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
Description: Enables BMP receptor binding activity; co-receptor binding activity; and receptor ligand activity. Involved in several processes, including animal organ development; negative regulation of cell population proliferation; and transmembrane receptor protein serine/threonine kinase signaling pathway. 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 otosclerosis. Biomarker of several diseases, including Barrett's esophagus; eye disease (multiple); myositis ossificans; progressive osseous heteroplasia; and prolactinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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
GRCh38.p13 Ensembl1453,949,736 - 53,958,761 (-)EnsemblGRCh38hg38GRCh38
GRCh381453,949,736 - 53,956,891 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371454,416,454 - 54,423,609 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361453,486,204 - 53,493,304 (-)NCBINCBI36hg18NCBI36
Build 341453,486,206 - 53,491,020NCBI
Celera1434,466,196 - 34,473,296 (-)NCBI
Cytogenetic Map14q22.2NCBI
HuRef1434,579,652 - 34,586,754 (-)NCBIHuRef
CHM1_11454,355,438 - 54,362,538 (-)NCBICHM1_1
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)
breast cancer  (IEP)
Breast Neoplasms  (EXP)
CAKUT  (IAGP)
CAKUT2  (IAGP)
calcinosis  (IEP)
Cardiomegaly  (ISO)
cartilage disease  (IDA)
CHARGE syndrome  (ISO)
Choroidal Neovascularization  (ISO)
cleft lip  (IAGP)
cleft palate-lateral synechia syndrome  (ISS)
Colorectal Neoplasms  (EXP)
congenital diaphragmatic hernia  (ISO)
Congenital Limb Deformities  (ISO)
Cranial Nerve Injuries  (ISO)
Diaphragmatic Hernia  (EXP)
Endometrioid Carcinomas  (IEP)
epilepsy  (ISO)
esophagitis  (IEP)
Experimental Liver Cirrhosis  (ISO)
Femoral Fractures  (IDA,ISO)
Fetal Growth Retardation  (ISO)
fibrodysplasia ossificans progressiva  (ISS)
Focal Cortical Dysplasia of Taylor  (IEP)
Fractures, Cartilage  (IDA)
genetic disease  (IAGP)
Gliosis  (ISO)
granulosa cell tumor  (ISO)
Hearing Loss  (ISO)
Hyperoxia  (ISO)
Hypoxia-Ischemia, Brain  (ISO)
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  (IAGP)
ossification of the posterior longitudinal ligament of spine  (IAGP)
osteoarthritis  (EXP)
Osteoarthritis, Experimental  (IDA)
otosclerosis  (IAGP)
peptic esophagitis  (ISO)
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  (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)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (ISO)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
antimonite  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
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)
carbamazepine  (EXP)
carbon nanotube  (ISO)
casticin  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP,ISO)
cytarabine  (EXP)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dichromium trioxide  (EXP)
diclofenac  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethylenediaminetetraacetic acid  (EXP)
Ethylenethiourea  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
glycidol  (ISO)
hydrogen peroxide  (EXP,ISO)
icariin  (ISO)
iloprost  (EXP)
indole-3-methanol  (ISO)
kaempferol  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
linuron  (ISO)
lithium chloride  (EXP)
maneb  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
methotrexate  (EXP,ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
mitomycin C  (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)
phenylmercury acetate  (EXP)
phenytoin  (ISO)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
pinosylvin  (EXP)
potassium chromate  (EXP)
progesterone  (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)
sulforaphane  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (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)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure formation involved in morphogenesis  (ISO)
anatomical structure regression  (ISO)
angiogenesis  (ISO)
anterior/posterior axis specification  (IEA,ISO)
aortic valve morphogenesis  (ISS)
apoptotic process involved in endocardial cushion morphogenesis  (ISS)
blood vessel development  (ISO)
blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (IDA)
BMP signaling pathway  (IDA,IMP)
BMP signaling pathway involved in heart development  (ISS)
BMP signaling pathway involved in heart induction  (IMP)
BMP signaling pathway involved in nephric duct formation  (IDA)
BMP signaling pathway involved in renal system segmentation  (ISS)
BMP signaling pathway involved in ureter morphogenesis  (ISS)
bone development  (ISO)
brain development  (ISO)
branching involved in prostate gland morphogenesis  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (IDA,ISO)
branching morphogenesis of an epithelial tube  (IDA)
bronchus development  (IDA)
bud dilation involved in lung branching  (IDA)
bud elongation involved in lung branching  (IEA,ISO)
camera-type eye development  (ISO)
camera-type eye morphogenesis  (ISO)
cardiac jelly development  (ISS)
cardiac muscle cell differentiation  (IEA)
cardiac right ventricle morphogenesis  (ISS)
cardiac septum development  (TAS)
cell fate commitment  (ISO)
cellular response to BMP stimulus  (IMP,ISO)
cellular response to dexamethasone stimulus  (ISO)
cellular response to growth factor stimulus  (ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to oxidative stress  (ISO)
cellular response to thyroid hormone stimulus  (ISO)
chondrocyte differentiation  (ISS)
cloacal septation  (IEA,ISO)
common-partner SMAD protein phosphorylation  (IDA)
coronary vasculature development  (ISS)
cranial suture morphogenesis  (IEA,ISO)
deltoid tuberosity development  (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  (ISO)
embryonic morphogenesis  (ISO)
embryonic skeletal joint morphogenesis  (IEA,ISO)
embryonic skeletal system development  (ISO)
embryonic skeletal system morphogenesis  (ISO)
endocardial cushion development  (ISS)
endochondral ossification  (ISS)
endoderm development  (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  (ISO)
erythrocyte differentiation  (IEA,ISO)
eye development  (ISO)
forebrain development  (ISO)
germ cell development  (IEA,ISO)
glomerular capillary formation  (ISS)
glomerular visceral epithelial cell development  (IEA,ISO)
heart development  (ISO)
hematopoietic progenitor cell differentiation  (IDA,ISO)
inner ear receptor cell differentiation  (IEA,ISO)
intermediate mesodermal cell differentiation  (IDA)
kidney development  (IMP,ISO)
lens induction in camera-type eye  (IEA,ISO)
lung alveolus development  (IDA)
lung development  (ISO)
lung lobe development  (ISO)
lung morphogenesis  (IDA)
lymphoid progenitor cell differentiation  (IMP)
macrophage differentiation  (IDA)
mammary gland formation  (IEA,ISO)
membranous septum morphogenesis  (ISS)
mesenchymal cell differentiation involved in kidney development  (IEA)
mesenchymal cell differentiation involved in renal system development  (ISO)
mesenchymal cell proliferation involved in ureter development  (IEA,ISO)
mesenchymal cell proliferation involved in ureteric bud development  (IEA,ISO)
mesenchymal to epithelial transition involved in metanephros morphogenesis  (IDA)
mesoderm formation  (ISO)
mesodermal cell differentiation  (ISO)
mesodermal cell fate determination  (IEA,ISO)
mesonephros development  (IEP)
metanephric collecting duct development  (ISS)
metanephros development  (ISO)
monocyte differentiation  (IDA)
muscular septum morphogenesis  (ISS)
negative regulation of apoptotic process  (IBA,IDA)
negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway  (IDA)
negative regulation of branching involved in ureteric bud morphogenesis  (IDA,ISO)
negative regulation of cell cycle  (IDA)
negative regulation of cell death  (IDA)
negative regulation of cell population proliferation  (IDA)
negative regulation of cell proliferation involved in heart morphogenesis  (IMP)
negative regulation of chondrocyte differentiation  (IEA,ISO)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of extrinsic apoptotic signaling pathway  (ISS)
negative regulation of gene expression  (IDA,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 MAP kinase activity  (IDA)
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 mitotic nuclear division  (IDA)
negative regulation of myoblast differentiation  (IDA)
negative regulation of oligodendrocyte differentiation  (ISO)
negative regulation of phosphorylation  (IDA)
negative regulation of pri-miRNA transcription by RNA polymerase II  (IDA)
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  (IBA,IDA,ISS)
negative regulation of transcription, DNA-templated  (IDA)
neural tube closure  (IEA,ISO)
neuron fate commitment  (IEA,ISO)
odontogenesis  (IGI,ISO)
odontogenesis of dentin-containing tooth  (IEA,ISO)
organ induction  (ISO)
osteoblast differentiation  (IDA,ISO)
outflow tract morphogenesis  (ISO)
outflow tract septum morphogenesis  (ISS)
ovarian follicle development  (ISO)
pharyngeal arch artery morphogenesis  (ISS)
pituitary gland development  (IEA,ISO)
positive chemotaxis  (IEA)
positive regulation of apoptotic process  (IDA)
positive regulation of BMP signaling pathway  (ISS)
positive regulation of bone mineralization  (IDA,ISO)
positive regulation of branching involved in lung morphogenesis  (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 death  (IDA)
positive regulation of cell differentiation  (ISO)
positive regulation of cell migration  (ISO)
positive regulation of cell population proliferation  (IDA,ISO)
positive regulation of cell proliferation involved in outflow tract morphogenesis  (ISS)
positive regulation of collagen biosynthetic process  (IDA)
positive regulation of endothelial cell apoptotic process  (ISO)
positive regulation of endothelial cell differentiation  (IEA)
positive regulation of endothelial cell migration  (IDA)
positive regulation of endothelial cell proliferation  (IDA)
positive regulation of epidermal cell differentiation  (IDA)
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,ISO)
positive regulation of hepatocyte differentiation  (ISO)
positive regulation of kidney development  (IDA)
positive regulation of MAPK cascade  (IDA)
positive regulation of mesenchymal stem cell proliferation  (ISO)
positive regulation of neuron differentiation  (IEA,ISO)
positive regulation of neuron projection development  (ISO)
positive regulation of ossification  (IDA,ISO)
positive regulation of osteoblast differentiation  (IDA,ISO)
positive regulation of p38MAPK cascade  (IDA)
positive regulation of pathway-restricted SMAD protein phosphorylation  (IBA,IDA,IMP)
positive regulation of pri-miRNA transcription by RNA polymerase II  (ISO)
positive regulation of production of miRNAs involved in gene silencing by miRNA  (IDA)
positive regulation of protein binding  (IDA)
positive regulation of protein phosphorylation  (IDA)
positive regulation of SMAD protein signal transduction  (IDA)
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,IGI,ISS)
positive regulation of transcription, DNA-templated  (IDA)
post-embryonic development  (IDA)
prostate gland morphogenesis  (ISO)
protein localization to nucleus  (IDA)
pulmonary artery endothelial tube morphogenesis  (IDA)
pulmonary valve morphogenesis  (ISS)
regulation of branching involved in prostate gland morphogenesis  (IEA,ISO)
regulation of cartilage development  (ISO)
regulation of cell differentiation  (ISO)
regulation of cell fate commitment  (IDA)
regulation of ERK1 and ERK2 cascade  (ISO)
regulation of gene expression  (ISO)
regulation of morphogenesis of a branching structure  (ISO)
regulation of odontogenesis of dentin-containing tooth  (IEA,ISO)
regulation of pathway-restricted SMAD protein phosphorylation  (IDA)
regulation of pri-miRNA transcription by RNA polymerase II  (IMP)
regulation of protein import into nucleus  (IDA)
regulation of smooth muscle cell differentiation  (IEA,ISO)
regulation of smooth muscle cell proliferation  (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  (ISO)
SMAD protein signal transduction  (IBA,IDA,ISO)
smooth muscle cell differentiation  (ISO)
smooth muscle tissue development  (IEP,ISS)
specification of animal organ position  (IEA,ISO)
specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway  (IDA)
steroid hormone mediated signaling pathway  (IMP)
telencephalon development  (IDA)
telencephalon regionalization  (IEA,ISO)
tendon cell differentiation  (ISS)
tissue development  (ISO)
tongue morphogenesis  (ISO)
trachea development  (IDA)
trachea formation  (IEA,ISO)
type B pancreatic cell development  (IDA)
ureter epithelial cell differentiation  (ISS)
ureter smooth muscle cell differentiation  (ISS)
ureteric bud development  (IDA)
vasculature development  (ISO)
wound healing  (ISO)

Cellular Component

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 cervical spine  (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 scrotum  (IAGP)
Bifid uvula  (IAGP)
Bilateral cleft palate  (IAGP)
Blindness  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Cataract  (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)
Female hypogonadism  (IAGP)
Finger syndactyly  (IAGP)
Flexion contracture of thumb  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Inferior vermis hypoplasia  (IAGP)
Iris coloboma  (IAGP)
Lambdoidal craniosynostosis  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Malnutrition  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microglossia  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Myopia  (IAGP)
Nail dysplasia  (IAGP)
Nasal speech  (IAGP)
Nystagmus  (IAGP)
Oral-pharyngeal dysphagia  (IAGP)
Orbital cyst  (IAGP)
Palate fistula  (IAGP)
Peg-shaped maxillary lateral incisors  (IAGP)
Plagiocephaly  (IAGP)
Polygenic inheritance  (IAGP)
Poor suck  (IAGP)
Postaxial foot polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Preaxial hand polydactyly  (IAGP)
Primary amenorrhea  (IAGP)
Protruding ear  (IAGP)
Proximal placement of thumb  (IAGP)
Psychomotor retardation  (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)
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
1. Alarmo EL, etal., Breast Cancer Res Treat. 2007 Jun;103(2):239-46. Epub 2006 Sep 21.
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Additional References at PubMed
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PMID:8702914   PMID:8752214   PMID:8889548   PMID:9187146   PMID:9389648   PMID:9701626   PMID:9804553   PMID:10021330   PMID:10457277   PMID:10657699   PMID:10706139   PMID:10809227  
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PMID:19923894   PMID:19950207   PMID:20001220   PMID:20023658   PMID:20054823   PMID:20057906   PMID:20144598   PMID:20157553   PMID:20182795   PMID:20301552   PMID:20437058   PMID:20480203  
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PMID:26103914   PMID:26173116   PMID:26215597   PMID:26304754   PMID:26339396   PMID:26386860   PMID:26406943   PMID:26426615   PMID:26676745   PMID:26684238   PMID:26748560   PMID:26769046  
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PMID:33982211  


Genomics

Comparative Map Data
BMP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1453,949,736 - 53,958,761 (-)EnsemblGRCh38hg38GRCh38
GRCh381453,949,736 - 53,956,891 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371454,416,454 - 54,423,609 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361453,486,204 - 53,493,304 (-)NCBINCBI36hg18NCBI36
Build 341453,486,206 - 53,491,020NCBI
Celera1434,466,196 - 34,473,296 (-)NCBI
Cytogenetic Map14q22.2NCBI
HuRef1434,579,652 - 34,586,754 (-)NCBIHuRef
CHM1_11454,355,438 - 54,362,538 (-)NCBICHM1_1
Bmp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391446,620,982 - 46,628,126 (-)NCBIGRCm39mm39
GRCm39 Ensembl1446,620,977 - 46,628,126 (-)Ensembl
GRCm381446,383,525 - 46,390,669 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1446,383,520 - 46,390,669 (-)EnsemblGRCm38mm10GRCm38
MGSCv371447,003,195 - 47,010,274 (-)NCBIGRCm37mm9NCBIm37
MGSCv361445,305,736 - 45,309,065 (-)NCBImm8
Celera1442,555,453 - 42,562,519 (-)NCBICelera
Cytogenetic Map14C1NCBI
cM Map1423.95NCBI
Bmp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21519,618,538 - 19,633,494 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1519,618,542 - 19,623,306 (-)Ensembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11452,821,872 - 52,828,781 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1452,821,872 - 52,828,752 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01434,542,132 - 34,549,286 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.0830,252,884 - 30,601,864 (-)NCBI
UMICH_Zoey_3.1829,856,480 - 29,863,475 (-)NCBI
UNSW_CanFamBas_1.0829,933,754 - 29,940,734 (-)NCBI
UU_Cfam_GSD_1.0830,299,531 - 30,306,532 (-)NCBI
Dog Cytomap8q21NCBI
Bmp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864075,280,082 - 75,287,313 (+)NCBI
SpeTri2.0NW_0049366971,054,237 - 1,061,468 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1183,416,134 - 183,792,417 (-)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 (-)NCBI
ChlSab1.1 Ensembl2431,097,538 - 31,101,225 (-)Ensembl
Vero_WHO_p1.0NW_02366605319,326,010 - 19,333,125 (-)NCBI
Bmp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473115,262,480 - 15,269,196 (+)NCBI

Position Markers
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

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.


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
  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
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1453,949,736 - 53,956,825 (-)Ensembl
RefSeq Acc Id: ENST00000417573   ⟹   ENSP00000394165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1453,949,739 - 53,954,552 (-)Ensembl
RefSeq Acc Id: ENST00000558489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1453,955,466 - 53,956,648 (-)Ensembl
RefSeq Acc Id: ENST00000558961   ⟹   ENSP00000453691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1453,950,622 - 53,952,147 (-)Ensembl
RefSeq Acc Id: ENST00000558984   ⟹   ENSP00000454134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1453,949,741 - 53,953,455 (-)Ensembl
RefSeq Acc Id: ENST00000559087   ⟹   ENSP00000453485
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1453,949,736 - 53,956,811 (-)Ensembl
RefSeq Acc Id: ENST00000559501   ⟹   ENSP00000453365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1453,950,255 - 53,953,429 (-)Ensembl
RefSeq Acc Id: ENST00000559642   ⟹   ENSP00000453467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1453,951,892 - 53,958,761 (-)Ensembl
RefSeq Acc Id: ENST00000609748   ⟹   ENSP00000476690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
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
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
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
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
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
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
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  
  P12644 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_570911   ⟸   NM_130850
- Peptide Label: isoform a preproprotein
- UniProtKB: P12644 (UniProtKB/Swiss-Prot),   Q53XC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193   ⟸   NM_001202
- Peptide Label: isoform a preproprotein
- UniProtKB: P12644 (UniProtKB/Swiss-Prot),   Q53XC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_570912   ⟸   NM_130851
- Peptide Label: isoform a preproprotein
- UniProtKB: 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
- Sequence:
RefSeq Acc Id: NP_001334846   ⟸   NM_001347917
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001334845   ⟸   NM_001347916
- Peptide Label: isoform a preproprotein
- UniProtKB: P12644 (UniProtKB/Swiss-Prot),   Q53XC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334844   ⟸   NM_001347915
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001334843   ⟸   NM_001347914
- Peptide Label: isoform a preproprotein
- UniProtKB: 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_2   TGFb_propeptide

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

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
BMP4, DEL deletion Microphthalmia with brain and digit anomalies [RCV000022454] Chr14:14q22-q23 pathogenic
BMP4, 1-BP DUP, 171C duplication Microphthalmia with brain and digit anomalies [RCV000022457] Chr14:14q22-q23 pathogenic
BMP4, 2-BP DEL, 226AG deletion Microphthalmia with brain and digit anomalies [RCV000019274] Chr14:14q22-q23 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 Microphthalmia with brain and digit anomalies [RCV000022458]|Microphthalmia with brain and digit anomalies [RCV000952724]|Orofacial cleft 11 [RCV001114025] 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]|Orofacial cleft 11 [RCV000019277]|not provided [RCV000887444] 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 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] 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] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2
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] 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]|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] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2
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] Chr14:53949883 [GRCh38]
Chr14:54416601 [GRCh37]
Chr14:14q22.2
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] Chr14:53949883..53949884 [GRCh38]
Chr14:54416601..54416602 [GRCh37]
Chr14:14q22.2
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 not provided [RCV000431465] Chr14:53950361 [GRCh38]
Chr14:54417079 [GRCh37]
Chr14:14q22.2
uncertain significance
NM_001202.6(BMP4):c.58G>A (p.Gly20Ser) single nucleotide variant Tooth agenesis [RCV000681618] 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
NM_001202.6(BMP4):c.252G>A (p.Arg84=) single nucleotide variant not provided [RCV000951773]|not specified [RCV000501077] Chr14:53951971 [GRCh38]
Chr14:54418689 [GRCh37]
Chr14:14q22.2
likely benign
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] 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 Microphthalmia with brain and digit anomalies [RCV001112673]|Orofacial cleft 11 [RCV001112672]|not provided [RCV000594335] Chr14:53950583 [GRCh38]
Chr14:54417301 [GRCh37]
Chr14:14q22.2
likely benign|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.*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 not provided [RCV000964795] 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] Chr14:53950757 [GRCh38]
Chr14:54417475 [GRCh37]
Chr14:14q22.2
likely benign
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.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.806G>A (p.Arg269Gln) single nucleotide variant not provided [RCV000902808] 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] 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] Chr14:53950586 [GRCh38]
Chr14:54417304 [GRCh37]
Chr14:14q22.2
benign
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
NM_001202.6(BMP4):c.450C>T (p.Asn150=) single nucleotide variant not provided [RCV000964778] 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]|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 not provided [RCV001557970] Chr14:53950582 [GRCh38]
Chr14:54417300 [GRCh37]
Chr14:14q22.2
likely benign
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.753T>C (p.His251=) single nucleotide variant Orofacial cleft 11 [RCV001112671] Chr14:53950506 [GRCh38]
Chr14:54417224 [GRCh37]
Chr14:14q22.2
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 Microphthalmia with brain and digit anomalies [RCV001110773]|Orofacial cleft 11 [RCV001110772] Chr14:53952099 [GRCh38]
Chr14:54418817 [GRCh37]
Chr14:14q22.2
likely benign|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 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] 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] 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] Chr14:53952392 [GRCh38]
Chr14:54419110 [GRCh37]
Chr14:14q22.2
benign

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 Protein ENSP00000245451 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394165 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000453365 UniProtKB/TrEMBL
  ENSP00000453467 UniProtKB/TrEMBL
  ENSP00000453485 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000453691 UniProtKB/TrEMBL
  ENSP00000454134 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000476690 UniProtKB/TrEMBL
Ensembl Transcript ENST00000245451 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417573 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000558961 UniProtKB/TrEMBL
  ENST00000558984 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000559087 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000559501 UniProtKB/TrEMBL
  ENST00000559642 UniProtKB/TrEMBL
  ENST00000609748 UniProtKB/TrEMBL
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125378 GTEx
HGNC ID HGNC:1071 ENTREZGENE
Human Proteome Map BMP4 Human Proteome Map
InterPro 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
  600625 OMIM
  607932 OMIM
PANTHER PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25381 PharmGKB
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_HUMAN 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
  U3MVU6_HUMAN UniProtKB/TrEMBL
  V9GYF1_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q9UM80 UniProtKB/Swiss-Prot