BMP4 (bone morphogenetic protein 4) - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: BMP4 (bone morphogenetic protein 4) Homo sapiens
Analyze
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.
2. Araújo TK, etal., Plast Surg Int. 2012;2012:247104. doi: 10.1155/2012/247104. Epub 2012 Nov 27.
3. Blauwkamp MN, etal., Hear Res. 2007 Mar;225(1-2):71-9. Epub 2006 Dec 28.
4. Boerboom D, etal., Cancer Res. 2006 Feb 15;66(4):1964-73.
5. 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. Chang B, etal., BMC Genet. 2001;2:18. Epub 2001 Nov 6.
7. Crowley AR, etal., J Pediatr Surg. 2006 Jul;41(7):1208-13.
8. Davies JE, etal., J Biol. 2008 Sep 19;7(7):24. doi: 10.1186/jbiol85.
9. Del Signore A, etal., Eur J Neurosci. 2006 Jan;23(1):65-74.
10. Ealy M, etal., Otol Neurotol. 2014 Mar;35(3):395-400. doi: 10.1097/MAO.0000000000000244.
11. Fan J, etal., J Cell Physiol. 2006 May;207(2):499-505.
12. Fukada T, etal., PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5.
13. Fuller ML, etal., Ann Neurol. 2007 Sep;62(3):288-300.
14. GOA_HUMAN data from the GO Consortium
15. Gong M, etal., Eur Rev Med Pharmacol Sci. 2015 Jun;19(12):2188-94.
16. Guo W, etal., J Mol Neurosci. 2013 May;50(1):7-13. doi: 10.1007/s12031-012-9841-2. Epub 2012 Jul 3.
17. Han DK, etal., J Periodontol. 2005 Dec;76(12):2216-22.
18. He JL, etal., Eur J Pediatr. 2012 Mar;171(3):451-6. doi: 10.1007/s00431-011-1561-z. Epub 2011 Sep 17.
19. 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. 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. Kim SG, etal., J Oral Pathol Med. 2006 Jan;35(1):37-45.
22. 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. Kitada M, etal., Strabismus. 2003 Sep;11(3):145-55.
24. Kuroda R, etal., Arthritis Rheum. 2006 Feb;54(2):433-42.
25. Kwak C, etal., J Urol. 2007 Sep;178(3 Pt 1):1062-7. Epub 2007 Jul 20.
26. Lee JE, etal., Mol Vis. 2009 Nov 28;15:2480-7.
27. Li ZL, etal., Zhonghua Nan Ke Xue. 2006 Feb;12(2):126-8, 132.
28. Lin JY, etal., DNA Cell Biol. 2008 Nov;27(11):601-5. doi: 10.1089/dna.2008.0777.
29. Mandhan P, etal., J Pediatr Surg. 2006 Dec;41(12):2041-5.
30. Matsumoto T, etal., Arthritis Rheum. 2008 Dec;58(12):3809-19. doi: 10.1002/art.24125.
31. Matsumoto T, etal., Arthritis Rheum. 2009 May;60(5):1390-405. doi: 10.1002/art.24443.
32. Meng XL, etal., Chin Med J (Engl). 2010 Sep;123(18):2537-42.
33. Milano F, etal., Gastroenterology. 2007 Jun;132(7):2412-21. Epub 2007 Mar 19.
34. Mu Y, etal., Genet Mol Res. 2012 Nov 28;11(4):4110-20. doi: 10.4238/2012.September.25.5.
35. Naruse T, etal., Dev Growth Differ. 2007 Aug;49(6):533-41.
36. Ngo TQ, etal., J Histochem Cytochem. 2006 Aug;54(8):945-54. Epub 2006 May 1.
37. OMIM Disease Annotation Pipeline
38. Paez-Pereda M, etal., Proc Natl Acad Sci U S A 2003 Feb 4;100(3):1034-9.
39. Pipeline to import KEGG annotations from KEGG into RGD
40. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
41. Qian B, etal., Pediatr Cardiol. 2014 Dec;35(8):1442-7. doi: 10.1007/s00246-014-0951-1. Epub 2014 Jul 15.
42. Reid MV, etal., J Neuropathol Exp Neurol. 2012 Jul;71(7):640-53. doi: 10.1097/NEN.0b013e31825cfa81.
43. 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. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
45. RGD automated import pipeline for gene-chemical interactions
46. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
47. Rundle CH, etal., Bone. 2003 Jun;32(6):591-601.
48. 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. 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. Schrauwen I, etal., J Bone Miner Res. 2008 Apr;23(4):507-16.
51. Schwartz DR, etal., Cancer Res. 2003 Jun 1;63(11):2913-22.
52. Shafritz AB, etal., N Engl J Med 1996 Aug 22;335(8):555-61.
53. Shen HC, etal., J Gene Med. 2004 Sep;6(9):984-91.
54. 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.
55. Takayasu H, etal., J Pediatr Surg. 2008 Feb;43(2):362-6. doi: 10.1016/j.jpedsurg.2007.10.047.
56. 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.
57. Xu J, etal., Angiogenesis. 2012 Jun;15(2):213-27. doi: 10.1007/s10456-012-9254-4. Epub 2012 Mar 4.
58. Xu J, etal., FASEB J. 2011 Jul;25(7):2221-33. doi: 10.1096/fj.10-178350. Epub 2011 Mar 16.
59. Yaoita H, etal., J Bone Miner Metab. 2000;18(2):63-70.
60. Yin J, etal., Biochem Biophys Res Commun. 2007 Mar 30;355(1):54-60. Epub 2007 Jan 29.
61. Yin X, etal., Int J Clin Exp Pathol. 2013;6(1):66-75. Epub 2012 Nov 20.
62. Zhang C, etal., Neuroscience. 2006 Aug 25;141(2):687-95. Epub 2006 May 30.
63. Zhang J, etal., J Int Med Res. 2009 Nov-Dec;37(6):1842-50.
64. 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
PMID:3201241   PMID:7558046   PMID:7579580   PMID:7644468   PMID:7673243   PMID:7811286   PMID:8006002   PMID:8146069   PMID:8339498   PMID:8413626   PMID:8645259   PMID:8674409  
PMID:8702914   PMID:8752214   PMID:8889548   PMID:9187146   PMID:9389648   PMID:9701626   PMID:9804553   PMID:10021330   PMID:10457277   PMID:10657699   PMID:10706139   PMID:10809227  
PMID:10894154   PMID:11023873   PMID:11156467   PMID:11241215   PMID:11260715   PMID:11282024   PMID:11336702   PMID:11427739   PMID:11441185   PMID:11472891   PMID:11502704   PMID:11642720  
PMID:11706034   PMID:11771659   PMID:11865031   PMID:11867524   PMID:12019147   PMID:12045205   PMID:12054672   PMID:12064918   PMID:12141440   PMID:12163415   PMID:12235106   PMID:12379229  
PMID:12399320   PMID:12404109   PMID:12421925   PMID:12445813   PMID:12477932   PMID:12531697   PMID:12606287   PMID:12631064   PMID:12702499   PMID:12766166   PMID:12865307   PMID:12897139  
PMID:12925636   PMID:14660436   PMID:14672349   PMID:14749725   PMID:14960358   PMID:14973287   PMID:15020244   PMID:15039429   PMID:15102076   PMID:15173106   PMID:15186723   PMID:15231748  
PMID:15388638   PMID:15451575   PMID:15489334   PMID:15516325   PMID:15516492   PMID:15591037   PMID:15671031   PMID:15775969   PMID:15777683   PMID:15861517   PMID:16126463   PMID:16195406  
PMID:16341674   PMID:16373339   PMID:16514669   PMID:16542506   PMID:16604073   PMID:16604289   PMID:16719933   PMID:16769910   PMID:16816361   PMID:16916928   PMID:17003113   PMID:17003840  
PMID:17015616   PMID:17118062   PMID:17151667   PMID:17189614   PMID:17207965   PMID:17244894   PMID:17253944   PMID:17255107   PMID:17262821   PMID:17272306   PMID:17275810   PMID:17325163  
PMID:17343268   PMID:17350185   PMID:17425602   PMID:17429723   PMID:17472960   PMID:17516553   PMID:17556598   PMID:17600318   PMID:17624341   PMID:17640799   PMID:17696196   PMID:17708801  
PMID:17720811   PMID:17785623   PMID:17847004   PMID:17850284   PMID:17850776   PMID:17967130   PMID:17989347   PMID:17992660   PMID:18029192   PMID:18076106   PMID:18252212   PMID:18292231  
PMID:18305125   PMID:18317771   PMID:18319260   PMID:18326817   PMID:18339631   PMID:18365875   PMID:18369157   PMID:18385288   PMID:18400943   PMID:18436533   PMID:18437684   PMID:18537141  
PMID:18548003   PMID:18551993   PMID:18587495   PMID:18596037   PMID:18632632   PMID:18643848   PMID:18664625   PMID:18683889   PMID:18720384   PMID:18775317   PMID:18787191   PMID:18818419  
PMID:18823971   PMID:19011631   PMID:19213939   PMID:19240369   PMID:19249007   PMID:19269967   PMID:19321257   PMID:19407504   PMID:19450561   PMID:19453261   PMID:19473100   PMID:19488929  
PMID:19661459   PMID:19685083   PMID:19759357   PMID:19763374   PMID:19799789   PMID:19814781   PMID:19816200   PMID:19819988   PMID:19839778   PMID:19913121   PMID:19914800   PMID:19915575  
PMID:19923894   PMID:19950207   PMID:20001220   PMID:20023658   PMID:20054823   PMID:20057906   PMID:20144598   PMID:20157553   PMID:20182795   PMID:20301552   PMID:20437058   PMID:20480203  
PMID:20486775   PMID:20505824   PMID:20506112   PMID:20546278   PMID:20559569   PMID:20573231   PMID:20573232   PMID:20619754   PMID:20628086   PMID:20628624   PMID:20634891   PMID:20659471  
PMID:20668459   PMID:20672350   PMID:20682677   PMID:20702560   PMID:20705941   PMID:20730570   PMID:20734064   PMID:20844743   PMID:20858598   PMID:20860622   PMID:20931521   PMID:20949628  
PMID:21050181   PMID:21054789   PMID:21072679   PMID:21092609   PMID:21128211   PMID:21149635   PMID:21152263   PMID:21186333   PMID:21228692   PMID:21340693   PMID:21362572   PMID:21456062  
PMID:21565626   PMID:21655089   PMID:21670081   PMID:21673106   PMID:21674241   PMID:21704030   PMID:21855631   PMID:21868759   PMID:21873635   PMID:22019704   PMID:22052794   PMID:22064324  
PMID:22076569   PMID:22103619   PMID:22105615   PMID:22118688   PMID:22158048   PMID:22158624   PMID:22167620   PMID:22170598   PMID:22191848   PMID:22209843   PMID:22210872   PMID:22241220  
PMID:22350792   PMID:22383492   PMID:22396540   PMID:22447857   PMID:22504665   PMID:22514733   PMID:22529382   PMID:22535375   PMID:22546285   PMID:22610502   PMID:22641693   PMID:22698853  
PMID:22700770   PMID:22736943   PMID:22886282   PMID:22899288   PMID:22971142   PMID:22988237   PMID:23010644   PMID:23161572   PMID:23208015   PMID:23232839   PMID:23243277   PMID:23259602  
PMID:23386650   PMID:23388637   PMID:23454123   PMID:23468018   PMID:23493551   PMID:23590708   PMID:23610558   PMID:23643939   PMID:23651239   PMID:23652531   PMID:23673366   PMID:23702483  
PMID:23704328   PMID:23841782   PMID:23899883   PMID:23937428   PMID:23939983   PMID:23941573   PMID:23993924   PMID:24013228   PMID:24044460   PMID:24072698   PMID:24099560   PMID:24100446  
PMID:24245787   PMID:24284793   PMID:24311462   PMID:24350253   PMID:24375867   PMID:24398041   PMID:24400095   PMID:24460721   PMID:24477565   PMID:24532425   PMID:24559233   PMID:24661680  
PMID:24727450   PMID:24736806   PMID:24779016   PMID:24782191   PMID:24814649   PMID:24906886   PMID:24923741   PMID:24932582   PMID:25203114   PMID:25224959   PMID:25303326   PMID:25378054  
PMID:25461595   PMID:25471993   PMID:25511584   PMID:25542234   PMID:25591903   PMID:25605802   PMID:25647270   PMID:25648829   PMID:25706534   PMID:25753650   PMID:25824146   PMID:25977194  
PMID:26103914   PMID:26173116   PMID:26215597   PMID:26304754   PMID:26339396   PMID:26386860   PMID:26406943   PMID:26426615   PMID:26676745   PMID:26684238   PMID:26748560   PMID:26769046  
PMID:26786210   PMID:26970275   PMID:26976638   PMID:27051019   PMID:27191723   PMID:27304915   PMID:27479530   PMID:27498006   PMID:27522322   PMID:27524617   PMID:27586653   PMID:27591802  
PMID:27601729   PMID:27652695   PMID:27684187   PMID:27693253   PMID:27780042   PMID:27875556   PMID:27931264   PMID:28124060   PMID:28126904   PMID:28133786   PMID:28214211   PMID:28238166  
PMID:28315766   PMID:28376475   PMID:28376799   PMID:28425843   PMID:28470822   PMID:28514442   PMID:28543546   PMID:28558098   PMID:28574846   PMID:28605143   PMID:28611046   PMID:28640846  
PMID:28747434   PMID:28755278   PMID:28767592   PMID:28852126   PMID:28928159   PMID:28987388   PMID:29211286   PMID:29229885   PMID:29390526   PMID:29441462   PMID:29478896   PMID:29562958  
PMID:29692399   PMID:29754383   PMID:29860186   PMID:30079292   PMID:30125619   PMID:30158634   PMID:30161001   PMID:30262802   PMID:30372558   PMID:30446454   PMID:30479059   PMID:30568244  
PMID:30628543   PMID:30705127   PMID:30721670   PMID:30829572   PMID:30844730   PMID:30941514   PMID:31065945   PMID:31088707   PMID:31128441   PMID:31189077   PMID:31239243   PMID:31298330  
PMID:31337120   PMID:31363885   PMID:31464646   PMID:31504243   PMID:31613879   PMID:31730904   PMID:31909686   PMID:31941699   PMID:31956269   PMID:31962011   PMID:32001529   PMID:32234828  
PMID:32316263   PMID:32323744   PMID:32376787   PMID:32379989   PMID:32450526   PMID:32603880   PMID:32750404   PMID:32814763   PMID:32992577   PMID:33245975   PMID:33521930   PMID:33529912  
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