,ISO)
positive regulation of epithelial cell proliferation  (IDA)
positive regulation of epithelial to mesenchymal transition  (IEA)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of gene expression  (IDA,IEA,ISO)
positive regulation of hepatocyte differentiation  (ISO)
positive regulation of mesenchymal stem cell proliferation  (ISO)
positive regulation of miRNA transcription  (IEA)
positive regulation of neuron differentiation  (IEA,ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of odontoblast differentiation  (IEA,ISS)
positive regulation of ossification  (IDA,IEA,ISO)
positive regulation of osteoblast differentiation  (IDA,ISO)
positive regulation of p38MAPK cascade  (IDA)
positive regulation of primary miRNA processing  (IDA)
positive regulation of programmed cell death  (IDA)
positive regulation of protein localization to nucleus  (IEA,ISS)
positive regulation of protein phosphorylation  (IDA,IEA)
positive regulation of SMAD protein signal transduction  (IDA,IMP)
positive regulation of smooth muscle cell proliferation  (IDA)
positive regulation of store-operated calcium channel activity  (ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,IGI,ISS)
post-embryonic development  (IDA,IEA)
prostate gland morphogenesis  (IEA,ISO)
prostatic bud formation  (IEA,ISO)
pulmonary valve morphogenesis  (IEA,ISS)
regulation of branching involved in prostate gland morphogenesis  (IEA,ISO)
regulation of cartilage development  (IEA,ISO)
regulation of cell differentiation  (IEA,ISO)
regulation of cell fate commitment  (IDA)
regulation of ERK1 and ERK2 cascade  (ISO)
regulation of gene expression  (IEA,ISO)
regulation of mesodermal cell differentiation  (IEA,ISO)
regulation of miRNA transcription  (IMP)
regulation of morphogenesis of a branching structure  (IEA,ISO)
regulation of odontogenesis of dentin-containing tooth  (IEA,ISO)
regulation of protein import into nucleus  (IDA)
regulation of smooth muscle cell differentiation  (IEA,ISO)
regulation of smooth muscle cell proliferation  (IEA,ISO)
renal system process  (IEA,ISO)
response to estradiol  (ISO)
response to glucocorticoid  (ISO)
response to mechanical stimulus  (ISO)
response to nitric oxide  (ISO)
response to organic cyclic compound  (ISO)
response to retinoic acid  (ISO)
response to testosterone  (ISO)
retina development in camera-type eye  (ISO)
secondary heart field specification  (IMP)
signal transduction  (IEA)
sinoatrial node development  (NAS)
skeletal system development  (IEA,ISO)
smooth muscle cell differentiation  (IEA,ISO)
smooth muscle tissue development  (IEA,IEP,ISS)
specification of animal organ position  (IEA,ISO)
telencephalon development  (IDA)
telencephalon regionalization  (IEA,ISO)
tendon cell differentiation  (IEA,ISS)
tongue morphogenesis  (ISO)
trachea development  (IDA)
trachea formation  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
type B pancreatic cell development  (IDA)
ureter morphogenesis  (IEA)
ureteric bud development  (IDA,IEA)
vasculature development  (IEA,ISO)

Cellular Component
endoplasmic reticulum lumen  (TAS)
extracellular region  (IEA,ISS,TAS)
extracellular space  (IBA,IDA,IEA,ISO,ISS)
vesicle  (ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal number of permanent teeth  (IAGP)
Abnormality of dental eruption  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Absent speech  (IAGP)
Adrenal hypoplasia  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agenesis of lateral incisor  (IAGP)
Anophthalmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Aplasia of the optic tract  (IAGP)
Aplasia/hypoplasia involving bones of the lower limbs  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Bilateral cleft palate  (IAGP)
Blindness  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chorioretinal coloboma  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coloboma  (IAGP)
Conductive hearing impairment  (IAGP)
Cryptorchidism  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed speech and language development  (IAGP)
Dental malocclusion  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Female hypogonadism  (IAGP)
Finger syndactyly  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hypernasal speech  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Inferior cerebellar vermis hypoplasia  (IAGP)
Iris coloboma  (IAGP)
Lambdoidal craniosynostosis  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Malnutrition  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microglossia  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Myopia  (IAGP)
Nail dysplasia  (IAGP)
Nystagmus  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Orbital cyst  (IAGP)
Orofacial cleft  (IAGP)
Palate fistula  (IAGP)
Peg-shaped maxillary lateral incisors  (IAGP)
Plagiocephaly  (IAGP)
Polydactyly  (IAGP)
Polygenic inheritance  (IAGP)
Poor suck  (IAGP)
Postaxial foot polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Primary amenorrhea  (IAGP)
Protruding ear  (IAGP)
Proximal placement of thumb  (IAGP)
Recurrent otitis media  (IAGP)
Renal hypoplasia  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Sclerocornea  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe muscular hypotonia  (IAGP)
Short middle phalanx of finger  (IAGP)
Single transverse palmar crease  (IAGP)
Small scrotum  (IAGP)
Small sella turcica  (IAGP)
Speech articulation difficulties  (IAGP)
Thumb contracture  (IAGP)
Toe syndactyly  (IAGP)
Tooth agenesis  (IAGP)
Unilateral cleft palate  (IAGP)
Uplifted earlobe  (IAGP)
Ureteropelvic junction obstruction  (IAGP)
Velopharyngeal insufficiency  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A comprehensive expression survey of bone morphogenetic proteins in breast cancer highlights the importance of BMP4 and BMP7. Alarmo EL, etal., Breast Cancer Res Treat. 2007 Jun;103(2):239-46. Epub 2006 Sep 21.
2. Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate. Araújo TK, etal., Plast Surg Int. 2012;2012:247104. doi: 10.1155/2012/247104. Epub 2012 Nov 27.
3. The role of bone morphogenetic protein 4 in inner ear development and function. Blauwkamp MN, etal., Hear Res. 2007 Mar;225(1-2):71-9. Epub 2006 Dec 28.
4. Dominant-stable beta-catenin expression causes cell fate alterations and Wnt signaling antagonist expression in a murine granulosa cell tumor model. Boerboom D, etal., Cancer Res. 2006 Feb 15;66(4):1964-73.
5. A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population. Capasso M, etal., J Cancer Res Clin Oncol. 2009 Dec;135(12):1799-807. doi: 10.1007/s00432-009-0628-y. Epub 2009 Jun 26.
6. Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure. Chang B, etal., BMC Genet. 2001;2:18. Epub 2001 Nov 6.
7. Faulty bone morphogenetic protein signaling in esophageal atresia with tracheoesophageal fistula. Crowley AR, etal., J Pediatr Surg. 2006 Jul;41(7):1208-13.
8. Transplanted astrocytes derived from BMP- or CNTF-treated glial-restricted precursors have opposite effects on recovery and allodynia after spinal cord injury. Davies JE, etal., J Biol. 2008 Sep 19;7(7):24. doi: 10.1186/jbiol85.
9. Gene expression pathways induced by axotomy and decentralization of rat superior cervical ganglion neurons. Del Signore A, etal., Eur J Neurosci. 2006 Jan;23(1):65-74.
10. Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling. Ealy M, etal., Otol Neurotol. 2014 Mar;35(3):395-400. doi: 10.1097/MAO.0000000000000244.
11. Bone morphogenetic protein 4 mediates bile duct ligation induced liver fibrosis through activation of Smad1 and ERK1/2 in rat hepatic stellate cells. Fan J, etal., J Cell Physiol. 2006 May;207(2):499-505.
12. The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. Fukada T, etal., PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5.
13. Bone morphogenetic proteins promote gliosis in demyelinating spinal cord lesions. Fuller ML, etal., Ann Neurol. 2007 Sep;62(3):288-300.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. Association of BMP4 polymorphisms with isolated tooth agenesis in a Chinese Han population: a case-control study. Gong M, etal., Eur Rev Med Pharmacol Sci. 2015 Jun;19(12):2188-94.
16. Expression of bone morphogenetic protein-4 in the cortical lesions of focal cortical dysplasia IIb and the tuberous sclerosis complex. Guo W, etal., J Mol Neurosci. 2013 May;50(1):7-13. doi: 10.1007/s12031-012-9841-2. Epub 2012 Jul 3.
17. Effect of a fibrin-fibronectin sealing system as a carrier for recombinant human bone morphogenetic protein-4 on bone formation in rat calvarial defects. Han DK, etal., J Periodontol. 2005 Dec;76(12):2216-22.
18. Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction. He JL, etal., Eur J Pediatr. 2012 Mar;171(3):451-6. doi: 10.1007/s00431-011-1561-z. Epub 2011 Sep 17.
19. Prenatal exposure to di-n-butyl phthalate induces anorectal malformations in male rat offspring. Jiang JT, etal., Toxicology. 2011 Dec 18;290(2-3):322-6. doi: 10.1016/j.tox.2011.10.008. Epub 2011 Oct 18.
20. The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline. Jiang X, etal., Am J Pathol. 2012 Aug;181(2):626-41. doi: 10.1016/j.ajpath.2012.05.006. Epub 2012 May 29.
21. Apoptosis of oral epithelial cells in oral lichen planus caused by upregulation of BMP-4. Kim SG, etal., J Oral Pathol Med. 2006 Jan;35(1):37-45.
22. The expression of molecular mediators in the idiopathic cutaneous calcification and ossification. Kim SY, etal., J Cutan Pathol. 2008 Sep;35(9):826-31. doi: 10.1111/j.1600-0560.2007.00904.x. Epub 2008 Apr 18.
23. Different levels of TIMPs and MMPs in human lateral and medial rectus muscle tissue excised from strabismic patients. Kitada M, etal., Strabismus. 2003 Sep;11(3):145-55.
24. Cartilage repair using bone morphogenetic protein 4 and muscle-derived stem cells. Kuroda R, etal., Arthritis Rheum. 2006 Feb;54(2):433-42.
25. Expression of bone morphogenetic proteins, the subfamily of the transforming growth factor-beta superfamily, in renal cell carcinoma. Kwak C, etal., J Urol. 2007 Sep;178(3 Pt 1):1062-7. Epub 2007 Jul 20.
26. Evaluation of differentially expressed genes identified in keratoconus. Lee JE, etal., Mol Vis. 2009 Nov 28;15:2480-7.
27. Zhonghua nan ke xue = National journal of andrology Li ZL, etal., Zhonghua Nan Ke Xue. 2006 Feb;12(2):126-8, 132.
28. Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. Lin JY, etal., DNA Cell Biol. 2008 Nov;27(11):601-5. doi: 10.1089/dna.2008.0777.
29. Sonic hedgehog, BMP4, and Hox genes in the development of anorectal malformations in Ethylenethiourea-exposed fetal rats. Mandhan P, etal., J Pediatr Surg. 2006 Dec;41(12):2041-5.
30. The influence of sex on the chondrogenic potential of muscle-derived stem cells: implications for cartilage regeneration and repair. Matsumoto T, etal., Arthritis Rheum. 2008 Dec;58(12):3809-19. doi: 10.1002/art.24125.
31. Cartilage repair in a rat model of osteoarthritis through intraarticular transplantation of muscle-derived stem cells expressing bone morphogenetic protein 4 and soluble Flt-1. Matsumoto T, etal., Arthritis Rheum. 2009 May;60(5):1390-405. doi: 10.1002/art.24443.
32. T allele at site 6007 of bone morphogenetic protein-4 gene increases genetic susceptibility to ossification of the posterior longitudinal ligament in male Chinese Han population. Meng XL, etal., Chin Med J (Engl). 2010 Sep;123(18):2537-42.
33. Bone morphogenetic protein 4 expressed in esophagitis induces a columnar phenotype in esophageal squamous cells. Milano F, etal., Gastroenterology. 2007 Jun;132(7):2412-21. Epub 2007 Mar 19.
34. Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia. Mu Y, etal., Genet Mol Res. 2012 Nov 28;11(4):4110-20. doi: 10.4238/2012.September.25.5.
35. Busulfan-induced central polydactyly, syndactyly and cleft hand or foot: a common mechanism of disruption leads to divergent phenotypes. Naruse T, etal., Dev Growth Differ. 2007 Aug;49(6):533-41.
36. Expression of bone morphogenic proteins and receptors at the injured growth plate cartilage in young rats. Ngo TQ, etal., J Histochem Cytochem. 2006 Aug;54(8):945-54. Epub 2006 May 1.
37. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
38. Involvement of bone morphogenetic protein 4 (BMP-4) in pituitary prolactinoma pathogenesis through a Smad/estrogen receptor crosstalk. Paez-Pereda M, etal., Proc Natl Acad Sci U S A 2003 Feb 4;100(3):1034-9.
39. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
40. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
41. Common variations in BMP4 confer genetic susceptibility to sporadic congenital heart disease in a Han Chinese population. Qian B, etal., Pediatr Cardiol. 2014 Dec;35(8):1442-7. doi: 10.1007/s00246-014-0951-1. Epub 2014 Jul 15.
42. Delayed myelination in an intrauterine growth retardation model is mediated by oxidative stress upregulating bone morphogenetic protein 4. Reid MV, etal., J Neuropathol Exp Neurol. 2012 Jul;71(7):640-53. doi: 10.1097/NEN.0b013e31825cfa81.
43. Study of the association between the BMP4 gene and congenital anomalies of the kidney and urinary tract. Reis GS, etal., J Pediatr (Rio J). 2014 Jan-Feb;90(1):58-64. doi: 10.1016/j.jped.2013.06.004. Epub 2013 Oct 13.
44. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
45. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
46. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
47. In vivo bone formation in fracture repair induced by direct retroviral-based gene therapy with bone morphogenetic protein-4. Rundle CH, etal., Bone. 2003 Jun;32(6):591-601.
48. Bone morphogenetic proteins prevent bone marrow stromal cell-mediated oligodendroglial differentiation of transplanted adult neural progenitor cells in the injured spinal cord. Sandner B, etal., Stem Cell Res. 2013 Sep;11(2):758-71. doi: 10.1016/j.scr.2013.05.003. Epub 2013 May 16.
49. Tissue remodeling in the acute otitis media mouse model. Sautter NB, etal., Int J Pediatr Otorhinolaryngol. 2011 Nov;75(11):1368-71. doi: 10.1016/j.ijporl.2011.07.026. Epub 2011 Sep 1.
50. Association of bone morphogenetic proteins with otosclerosis. Schrauwen I, etal., J Bone Miner Res. 2008 Apr;23(4):507-16.
51. Novel candidate targets of beta-catenin/T-cell factor signaling identified by gene expression profiling of ovarian endometrioid adenocarcinomas. Schwartz DR, etal., Cancer Res. 2003 Jun 1;63(11):2913-22.
52. Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. Shafritz AB, etal., N Engl J Med 1996 Aug 22;335(8):555-61.
53. BMP type I receptor ALK2 is required for angiotensin II-induced cardiac hypertrophy. Shahid M, etal., Am J Physiol Heart Circ Physiol. 2016 Apr 15;310(8):H984-94. doi: 10.1152/ajpheart.00879.2015. Epub 2016 Feb 12.
54. Structural and functional healing of critical-size segmental bone defects by transduced muscle-derived cells expressing BMP4. Shen HC, etal., J Gene Med. 2004 Sep;6(9):984-91.
55. Bone morphogenetic protein-4 contributes to the down-regulation of Kv4.3 K+ channels in pathological cardiac hypertrophy. Sun B, etal., Biochem Biophys Res Commun. 2013 Jul 12;436(4):591-4. doi: 10.1016/j.bbrc.2013.05.113. Epub 2013 Jun 6.
56. Downregulation of GATA4 and GATA6 in the heart of rats with nitrofen-induced diaphragmatic hernia. Takayasu H, etal., J Pediatr Surg. 2008 Feb;43(2):362-6. doi: 10.1016/j.jpedsurg.2007.10.047.
57. Noggin and BMP4 co-modulate adult hippocampal neurogenesis in the APP(swe)/PS1(DeltaE9) transgenic mouse model of Alzheimer's disease. Tang J, etal., Biochem Biophys Res Commun. 2009 Jul 31;385(3):341-5. doi: 10.1016/j.bbrc.2009.05.067. Epub 2009 May 20.
58. Over-expression of BMP4 inhibits experimental choroidal neovascularization by modulating VEGF and MMP-9. Xu J, etal., Angiogenesis. 2012 Jun;15(2):213-27. doi: 10.1007/s10456-012-9254-4. Epub 2012 Mar 4.
59. Transcriptional regulation of bone morphogenetic protein 4 by tumor necrosis factor and its relationship with age-related macular degeneration. Xu J, etal., FASEB J. 2011 Jul;25(7):2221-33. doi: 10.1096/fj.10-178350. Epub 2011 Mar 16.
60. Expression of bone morphogenetic proteins and rat distal-less homolog genes following rat femoral fracture. Yaoita H, etal., J Bone Miner Metab. 2000;18(2):63-70.
61. Involvement of over-expressed BMP4 in pentylenetetrazol kindling-induced cell proliferation in the dentate gyrus of adult rats. Yin J, etal., Biochem Biophys Res Commun. 2007 Mar 30;355(1):54-60. Epub 2007 Jan 29.
62. Effect of hyperbaric oxygen on neurological recovery of neonatal rats following hypoxic-ischemic brain damage and its underlying mechanism. Yin X, etal., Int J Clin Exp Pathol. 2013;6(1):66-75. Epub 2012 Nov 20.
63. Bone marrow stromal cells upregulate expression of bone morphogenetic proteins 2 and 4, gap junction protein connexin-43 and synaptophysin after stroke in rats. Zhang C, etal., Neuroscience. 2006 Aug 25;141(2):687-95. Epub 2006 May 30.
64. Down-regulation of SHH/BMP4 signalling in human anorectal malformations. Zhang J, etal., J Int Med Res. 2009 Nov-Dec;37(6):1842-50.
65. BMP4 mediates oxidative stress-induced retinal pigment epithelial cell senescence and is overexpressed in age-related macular degeneration. Zhu D, etal., J Biol Chem. 2009 Apr 3;284(14):9529-39. doi: 10.1074/jbc.M809393200. Epub 2009 Jan 21.
Additional References at PubMed
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Genomics

Comparative Map Data
BMP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381453,949,736 - 53,956,891 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1453,949,736 - 53,958,761 (-)EnsemblGRCh38hg38GRCh38
GRCh371454,416,454 - 54,423,609 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361453,486,204 - 53,493,304 (-)NCBINCBI36Build 36hg18NCBI36
Build 341453,486,206 - 53,491,020NCBI
Celera1434,466,196 - 34,473,296 (-)NCBICelera
Cytogenetic Map14q22.2NCBI
HuRef1434,579,652 - 34,586,754 (-)NCBIHuRef
CHM1_11454,355,438 - 54,362,538 (-)NCBICHM1_1
T2T-CHM13v2.01448,157,959 - 48,165,118 (-)NCBIT2T-CHM13v2.0
Bmp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391446,620,982 - 46,628,126 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1446,620,977 - 46,628,126 (-)EnsemblGRCm39 Ensembl
GRCm381446,383,525 - 46,390,669 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1446,383,520 - 46,390,669 (-)EnsemblGRCm38mm10GRCm38
MGSCv371447,003,195 - 47,010,274 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361445,305,736 - 45,309,065 (-)NCBIMGSCv36mm8
Celera1442,555,453 - 42,562,519 (-)NCBICelera
Cytogenetic Map14C1NCBI
cM Map1423.95NCBI
Bmp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81522,098,191 - 22,113,145 (-)NCBIGRCr8
mRatBN7.21519,618,538 - 19,633,494 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1519,618,542 - 19,623,306 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1522,400,667 - 22,404,237 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01523,358,675 - 23,362,245 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01521,608,597 - 21,612,175 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01520,776,060 - 20,791,013 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1520,776,054 - 20,822,740 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01524,734,987 - 24,749,935 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41522,283,171 - 22,286,757 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11522,298,892 - 22,305,718 (-)NCBI
Celera1520,029,866 - 20,033,452 (-)NCBICelera
RH 3.4 Map15185.6RGD
Cytogenetic Map15p14NCBI
Bmp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554099,432,841 - 9,440,303 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554099,432,835 - 9,439,680 (+)NCBIChiLan1.0ChiLan1.0
BMP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21555,076,681 - 55,083,868 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11454,293,198 - 54,548,492 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01434,542,132 - 34,549,286 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11452,821,872 - 52,828,781 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1452,821,872 - 52,828,752 (-)Ensemblpanpan1.1panPan2
BMP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1829,997,563 - 30,254,307 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl829,997,569 - 30,004,557 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha829,765,711 - 29,772,707 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0830,252,884 - 30,601,864 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl830,252,890 - 30,259,884 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1829,856,480 - 29,863,475 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0829,933,754 - 29,940,734 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0830,299,531 - 30,306,532 (-)NCBIUU_Cfam_GSD_1.0
Dog Cytomap8q21NCBI
Bmp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864075,280,082 - 75,287,313 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366971,056,636 - 1,061,468 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366971,054,237 - 1,061,468 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1183,416,146 - 183,422,637 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11183,415,989 - 183,422,888 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21203,773,963 - 203,780,310 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BMP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12431,097,673 - 31,104,774 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2431,097,538 - 31,101,225 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605319,326,010 - 19,333,125 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bmp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473115,263,274 - 15,269,743 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473115,262,480 - 15,269,196 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BMP4
186 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001202.6(BMP4):c.4A>T (p.Ile2Phe) single nucleotide variant Aplasia/hypoplasia involving bones of the lower limbs [RCV000856839] Chr14:53952219 [GRCh38]
Chr14:54418937 [GRCh37]
Chr14:14q22.2		 uncertain significance
NC_000014.9:g.(53815591_53825260)_(53983697_53984391)del deletion Microphthalmia with brain and digit anomalies [RCV000022454] Chr14:14q22-q23 pathogenic
NM_001202.6(BMP4):c.171dup (p.Glu58fs) duplication Microphthalmia with brain and digit anomalies [RCV000022457] Chr14:53952051..53952052 [GRCh38]
Chr14:54418769..54418770 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.226_227del (p.Ser76fs) microsatellite Microphthalmia with brain and digit anomalies [RCV000019274] Chr14:53951996..53951997 [GRCh38]
Chr14:54418714..54418715 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.197G>A (p.Gly66Glu) single nucleotide variant not provided [RCV000722884] Chr14:53952026 [GRCh38]
Chr14:54418744 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter) single nucleotide variant Inborn genetic diseases [RCV001267506]|Microphthalmia with brain and digit anomalies [RCV000022456]|Orofacial cleft 11 [RCV000022455] Chr14:53950667 [GRCh38]
Chr14:54417385 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.362A>G (p.His121Arg) single nucleotide variant BMP4-related condition [RCV003974850]|Microphthalmia with brain and digit anomalies [RCV000022458]|Microphthalmia with brain and digit anomalies [RCV000952724]|Orofacial cleft 11 [RCV001114025]|not provided [RCV003389749] Chr14:53951861 [GRCh38]
Chr14:54418579 [GRCh37]
Chr14:14q22.2		 pathogenic|likely benign|uncertain significance
NM_001202.6(BMP4):c.278A>G (p.Glu93Gly) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000019275] Chr14:53951945 [GRCh38]
Chr14:54418663 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.1037C>T (p.Ala346Val) single nucleotide variant Orofacial cleft 11 [RCV000019276] Chr14:53950222 [GRCh38]
Chr14:54416940 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001109988]|Microphthalmia with brain and digit anomalies [RCV002054447]|Orofacial cleft 11 [RCV000019277]|not provided [RCV003390692] Chr14:53951951 [GRCh38]
Chr14:54418669 [GRCh37]
Chr14:14q22.2		 pathogenic|benign|likely benign|uncertain significance
NM_001202.6(BMP4):c.860G>A (p.Arg287His) single nucleotide variant BMP4-related condition [RCV003934842]|Microphthalmia with brain and digit anomalies [RCV000644620]|Microphthalmia with brain and digit anomalies [RCV000989225]|Orofacial cleft 11 [RCV000019278] Chr14:53950399 [GRCh38]
Chr14:54417117 [GRCh37]
Chr14:14q22.2		 pathogenic|benign|likely benign
GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1 copy number loss See cases [RCV000051519] Chr14:50591011..56286919 [GRCh38]
Chr14:51057729..56753637 [GRCh37]
Chr14:50127479..55823390 [NCBI36]
Chr14:14q22.1-22.3		 pathogenic
NM_001202.3(BMP4):c.906G>A (p.Arg302=) single nucleotide variant Malignant melanoma [RCV000070557] Chr14:53950353 [GRCh38]
Chr14:54417071 [GRCh37]
Chr14:53486821 [NCBI36]
Chr14:14q22.2		 not provided
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000366338]|Microphthalmia with brain and digit anomalies [RCV000989226]|Microphthalmia with brain and digit anomalies [RCV001515452]|Orofacial cleft 11 [RCV000405370]|not provided [RCV000835434]|not specified [RCV000178157] Chr14:53950804 [GRCh38]
Chr14:54417522 [GRCh37]
Chr14:14q22.2		 benign|likely benign
NM_001202.6(BMP4):c.935C>T (p.Ser312Leu) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001302973] Chr14:53950324 [GRCh38]
Chr14:54417042 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.-7-39A>G single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001554240]|not provided [RCV001707909] Chr14:53952268 [GRCh38]
Chr14:54418986 [GRCh37]
Chr14:14q22.2		 benign
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1 copy number loss See cases [RCV000135883] Chr14:51544846..55320598 [GRCh38]
Chr14:52011564..55787316 [GRCh37]
Chr14:51081314..54857069 [NCBI36]
Chr14:14q22.1-22.3		 pathogenic
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3		 likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
NM_001202.6(BMP4):c.751C>T (p.His251Tyr) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000490360]|Microphthalmia with brain and digit anomalies [RCV001395311] Chr14:53950508 [GRCh38]
Chr14:54417226 [GRCh37]
Chr14:14q22.2		 likely benign|uncertain significance
NM_001202.6(BMP4):c.*148_*149insAT insertion BMP4-Related Syndromic Microphthalmia [RCV000299171]|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000262764]|Orofacial cleft [RCV000284761]|Syndromic Microphthalmia, Dominant [RCV000260248]|not provided [RCV001723897] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2		 benign|uncertain significance
NM_001202.6(BMP4):c.*148A>T single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000265565]|Microphthalmia with brain and digit anomalies [RCV000304196]|Orofacial cleft 11 [RCV000269148] Chr14:53949884 [GRCh38]
Chr14:54416602 [GRCh37]
Chr14:14q22.2		 benign|likely benign
NM_001202.6(BMP4):c.*148_*149insAAT insertion BMP4-Related Syndromic Microphthalmia [RCV000324834]|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000320310]|Orofacial cleft [RCV000267337]|Syndromic Microphthalmia, Dominant [RCV000377294]|not provided [RCV001538484] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2		 benign|uncertain significance
NM_001202.6(BMP4):c.*148_*149del deletion BMP4-Related Syndromic Microphthalmia [RCV000368043]|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000329666]|Orofacial cleft [RCV000276116]|Syndromic Microphthalmia, Dominant [RCV000272234]|not provided [RCV001540170] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2		 benign|uncertain significance
NM_001202.6(BMP4):c.*143A>T single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000364994]|Orofacial cleft 11 [RCV000326517]|Syndromic Microphthalmia, Dominant [RCV000272736] Chr14:53949889 [GRCh38]
Chr14:54416607 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.-342G>A single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000367518]|Orofacial cleft 11 [RCV000312897]|Syndromic Microphthalmia, Dominant [RCV000272960] Chr14:53956759 [GRCh38]
Chr14:54423477 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.-146T>C single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000276539]|Microphthalmia with brain and digit anomalies [RCV000297665]|Orofacial cleft 11 [RCV000371089] Chr14:53956563 [GRCh38]
Chr14:54423281 [GRCh37]
Chr14:14q22.2		 benign|likely benign
NM_001202.6(BMP4):c.370+12C>T single nucleotide variant Orofacial cleft 11 [RCV000331749]|Orofacial cleft [RCV000369966]|Syndromic Microphthalmia, Dominant [RCV000277850] Chr14:53951841 [GRCh38]
Chr14:54418559 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*272A>G single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000392095]|Orofacial cleft 11 [RCV000278710]|Syndromic Microphthalmia, Dominant [RCV000336144] Chr14:53949760 [GRCh38]
Chr14:54416478 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*150del deletion BMP4-Related Syndromic Microphthalmia [RCV000319852]|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000279585]|Orofacial cleft [RCV000307921]|Syndromic Microphthalmia, Dominant [RCV000333475] Chr14:53949882 [GRCh38]
Chr14:54416600 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*88C>T single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000336899]|Microphthalmia with brain and digit anomalies [RCV000398557]|Orofacial cleft 11 [RCV000283482]|not provided [RCV001618549] Chr14:53949944 [GRCh38]
Chr14:54416662 [GRCh37]
Chr14:14q22.2		 benign|likely benign
NM_001202.6(BMP4):c.288A>G (p.Glu96=) single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000377211]|Orofacial cleft 11 [RCV000320231]|Syndromic Microphthalmia, Dominant [RCV000373611] Chr14:53951935 [GRCh38]
Chr14:54418653 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*251C>T single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000304420]|Orofacial cleft 11 [RCV000281922]|Orofacial cleft [RCV000392088] Chr14:53949781 [GRCh38]
Chr14:54416499 [GRCh37]
Chr14:14q22.2		 benign|likely benign|uncertain significance
NM_001202.6(BMP4):c.224A>G (p.Lys75Arg) single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000344659]|Microphthalmia with brain and digit anomalies [RCV002480133]|Orofacial cleft 11 [RCV000289710]|Syndromic Microphthalmia, Dominant [RCV000400269]|not provided [RCV000438985] Chr14:53951999 [GRCh38]
Chr14:54418717 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*145_*149del deletion BMP4-Related Syndromic Microphthalmia [RCV000391556]|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000345407]|Orofacial cleft [RCV000310719]|Syndromic Microphthalmia, Dominant [RCV000288055] Chr14:53949883..53949887 [GRCh38]
Chr14:54416601..54416605 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*148_*149insAG insertion BMP4-Related Syndromic Microphthalmia [RCV000289496]|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000384935]|Orofacial cleft [RCV000346822]|Syndromic Microphthalmia, Dominant [RCV000381643] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.304A>G (p.Thr102Ala) single nucleotide variant not provided [RCV000290196] Chr14:53951919 [GRCh38]
Chr14:54418637 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*146_*148dup duplication BMP4-Related Syndromic Microphthalmia [RCV000315014]|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000292892]|Orofacial cleft [RCV000350277]|Syndromic Microphthalmia, Dominant [RCV000408416]|not provided [RCV001642974] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2		 benign|uncertain significance
NM_001202.6(BMP4):c.*131A>T single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000294998]|Orofacial cleft 11 [RCV000333573]|Syndromic Microphthalmia, Dominant [RCV000371833] Chr14:53949901 [GRCh38]
Chr14:54416619 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*149G>A single nucleotide variant Orofacial cleft 11 [RCV000408409]|Orofacial cleft [RCV000334903]|Syndromic Microphthalmia, Dominant [RCV000299933]|not provided [RCV003389792] Chr14:53949883 [GRCh38]
Chr14:54416601 [GRCh37]
Chr14:14q22.2		 benign|uncertain significance
NM_001202.6(BMP4):c.215A>G (p.Gln72Arg) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000393894]|Orofacial cleft 11 [RCV000341050]|Orofacial cleft [RCV000301329]|not provided [RCV000439978] Chr14:53952008 [GRCh38]
Chr14:54418726 [GRCh37]
Chr14:14q22.2		 likely benign|uncertain significance
NM_001202.6(BMP4):c.*35C>G single nucleotide variant Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000340809]|Orofacial cleft 11 [RCV000391417]|Syndromic Microphthalmia, Dominant [RCV000305941] Chr14:53949997 [GRCh38]
Chr14:54416715 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*148_*149insT insertion BMP4-Related Syndromic Microphthalmia [RCV000391547]|Cleft Lip +/- Cleft Palate, Autosomal Dominant [RCV000349187]|Orofacial cleft [RCV000314154]|Syndromic Microphthalmia, Dominant [RCV000371315]|not provided [RCV001683260] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2		 benign|uncertain significance
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001202.6(BMP4):c.898C>T (p.Arg300Trp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001865369]|not provided [RCV000431465] Chr14:53950361 [GRCh38]
Chr14:54417079 [GRCh37]
Chr14:14q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001202.6(BMP4):c.58G>A (p.Gly20Ser) single nucleotide variant Tooth agenesis [RCV001784307] Chr14:53952165 [GRCh38]
Chr14:54418883 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.614T>C (p.Val205Ala) single nucleotide variant Tooth agenesis [RCV000681619] Chr14:53950645 [GRCh38]
Chr14:54417363 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.370+28G>A single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001515453]|not provided [RCV000514808]|not specified [RCV000727687] Chr14:53951825 [GRCh38]
Chr14:54418543 [GRCh37]
Chr14:14q22.2		 benign|likely benign
NM_001202.6(BMP4):c.512G>A (p.Trp171Ter) single nucleotide variant not provided [RCV000485349] Chr14:53950747 [GRCh38]
Chr14:54417465 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.380_392del (p.Glu127fs) deletion not provided [RCV000481644] Chr14:53950867..53950879 [GRCh38]
Chr14:54417585..54417597 [GRCh37]
Chr14:14q22.2		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q22.1-22.2(chr14:53820659-55003253)x1 copy number loss See cases [RCV000511921] Chr14:53820659..55003253 [GRCh37]
Chr14:14q22.1-22.2		 pathogenic
NM_001202.6(BMP4):c.361C>T (p.His121Tyr) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000644619] Chr14:53951862 [GRCh38]
Chr14:54418580 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.76T>C (p.Leu26=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000541449]|Microphthalmia with brain and digit anomalies [RCV001110775]|Orofacial cleft 11 [RCV001110774]|not provided [RCV001529820]|not specified [RCV001701039] Chr14:53952147 [GRCh38]
Chr14:54418865 [GRCh37]
Chr14:14q22.2		 benign|likely benign|uncertain significance
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp) single nucleotide variant BMP4-related condition [RCV003420028]|Microphthalmia with brain and digit anomalies [RCV001112673]|Microphthalmia with brain and digit anomalies [RCV001854009]|Orofacial cleft 11 [RCV001112672]|not provided [RCV000594335] Chr14:53950583 [GRCh38]
Chr14:54417301 [GRCh37]
Chr14:14q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 14q22.2(chr14:54250363-55362006)x1 copy number loss not provided [RCV000683619] Chr14:54250363..55362006 [GRCh37]
Chr14:14q22.2		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NC_000014.8:g.54195768_54215968del20201 deletion Primary amenorrhea [RCV000754460] Chr14:53729050..53749250 [GRCh38]
Chr14:54195768..54215968 [GRCh37]
Chr14:14q22.2		 uncertain significance
GRCh37/hg19 14q22.2(chr14:54417117-54424669)x1 copy number loss not provided [RCV000751016] Chr14:54417117..54424669 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.184C>G (p.Leu62Val) single nucleotide variant Orofacial cleft 11 [RCV001706899] Chr14:53952039 [GRCh38]
Chr14:54418757 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*148del deletion not provided [RCV001549565] Chr14:53949884 [GRCh38]
Chr14:54416602 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.624T>C (p.Asn208=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002547293] Chr14:53950635 [GRCh38]
Chr14:54417353 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.51G>C (p.Leu17=) single nucleotide variant not provided [RCV000982999] Chr14:53952172 [GRCh38]
Chr14:54418890 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.502G>C (p.Gly168Arg) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000900086]|not specified [RCV001818742] Chr14:53950757 [GRCh38]
Chr14:54417475 [GRCh37]
Chr14:14q22.2		 likely benign|uncertain significance
NM_001202.6(BMP4):c.228T>A (p.Ser76Arg) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000878648]|Microphthalmia with brain and digit anomalies [RCV001109989] Chr14:53951995 [GRCh38]
Chr14:54418713 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.1088C>T (p.Ser363Phe) single nucleotide variant Inborn genetic diseases [RCV003246437] Chr14:53950171 [GRCh38]
Chr14:54416889 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.806G>A (p.Arg269Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002068648] Chr14:53950453 [GRCh38]
Chr14:54417171 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.108C>T (p.Ala36=) single nucleotide variant not provided [RCV000905552] Chr14:53952115 [GRCh38]
Chr14:54418833 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.345C>T (p.Asn115=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000946030]|Microphthalmia with brain and digit anomalies [RCV001114027]|Orofacial cleft 11 [RCV001114026]|not provided [RCV001578226]|not specified [RCV001700514] Chr14:53951878 [GRCh38]
Chr14:54418596 [GRCh37]
Chr14:14q22.2		 benign|likely benign|uncertain significance
NM_001202.6(BMP4):c.315G>A (p.Glu105=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000925392] Chr14:53951908 [GRCh38]
Chr14:54418626 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.93G>C (p.Gly31=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000894772] Chr14:53952130 [GRCh38]
Chr14:54418848 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.839G>C (p.Arg280Pro) single nucleotide variant BMP4-Related Syndromic Microphthalmia [RCV000790928] Chr14:53950420 [GRCh38]
Chr14:54417138 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.582C>T (p.His194=) single nucleotide variant not provided [RCV000898103] Chr14:53950677 [GRCh38]
Chr14:54417395 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.673A>G (p.Thr225Ala) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001112674]|Microphthalmia with brain and digit anomalies [RCV001856491]|not provided [RCV003883555] Chr14:53950586 [GRCh38]
Chr14:54417304 [GRCh37]
Chr14:14q22.2		 benign|likely benign|uncertain significance
NM_001202.6(BMP4):c.865_879delinsGT (p.Arg289fs) indel Microphthalmia with brain and digit anomalies [RCV001240340] Chr14:53950380..53950394 [GRCh38]
Chr14:54417098..54417112 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.426T>A (p.Phe142Leu) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001247811] Chr14:53950833 [GRCh38]
Chr14:54417551 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*254A>T single nucleotide variant Orofacial cleft 11 [RCV001113926] Chr14:53949778 [GRCh38]
Chr14:54416496 [GRCh37]
Chr14:14q22.2		 uncertain significance
NC_000014.8:g.(?_53513486)_(54418940_?)dup duplication Hereditary spastic paraplegia 28 [RCV003105587] Chr14:53513486..54418940 [GRCh37]
Chr14:14q22.1-22.2		 uncertain significance
NM_001202.6(BMP4):c.-7-133G>C single nucleotide variant not provided [RCV001713481] Chr14:53952362 [GRCh38]
Chr14:54419080 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.348C>T (p.Thr116=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002073285]|not provided [RCV001727947]|not specified [RCV001700537] Chr14:53951875 [GRCh38]
Chr14:54418593 [GRCh37]
Chr14:14q22.2		 benign|likely benign
NC_000014.9:g.53949729del deletion not provided [RCV001673293] Chr14:53949720 [GRCh38]
Chr14:54416438 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.450C>T (p.Asn150=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002548303] Chr14:53950809 [GRCh38]
Chr14:54417527 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.394A>G (p.Thr132Ala) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV000902001] Chr14:53950865 [GRCh38]
Chr14:54417583 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.305C>T (p.Thr102Ile) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001114029]|Microphthalmia with brain and digit anomalies [RCV002556227]|Orofacial cleft 11 [RCV001114028] Chr14:53951918 [GRCh38]
Chr14:54418636 [GRCh37]
Chr14:14q22.2		 likely benign|uncertain significance
NM_001202.6(BMP4):c.-155G>A single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001112767]|Orofacial cleft 11 [RCV001110776] Chr14:53956572 [GRCh38]
Chr14:54423290 [GRCh37]
Chr14:14q22.2		 benign|likely benign
NM_001202.6(BMP4):c.371-24C>T single nucleotide variant not provided [RCV001572196] Chr14:53950912 [GRCh38]
Chr14:54417630 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.677G>A (p.Arg226Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002569000]|not provided [RCV001557970] Chr14:53950582 [GRCh38]
Chr14:54417300 [GRCh37]
Chr14:14q22.2		 likely benign|uncertain significance
NM_001202.6(BMP4):c.863G>A (p.Arg288Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002488636]|not provided [RCV002256947] Chr14:53950396 [GRCh38]
Chr14:54417114 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.635G>A (p.Trp212Ter) single nucleotide variant not provided [RCV000995176] Chr14:53950624 [GRCh38]
Chr14:54417342 [GRCh37]
Chr14:14q22.2		 likely pathogenic
NM_001202.6(BMP4):c.169T>C (p.Phe57Leu) single nucleotide variant Orofacial cleft 11 [RCV002471882] Chr14:53952054 [GRCh38]
Chr14:54418772 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.753T>C (p.His251=) single nucleotide variant BMP4-related condition [RCV003906210]|Microphthalmia with brain and digit anomalies [RCV001856490]|Orofacial cleft 11 [RCV001112671] Chr14:53950506 [GRCh38]
Chr14:54417224 [GRCh37]
Chr14:14q22.2		 likely benign|uncertain significance
NM_001202.6(BMP4):c.*31T>A single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001110692]|Orofacial cleft 11 [RCV001110691] Chr14:53950001 [GRCh38]
Chr14:54416719 [GRCh37]
Chr14:14q22.2		 likely benign|uncertain significance
NM_001202.6(BMP4):c.*28A>T single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001110694]|Orofacial cleft 11 [RCV001110693] Chr14:53950004 [GRCh38]
Chr14:54416722 [GRCh37]
Chr14:14q22.2		 benign|likely benign
NM_001202.6(BMP4):c.124G>C (p.Ala42Pro) single nucleotide variant Inborn genetic diseases [RCV002558108]|Microphthalmia with brain and digit anomalies [RCV001110773]|Microphthalmia with brain and digit anomalies [RCV001856475]|Orofacial cleft 11 [RCV001110772]|not provided [RCV003238838] Chr14:53952099 [GRCh38]
Chr14:54418817 [GRCh37]
Chr14:14q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001202.6(BMP4):c.-251C>G single nucleotide variant Orofacial cleft 11 [RCV001112768] Chr14:53956668 [GRCh38]
Chr14:54423386 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.-329T>C single nucleotide variant Orofacial cleft 11 [RCV001112769] Chr14:53956746 [GRCh38]
Chr14:54423464 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.291G>A (p.Glu97=) single nucleotide variant Orofacial cleft 11 [RCV001114030] Chr14:53951932 [GRCh38]
Chr14:54418650 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.-8+29C>T single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001554241] Chr14:53953247 [GRCh38]
Chr14:54419965 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.666del (p.Arg223fs) deletion See cases [RCV001420254] Chr14:53950593 [GRCh38]
Chr14:54417311 [GRCh37]
Chr14:14q22.2		 likely pathogenic
NM_001202.6(BMP4):c.857G>A (p.Arg286Gln) single nucleotide variant Inborn genetic diseases [RCV002545112]|Microphthalmia with brain and digit anomalies [RCV001322566] Chr14:53950402 [GRCh38]
Chr14:54417120 [GRCh37]
Chr14:14q22.2		 uncertain significance
NC_000014.8:g.(?_54416336)_54418690del deletion Microphthalmia with brain and digit anomalies [RCV001383549]   pathogenic
NM_001202.6(BMP4):c.370+160C>T single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001517842]|not provided [RCV001638112] Chr14:53951693 [GRCh38]
Chr14:54418411 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.-132-117A>G single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001554242] Chr14:53953517 [GRCh38]
Chr14:54420235 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.-7-159T>G single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001517843]|not provided [RCV001676010] Chr14:53952388 [GRCh38]
Chr14:54419106 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.-7-163C>G single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001517844]|not provided [RCV001597285] Chr14:53952392 [GRCh38]
Chr14:54419110 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.351G>A (p.Val117=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002540412]|not provided [RCV001758609] Chr14:53951872 [GRCh38]
Chr14:54418590 [GRCh37]
Chr14:14q22.2		 likely benign|uncertain significance
NM_001202.6(BMP4):c.818T>C (p.Val273Ala) single nucleotide variant not provided [RCV001763443] Chr14:53950441 [GRCh38]
Chr14:54417159 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys) single nucleotide variant BMP4-related condition [RCV003407792]|Microphthalmia with brain and digit anomalies [RCV003771968]|not provided [RCV001772568] Chr14:53950331 [GRCh38]
Chr14:54417049 [GRCh37]
Chr14:14q22.2		 likely pathogenic|uncertain significance
NM_001202.6(BMP4):c.398G>A (p.Ser133Asn) single nucleotide variant not provided [RCV001794624] Chr14:53950861 [GRCh38]
Chr14:54417579 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1001C>A (p.Ala334Asp) single nucleotide variant not provided [RCV001795626] Chr14:53950258 [GRCh38]
Chr14:54416976 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.766C>T (p.Arg256Ter) single nucleotide variant not provided [RCV001806650] Chr14:53950493 [GRCh38]
Chr14:54417211 [GRCh37]
Chr14:14q22.2		 likely pathogenic
NM_001202.6(BMP4):c.436A>G (p.Ser146Gly) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001971244] Chr14:53950823 [GRCh38]
Chr14:54417541 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1223G>A (p.Arg408His) single nucleotide variant Inborn genetic diseases [RCV002573381]|Microphthalmia with brain and digit anomalies [RCV001969571] Chr14:53950036 [GRCh38]
Chr14:54416754 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.979G>A (p.Val327Met) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002039322] Chr14:53950280 [GRCh38]
Chr14:54416998 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.153T>G (p.His51Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001967361] Chr14:53952070 [GRCh38]
Chr14:54418788 [GRCh37]
Chr14:14q22.2		 uncertain significance
GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026) copy number loss not specified [RCV002053104] Chr14:53241194..55803026 [GRCh37]
Chr14:14q22.1-22.3		 pathogenic
NC_000014.8:g.(?_54416750)_(55369403_?)del deletion Microphthalmia with brain and digit anomalies [RCV001946570] Chr14:54416750..55369403 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.475C>T (p.Arg159Trp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001894570] Chr14:53950784 [GRCh38]
Chr14:54417502 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.200T>A (p.Leu67Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002039819] Chr14:53952023 [GRCh38]
Chr14:54418741 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.568G>A (p.Val190Met) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001954969] Chr14:53950691 [GRCh38]
Chr14:54417409 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.220A>G (p.Ser74Gly) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001962357] Chr14:53952003 [GRCh38]
Chr14:54418721 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.205_214del (p.Arg69fs) deletion Microphthalmia with brain and digit anomalies [RCV001956323] Chr14:53952009..53952018 [GRCh38]
Chr14:54418727..54418736 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.17G>A (p.Arg6Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002029825] Chr14:53952206 [GRCh38]
Chr14:54418924 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.118G>A (p.Gly40Ser) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001897316] Chr14:53952105 [GRCh38]
Chr14:54418823 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1085A>G (p.Asn362Ser) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001977257] Chr14:53950174 [GRCh38]
Chr14:54416892 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.481T>C (p.Phe161Leu) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002048071] Chr14:53950778 [GRCh38]
Chr14:54417496 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.295A>G (p.Ile99Val) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002030288] Chr14:53951928 [GRCh38]
Chr14:54418646 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.668G>A (p.Arg223His) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV001878816] Chr14:53950591 [GRCh38]
Chr14:54417309 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.-8_-8+40del deletion not provided [RCV002223618] Chr14:53953236..53953276 [GRCh38]
Chr14:54419954..54419994 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1179A>G (p.Val393=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002210762] Chr14:53950080 [GRCh38]
Chr14:54416798 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.357C>T (p.Ser119=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002189605] Chr14:53951866 [GRCh38]
Chr14:54418584 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.485G>A (p.Arg162Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002126716]|not specified [RCV002246674] Chr14:53950774 [GRCh38]
Chr14:54417492 [GRCh37]
Chr14:14q22.2		 likely benign|uncertain significance
NM_001202.6(BMP4):c.1032A>G (p.Pro344=) single nucleotide variant BMP4-related condition [RCV003958578]|Microphthalmia with brain and digit anomalies [RCV002214572] Chr14:53950227 [GRCh38]
Chr14:54416945 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.159C>T (p.Leu53=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002078121] Chr14:53952064 [GRCh38]
Chr14:54418782 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.240G>T (p.Pro80=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002138589] Chr14:53951983 [GRCh38]
Chr14:54418701 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.510T>C (p.Asp170=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002202528] Chr14:53950749 [GRCh38]
Chr14:54417467 [GRCh37]
Chr14:14q22.2		 likely benign
NC_000014.8:g.(?_54410919)_(55369403_?)del deletion Dystonia 5 [RCV003122095] Chr14:54410919..55369403 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.683A>G (p.Lys228Arg) single nucleotide variant not provided [RCV002291455] Chr14:53950576 [GRCh38]
Chr14:54417294 [GRCh37]
Chr14:14q22.2		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr) single nucleotide variant Irido-corneo-trabecular dysgenesis [RCV002291345] Chr14:53950141 [GRCh38]
Chr14:54416859 [GRCh37]
Chr14:14q22.2		 likely pathogenic
NM_001202.6(BMP4):c.733C>T (p.Arg245Trp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003774932]|not provided [RCV003146533]|not specified [RCV002283384] Chr14:53950526 [GRCh38]
Chr14:54417244 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.810C>A (p.Pro270=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003011849] Chr14:53950449 [GRCh38]
Chr14:54417167 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.476G>A (p.Arg159Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002974930] Chr14:53950783 [GRCh38]
Chr14:54417501 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.838C>T (p.Arg280Trp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002948290] Chr14:53950421 [GRCh38]
Chr14:54417139 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.63G>C (p.Ala21=) single nucleotide variant BMP4-related condition [RCV003953821]|Microphthalmia with brain and digit anomalies [RCV003034099] Chr14:53952160 [GRCh38]
Chr14:54418878 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.859C>T (p.Arg287Cys) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003039005] Chr14:53950400 [GRCh38]
Chr14:54417118 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.383A>G (p.Asn128Ser) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002740236] Chr14:53950876 [GRCh38]
Chr14:54417594 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.979G>T (p.Val327Leu) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002796014] Chr14:53950280 [GRCh38]
Chr14:54416998 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.671G>A (p.Trp224Ter) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002867619] Chr14:53950588 [GRCh38]
Chr14:54417306 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.348C>G (p.Thr116=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002795477] Chr14:53951875 [GRCh38]
Chr14:54418593 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1042C>T (p.His348Tyr) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003080443] Chr14:53950217 [GRCh38]
Chr14:54416935 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.862C>T (p.Arg288Trp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003053194] Chr14:53950397 [GRCh38]
Chr14:54417115 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.430C>G (p.Leu144Val) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003054610] Chr14:53950829 [GRCh38]
Chr14:54417547 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.839G>A (p.Arg280Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003077955] Chr14:53950420 [GRCh38]
Chr14:54417138 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.168C>A (p.Asp56Glu) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003085943] Chr14:53952055 [GRCh38]
Chr14:54418773 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1076C>T (p.Thr359Ile) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003058964] Chr14:53950183 [GRCh38]
Chr14:54416901 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.123C>T (p.His41=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002765510] Chr14:53952100 [GRCh38]
Chr14:54418818 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.442C>T (p.Pro148Ser) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002790794] Chr14:53950817 [GRCh38]
Chr14:54417535 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.416G>A (p.Arg139His) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002982819] Chr14:53950843 [GRCh38]
Chr14:54417561 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.280G>A (p.Glu94Lys) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002765691] Chr14:53951943 [GRCh38]
Chr14:54418661 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1171A>G (p.Lys391Glu) single nucleotide variant Inborn genetic diseases [RCV002874214] Chr14:53950088 [GRCh38]
Chr14:54416806 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.251G>A (p.Arg84Gln) single nucleotide variant Inborn genetic diseases [RCV002826310]|Microphthalmia with brain and digit anomalies [RCV003777797] Chr14:53951972 [GRCh38]
Chr14:54418690 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.484C>T (p.Arg162Trp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002711477] Chr14:53950775 [GRCh38]
Chr14:54417493 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.373C>T (p.His125Tyr) single nucleotide variant Inborn genetic diseases [RCV002853944] Chr14:53950886 [GRCh38]
Chr14:54417604 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.813C>T (p.Leu271=) single nucleotide variant BMP4-related condition [RCV003946335]|Microphthalmia with brain and digit anomalies [RCV002625324] Chr14:53950446 [GRCh38]
Chr14:54417164 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.416G>T (p.Arg139Leu) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003009177] Chr14:53950843 [GRCh38]
Chr14:54417561 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1099A>C (p.Ser367Arg) single nucleotide variant BMP4-related condition [RCV003918945]|Inborn genetic diseases [RCV002668413] Chr14:53950160 [GRCh38]
Chr14:54416878 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.250C>T (p.Arg84Trp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003062632] Chr14:53951973 [GRCh38]
Chr14:54418691 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.593G>A (p.Arg198Gln) single nucleotide variant Inborn genetic diseases [RCV002669486] Chr14:53950666 [GRCh38]
Chr14:54417384 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.496G>A (p.Asp166Asn) single nucleotide variant Inborn genetic diseases [RCV002669084] Chr14:53950763 [GRCh38]
Chr14:54417481 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.632G>A (p.Arg211Gln) single nucleotide variant Inborn genetic diseases [RCV003269448]|Microphthalmia with brain and digit anomalies [RCV003086389] Chr14:53950627 [GRCh38]
Chr14:54417345 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.451G>A (p.Glu151Lys) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002810436] Chr14:53950808 [GRCh38]
Chr14:54417526 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.370+19T>C single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002746597] Chr14:53951834 [GRCh38]
Chr14:54418552 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.88A>G (p.Thr30Ala) single nucleotide variant Inborn genetic diseases [RCV002674694] Chr14:53952135 [GRCh38]
Chr14:54418853 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1209G>A (p.Glu403=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003093117] Chr14:53950050 [GRCh38]
Chr14:54416768 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.89C>T (p.Thr30Met) single nucleotide variant BMP4-related condition [RCV003404067]|Microphthalmia with brain and digit anomalies [RCV003069750] Chr14:53952134 [GRCh38]
Chr14:54418852 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.605C>T (p.Thr202Met) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002606242] Chr14:53950654 [GRCh38]
Chr14:54417372 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.731C>T (p.Thr244Ile) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003073110] Chr14:53950528 [GRCh38]
Chr14:54417246 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.213G>T (p.Pro71=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003073111] Chr14:53952010 [GRCh38]
Chr14:54418728 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.101A>G (p.Lys34Arg) single nucleotide variant not provided [RCV003143802] Chr14:53952122 [GRCh38]
Chr14:54418840 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.43C>G (p.Gln15Glu) single nucleotide variant not provided [RCV003143803] Chr14:53952180 [GRCh38]
Chr14:54418898 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.734G>A (p.Arg245Gln) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003225780] Chr14:53950525 [GRCh38]
Chr14:54417243 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.370+441G>A single nucleotide variant Kapur-Toriello syndrome [RCV003326066] Chr14:53951412 [GRCh38]
Chr14:54418130 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.769T>C (p.Ser257Pro) single nucleotide variant Inborn genetic diseases [RCV003373453] Chr14:53950490 [GRCh38]
Chr14:54417208 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.*147_*148dup duplication not provided [RCV003393435] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.119G>A (p.Gly40Asp) single nucleotide variant Inborn genetic diseases [RCV003352643] Chr14:53952104 [GRCh38]
Chr14:54418822 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.703G>C (p.Ala235Pro) single nucleotide variant Inborn genetic diseases [RCV003371148] Chr14:53950556 [GRCh38]
Chr14:54417274 [GRCh37]
Chr14:14q22.2		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
NM_001202.6(BMP4):c.277G>T (p.Glu93Ter) single nucleotide variant not provided [RCV003441303] Chr14:53951946 [GRCh38]
Chr14:54418664 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.-97G>T single nucleotide variant BMP4-related condition [RCV003400191] Chr14:53953365 [GRCh38]
Chr14:54420083 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.326G>A (p.Arg109His) single nucleotide variant BMP4-related condition [RCV003414500] Chr14:53951897 [GRCh38]
Chr14:54418615 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.231C>T (p.Ala77=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003793995] Chr14:53951992 [GRCh38]
Chr14:54418710 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.764G>A (p.Ser255Asn) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003785198] Chr14:53950495 [GRCh38]
Chr14:54417213 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.461C>T (p.Ser154Phe) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003781325] Chr14:53950798 [GRCh38]
Chr14:54417516 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.171C>G (p.Phe57Leu) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003796268] Chr14:53952052 [GRCh38]
Chr14:54418770 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.180A>G (p.Thr60=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003793641] Chr14:53952043 [GRCh38]
Chr14:54418761 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.394A>T (p.Thr132Ser) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003790655] Chr14:53950865 [GRCh38]
Chr14:54417583 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.954C>T (p.Ser318=) single nucleotide variant BMP4-related condition [RCV003893391]|Microphthalmia with brain and digit anomalies [RCV003786441] Chr14:53950305 [GRCh38]
Chr14:54417023 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.817G>C (p.Val273Leu) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003787021] Chr14:53950442 [GRCh38]
Chr14:54417160 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.615C>A (p.Val205=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003785605] Chr14:53950644 [GRCh38]
Chr14:54417362 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.762T>C (p.Ile254=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003789264] Chr14:53950497 [GRCh38]
Chr14:54417215 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.530G>A (p.Arg177His) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003783536] Chr14:53950729 [GRCh38]
Chr14:54417447 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.521G>A (p.Gly174Asp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003791817] Chr14:53950738 [GRCh38]
Chr14:54417456 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.560C>T (p.Pro187Leu) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003810147] Chr14:53950699 [GRCh38]
Chr14:54417417 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.163C>T (p.Arg55Trp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003798222] Chr14:53952060 [GRCh38]
Chr14:54418778 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.262C>T (p.Arg88Trp) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003801111] Chr14:53951961 [GRCh38]
Chr14:54418679 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.293A>G (p.Gln98Arg) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003808718] Chr14:53951930 [GRCh38]
Chr14:54418648 [GRCh37]
Chr14:14q22.2		 uncertain significance
GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1 copy number loss Dystonia 5 [RCV003984308] Chr14:53949639..56297420 [GRCh38]
Chr14:14q22.2-22.3		 pathogenic
NM_001202.6(BMP4):c.519G>A (p.Arg173=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003803084] Chr14:53950740 [GRCh38]
Chr14:54417458 [GRCh37]
Chr14:14q22.2		 likely benign
GRCh37/hg19 14q22.2(chr14:54361222-54823763)x1 copy number loss not specified [RCV003987051] Chr14:54361222..54823763 [GRCh37]
Chr14:14q22.2		 pathogenic
NM_001202.6(BMP4):c.-365C>G single nucleotide variant BMP4-related condition [RCV003924779] Chr14:53956782 [GRCh38]
Chr14:54423500 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.1176G>A (p.Val392=) single nucleotide variant BMP4-related condition [RCV003902311] Chr14:53950083 [GRCh38]
Chr14:54416801 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.1026C>G (p.Pro342=) single nucleotide variant BMP4-related condition [RCV003959299] Chr14:53950233 [GRCh38]
Chr14:54416951 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.-335G>C single nucleotide variant BMP4-related condition [RCV003954730] Chr14:53956752 [GRCh38]
Chr14:54423470 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.729G>C (p.Gln243His) single nucleotide variant BMP4-related condition [RCV003983449] Chr14:53950530 [GRCh38]
Chr14:54417248 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.942T>C (p.Tyr314=) single nucleotide variant BMP4-related condition [RCV003951369] Chr14:53950317 [GRCh38]
Chr14:54417035 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.-87C>T single nucleotide variant BMP4-related condition [RCV003906984] Chr14:53953355 [GRCh38]
Chr14:54420073 [GRCh37]
Chr14:14q22.2		 benign
NM_001202.6(BMP4):c.856C>T (p.Arg286Ter) single nucleotide variant not provided [RCV003886908] Chr14:53950403 [GRCh38]
Chr14:54417121 [GRCh37]
Chr14:14q22.2		 likely pathogenic
NM_001202.6(BMP4):c.667C>T (p.Arg223Cys) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002594282] Chr14:53950592 [GRCh38]
Chr14:54417310 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.252G>A (p.Arg84=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV002060105]|not specified [RCV000501077] Chr14:53951971 [GRCh38]
Chr14:54418689 [GRCh37]
Chr14:14q22.2		 likely benign
NM_001202.6(BMP4):c.450C>G (p.Asn150Lys) single nucleotide variant not provided [RCV000782227] Chr14:53950809 [GRCh38]
Chr14:54417527 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.370+1G>T single nucleotide variant not provided [RCV001758684] Chr14:53951852 [GRCh38]
Chr14:54418570 [GRCh37]
Chr14:14q22.2		 uncertain significance
NM_001202.6(BMP4):c.63G>A (p.Ala21=) single nucleotide variant Microphthalmia with brain and digit anomalies [RCV003043438] Chr14:53952160 [GRCh38]
Chr14:54418878 [GRCh37]
Chr14:14q22.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1560
Count of miRNA genes:717
Interacting mature miRNAs:840
Transcripts:ENST00000245451, ENST00000417573, ENST00000558489, ENST00000558961, ENST00000558984, ENST00000559087, ENST00000559501, ENST00000559642, ENST00000609748
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-57004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,418,282 - 54,418,509UniSTSGRCh37
Build 361453,488,032 - 53,488,259RGDNCBI36
Celera1434,468,024 - 34,468,251RGD
Cytogenetic Map14q22-q23UniSTS
HuRef1434,581,482 - 34,581,709UniSTS
TNG Radiation Hybrid Map1415631.0UniSTS
RH47295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,416,639 - 54,416,780UniSTSGRCh37
Build 361453,486,389 - 53,486,530RGDNCBI36
Celera1434,466,381 - 34,466,522RGD
Cytogenetic Map14q22-q23UniSTS
HuRef1434,579,839 - 34,579,980UniSTS
GeneMap99-GB4 RH Map14124.97UniSTS
BMP4_296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,416,559 - 54,417,439UniSTSGRCh37
Build 361453,486,309 - 53,487,189RGDNCBI36
Celera1434,466,301 - 34,467,181RGD
HuRef1434,579,757 - 34,580,639UniSTS
G15892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,416,642 - 54,416,747UniSTSGRCh37
Build 361453,486,392 - 53,486,497RGDNCBI36
Celera1434,466,384 - 34,466,489RGD
Cytogenetic Map14q22-q23UniSTS
HuRef1434,579,842 - 34,579,947UniSTS
RH66828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,416,665 - 54,416,833UniSTSGRCh37
Build 361453,486,415 - 53,486,583RGDNCBI36
Celera1434,466,407 - 34,466,575RGD
Cytogenetic Map14q22-q23UniSTS
HuRef1434,579,865 - 34,580,033UniSTS
GeneMap99-GB4 RH Map14125.07UniSTS
MARC_5761-5762:996690803:2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,418,915 - 54,420,070UniSTSGRCh37
Build 361453,488,665 - 53,489,820RGDNCBI36
Celera1434,468,657 - 34,469,812RGD
HuRef1434,582,115 - 34,583,270UniSTS
Bmp4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371454,417,416 - 54,418,770UniSTSGRCh37
Celera1434,467,158 - 34,468,512UniSTS
HuRef1434,580,616 - 34,581,970UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4
Medium 1673 1142 478 100 198 50 2211 647 416 140 712 668 55 694 1300 3
Low 751 1127 1213 505 633 397 2119 1522 2458 255 716 888 117 1 510 1488 2 1
Below cutoff 7 570 33 18 755 18 17 8 838 18 24 45 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH007194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX552085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE877424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ083000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU683974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX161385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX161438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D30751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU518936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB975907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF250427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM207213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM207214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM207215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM207216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM220602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU342017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX184797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX184798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX184799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000245451   ⟹   ENSP00000245451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1453,949,736 - 53,956,825 (-)Ensembl
RefSeq Acc Id: ENST00000417573   ⟹   ENSP00000394165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1453,949,739 - 53,954,552 (-)Ensembl
RefSeq Acc Id: ENST00000558489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1453,955,466 - 53,956,648 (-)Ensembl
RefSeq Acc Id: ENST00000558961   ⟹   ENSP00000453691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1453,950,622 - 53,952,147 (-)Ensembl
RefSeq Acc Id: ENST00000558984   ⟹   ENSP00000454134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1453,949,741 - 53,953,455 (-)Ensembl
RefSeq Acc Id: ENST00000559087   ⟹   ENSP00000453485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1453,949,736 - 53,956,811 (-)Ensembl
RefSeq Acc Id: ENST00000559501   ⟹   ENSP00000453365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1453,950,255 - 53,953,429 (-)Ensembl
RefSeq Acc Id: ENST00000559642   ⟹   ENSP00000453467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1453,951,892 - 53,958,761 (-)Ensembl
RefSeq Acc Id: ENST00000609748   ⟹   ENSP00000476690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1453,951,423 - 53,951,880 (-)Ensembl
RefSeq Acc Id: NM_001202   ⟹   NP_001193
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,949,736 - 53,956,825 (-)NCBI
GRCh371454,416,454 - 54,423,554 (-)ENTREZGENE
Build 361453,486,204 - 53,493,304 (-)NCBI Archive
HuRef1434,579,652 - 34,586,754 (-)ENTREZGENE
CHM1_11454,355,438 - 54,362,564 (-)NCBI
T2T-CHM13v2.01448,157,959 - 48,165,052 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347912   ⟹   NP_001334841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,949,736 - 53,956,891 (-)NCBI
T2T-CHM13v2.01448,157,959 - 48,165,118 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347913   ⟹   NP_001334842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,949,736 - 53,956,825 (-)NCBI
T2T-CHM13v2.01448,157,959 - 48,165,052 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347914   ⟹   NP_001334843
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,949,736 - 53,953,395 (-)NCBI
T2T-CHM13v2.01448,157,959 - 48,161,620 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347915   ⟹   NP_001334844
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,949,736 - 53,953,395 (-)NCBI
T2T-CHM13v2.01448,157,959 - 48,161,620 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347916   ⟹   NP_001334845
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,949,736 - 53,955,050 (-)NCBI
T2T-CHM13v2.01448,157,959 - 48,163,277 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347917   ⟹   NP_001334846
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,949,736 - 53,955,050 (-)NCBI
T2T-CHM13v2.01448,157,959 - 48,163,277 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130850   ⟹   NP_570911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,949,736 - 53,956,891 (-)NCBI
GRCh371454,416,454 - 54,423,554 (-)ENTREZGENE
Build 361453,486,204 - 53,493,304 (-)NCBI Archive
HuRef1434,579,652 - 34,586,754 (-)ENTREZGENE
CHM1_11454,355,438 - 54,362,564 (-)NCBI
T2T-CHM13v2.01448,157,959 - 48,165,118 (-)NCBI
Sequence:
RefSeq Acc Id: NM_130851   ⟹   NP_570912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,949,736 - 53,954,488 (-)NCBI
GRCh371454,416,454 - 54,423,554 (-)ENTREZGENE
Build 361453,486,204 - 53,491,020 (-)NCBI Archive
HuRef1434,579,652 - 34,586,754 (-)ENTREZGENE
T2T-CHM13v2.01448,157,959 - 48,162,715 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001193 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334841 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334842 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334843 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334844 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334845 (Get FASTA)   NCBI Sequence Viewer  
  NP_001334846 (Get FASTA)   NCBI Sequence Viewer  
  NP_570911 (Get FASTA)   NCBI Sequence Viewer  
  NP_570912 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51835 (Get FASTA)   NCBI Sequence Viewer  
  AAC72278 (Get FASTA)   NCBI Sequence Viewer  
  AAH20546 (Get FASTA)   NCBI Sequence Viewer  
  ACB21039 (Get FASTA)   NCBI Sequence Viewer  
  AGW21692 (Get FASTA)   NCBI Sequence Viewer  
  AIU47303 (Get FASTA)   NCBI Sequence Viewer  
  AIU47304 (Get FASTA)   NCBI Sequence Viewer  
  AIU47305 (Get FASTA)   NCBI Sequence Viewer  
  AIU47306 (Get FASTA)   NCBI Sequence Viewer  
  AMM45322 (Get FASTA)   NCBI Sequence Viewer  
  AMM45323 (Get FASTA)   NCBI Sequence Viewer  
  AMM45324 (Get FASTA)   NCBI Sequence Viewer  
  AMM63596 (Get FASTA)   NCBI Sequence Viewer  
  ANT47174 (Get FASTA)   NCBI Sequence Viewer  
  ANT47175 (Get FASTA)   NCBI Sequence Viewer  
  ANT47176 (Get FASTA)   NCBI Sequence Viewer  
  BAA06410 (Get FASTA)   NCBI Sequence Viewer  
  CAD57968 (Get FASTA)   NCBI Sequence Viewer  
  CAD61876 (Get FASTA)   NCBI Sequence Viewer  
  CAD61909 (Get FASTA)   NCBI Sequence Viewer  
  CBE74713 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43131 (Get FASTA)   NCBI Sequence Viewer  
  EAW80628 (Get FASTA)   NCBI Sequence Viewer  
  EAW80629 (Get FASTA)   NCBI Sequence Viewer  
  EAW80630 (Get FASTA)   NCBI Sequence Viewer  
  EAW80631 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000245451
  ENSP00000245451.4
  ENSP00000394165
  ENSP00000394165.1
  ENSP00000453365.1
  ENSP00000453467.1
  ENSP00000453485
  ENSP00000453485.1
  ENSP00000453691.1
  ENSP00000454134
  ENSP00000454134.1
  ENSP00000476690.1
GenBank Protein P12644 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_570911   ⟸   NM_130850
- Peptide Label: isoform a preproprotein
- UniProtKB: Q9UM80 (UniProtKB/Swiss-Prot),   P12644 (UniProtKB/Swiss-Prot),   Q53XC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193   ⟸   NM_001202
- Peptide Label: isoform a preproprotein
- UniProtKB: Q9UM80 (UniProtKB/Swiss-Prot),   P12644 (UniProtKB/Swiss-Prot),   Q53XC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_570912   ⟸   NM_130851
- Peptide Label: isoform a preproprotein
- UniProtKB: Q9UM80 (UniProtKB/Swiss-Prot),   P12644 (UniProtKB/Swiss-Prot),   Q53XC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334841   ⟸   NM_001347912
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001334842   ⟸   NM_001347913
- Peptide Label: isoform c
- UniProtKB: A0A097PIE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334846   ⟸   NM_001347917
- Peptide Label: isoform c
- UniProtKB: A0A097PIE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334845   ⟸   NM_001347916
- Peptide Label: isoform a preproprotein
- UniProtKB: Q9UM80 (UniProtKB/Swiss-Prot),   P12644 (UniProtKB/Swiss-Prot),   Q53XC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334844   ⟸   NM_001347915
- Peptide Label: isoform c
- UniProtKB: A0A097PIE4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334843   ⟸   NM_001347914
- Peptide Label: isoform a preproprotein
- UniProtKB: Q9UM80 (UniProtKB/Swiss-Prot),   P12644 (UniProtKB/Swiss-Prot),   Q53XC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000476690   ⟸   ENST00000609748
RefSeq Acc Id: ENSP00000454134   ⟸   ENST00000558984
RefSeq Acc Id: ENSP00000453691   ⟸   ENST00000558961
RefSeq Acc Id: ENSP00000453365   ⟸   ENST00000559501
RefSeq Acc Id: ENSP00000453467   ⟸   ENST00000559642
RefSeq Acc Id: ENSP00000453485   ⟸   ENST00000559087
RefSeq Acc Id: ENSP00000245451   ⟸   ENST00000245451
RefSeq Acc Id: ENSP00000394165   ⟸   ENST00000417573
Protein Domains
TGF-beta family profile   TGF-beta propeptide

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12644-F1-model_v2 AlphaFold P12644 1-408 view protein structure

Promoters
RGD ID:6791299
Promoter ID:HG_KWN:19400
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC001XAL.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361453,490,156 - 53,490,817 (-)MPROMDB
RGD ID:6791297
Promoter ID:HG_KWN:19401
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_130851
Position:
Human AssemblyChrPosition (strand)Source
Build 361453,490,756 - 53,491,256 (-)MPROMDB
RGD ID:6791296
Promoter ID:HG_KWN:19402
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000245451,   NM_130850
Position:
Human AssemblyChrPosition (strand)Source
Build 361453,492,996 - 53,493,496 (-)MPROMDB
RGD ID:7227645
Promoter ID:EPDNEW_H19567
Type:initiation region
Name:BMP4_1
Description:bone morphogenetic protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19568  EPDNEW_H19569  EPDNEW_H19570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,953,395 - 53,953,455EPDNEW
RGD ID:7227643
Promoter ID:EPDNEW_H19568
Type:initiation region
Name:BMP4_3
Description:bone morphogenetic protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19567  EPDNEW_H19569  EPDNEW_H19570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,954,783 - 53,954,843EPDNEW
RGD ID:7227647
Promoter ID:EPDNEW_H19569
Type:initiation region
Name:BMP4_2
Description:bone morphogenetic protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19568  EPDNEW_H19567  EPDNEW_H19570  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,956,822 - 53,956,882EPDNEW
RGD ID:7227649
Promoter ID:EPDNEW_H19570
Type:initiation region
Name:BMP4_4
Description:bone morphogenetic protein 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19568  EPDNEW_H19567  EPDNEW_H19569  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381453,958,781 - 53,958,841EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1071 AgrOrtholog
COSMIC BMP4 COSMIC
Ensembl Genes ENSG00000125378 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000245451 ENTREZGENE
  ENST00000245451.9 UniProtKB/Swiss-Prot
  ENST00000417573 ENTREZGENE
  ENST00000417573.5 UniProtKB/Swiss-Prot
  ENST00000558961.1 UniProtKB/TrEMBL
  ENST00000558984 ENTREZGENE
  ENST00000558984.1 UniProtKB/Swiss-Prot
  ENST00000559087 ENTREZGENE
  ENST00000559087.5 UniProtKB/Swiss-Prot
  ENST00000559501.1 UniProtKB/TrEMBL
  ENST00000559642.1 UniProtKB/TrEMBL
  ENST00000609748.1 UniProtKB/TrEMBL
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.970 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125378 GTEx
HGNC ID HGNC:1071 ENTREZGENE
Human Proteome Map BMP4 Human Proteome Map
InterPro BMP4_TGF_beta-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-b_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-beta-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:652 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 652 ENTREZGENE
OMIM 112262 OMIM
PANTHER BONE MORPHOGENETIC PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25381 PharmGKB
PRINTS INHIBINA UniProtKB/TrEMBL
PROSITE TGF_BETA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF_BETA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TGFB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A097PIE4 ENTREZGENE, UniProtKB/TrEMBL
  A0A097PIG0_HUMAN UniProtKB/TrEMBL
  A0A140G956_HUMAN UniProtKB/TrEMBL
  A0A1B1PFV3_HUMAN UniProtKB/TrEMBL
  A0A1B1PFV8_HUMAN UniProtKB/TrEMBL
  BMP4_HUMAN UniProtKB/Swiss-Prot
  H0YLW3_HUMAN UniProtKB/TrEMBL
  H0YM53_HUMAN UniProtKB/TrEMBL
  H0YMP9_HUMAN UniProtKB/TrEMBL
  L8E8S7_HUMAN UniProtKB/TrEMBL
  P12644 ENTREZGENE
  Q53XC5 ENTREZGENE, UniProtKB/TrEMBL
  Q9UM80 ENTREZGENE
  U3MVU6_HUMAN UniProtKB/TrEMBL
  V9GYF1_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q9UM80 UniProtKB/Swiss-Prot