BMP2 (bone morphogenetic protein 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: BMP2 (bone morphogenetic protein 2) Homo sapiens
Analyze
Symbol: BMP2
Name: bone morphogenetic protein 2
RGD ID: 733110
HGNC Page HGNC
Description: Exhibits several functions, including BMP receptor binding activity; co-receptor binding activity; and phosphatase activator activity. Involved in several processes, including animal organ development; regulation of signal transduction; and transmembrane receptor protein serine/threonine kinase signaling pathway. Localizes to several cellular components, including BMP receptor complex; cell surface; and extracellular space. Implicated in bone disease (multiple); hemochromatosis type 1; otosclerosis; prostate cancer; and tooth agenesis. Biomarker of prostate cancer and prostate carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BDA2; BMP-2A; BMP2A; bone morphogenetic protein 2A; SSFSC; SSFSC1
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 Ensembl206,767,686 - 6,780,246 (+)EnsemblGRCh38hg38GRCh38
GRCh38206,767,686 - 6,780,246 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37206,748,333 - 6,760,893 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36206,696,745 - 6,708,910 (+)NCBINCBI36hg18NCBI36
Build 34206,697,206 - 6,707,769NCBI
Celera206,819,903 - 6,832,070 (+)NCBI
Cytogenetic Map20p12.3NCBI
HuRef206,705,637 - 6,717,811 (+)NCBIHuRef
CHM1_1206,748,804 - 6,760,987 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(20S)-ginsenoside Rg3  (ISO)
(R)-adrenaline  (ISO)
(R)-mevalonic acid  (EXP,ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (ISO)
2-trans,6-trans-farnesyl diphosphate  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-methoxypsoralen  (ISO)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (ISO)
atorvastatin calcium  (EXP)
aucubin  (EXP)
azadirachtin A  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzoates  (EXP)
beta-D-glucosamine  (ISO)
bexarotene  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bleomycin A5  (EXP)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
Calcimycin  (EXP)
calciol  (EXP,ISO)
calcitriol  (EXP,ISO)
carbon nanotube  (EXP)
cerivastatin  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
corticosterone  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dichromium trioxide  (EXP)
dioxygen  (ISO)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
farnesyl diphosphate  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP,ISO)
furan  (ISO)
gadolinium trichloride  (ISO)
gamma-aminobutyric acid  (ISO)
genistein  (EXP,ISO)
ginsenoside Rb1  (ISO)
glucose  (EXP)
glycerol 2-phosphate  (EXP,ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
glyphosate  (ISO)
hesperidin  (ISO)
icariin  (EXP,ISO)
imperatorin  (ISO)
kaempferol  (ISO)
ketoconazole  (EXP)
L-ascorbic acid  (ISO)
L-ascorbic acid 2-phosphate  (EXP)
lead diacetate  (EXP,ISO)
letrozole  (ISO)
lipopolysaccharide  (EXP,ISO)
losartan  (ISO)
LY294002  (ISO)
maneb  (ISO)
menaquinone  (ISO)
menatetrenone  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mevastatin  (EXP)
mitomycin C  (ISO)
N-(1,3-benzodioxol-5-ylmethyl)-2,6-dichlorobenzamide  (ISO)
N-acetyl-1,4-benzoquinone imine  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (ISO)
naringin  (ISO)
nickel atom  (ISO)
nickel sulfate  (ISO)
octreotide  (EXP)
oxaliplatin  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pasireotide  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phylloquinone  (ISO)
pirinixic acid  (EXP)
progesterone  (EXP,ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
ranitidine  (ISO)
Rebamipide  (ISO)
resveratrol  (EXP,ISO)
Salidroside  (ISO)
SB 203580  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (EXP,ISO)
sirolimus  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP,ISO)
Tanshinone I  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (EXP)
topotecan  (ISO)
trichostatin A  (EXP,ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
vincristine  (EXP)
vorinostat  (EXP)
warfarin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of MAPK activity  (IDA)
animal organ morphogenesis  (ISO,ISS)
aortic valve development  (ISS)
atrioventricular canal morphogenesis  (ISS)
atrioventricular valve morphogenesis  (ISO,ISS)
BMP signaling pathway  (IBA,IDA,IEP,IGI,IMP,ISO,ISS,TAS)
BMP signaling pathway involved in heart development  (ISS)
BMP signaling pathway involved in heart induction  (IDA)
bone development  (ISO)
bone mineralization  (ISO,ISS)
bone mineralization involved in bone maturation  (IDA)
branching involved in ureteric bud morphogenesis  (ISO,ISS)
cardiac atrium formation  (ISS)
cardiac epithelial to mesenchymal transition  (IDA)
cardiac jelly development  (ISS)
cardiac muscle cell differentiation  (IMP)
cardiac muscle tissue morphogenesis  (ISO,ISS)
cardiocyte differentiation  (IMP)
cell fate commitment  (ISO,ISS)
cell-cell signaling  (TAS)
cellular response to BMP stimulus  (IDA,IMP,ISO)
cellular response to growth factor stimulus  (ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to organic cyclic compound  (IEA,ISO)
chondrocyte differentiation  (IDA)
corticotropin hormone secreting cell differentiation  (ISO,ISS)
embryonic heart tube anterior/posterior pattern specification  (ISO,ISS)
endocardial cushion formation  (ISS)
endocardial cushion morphogenesis  (ISO,ISS)
epithelial to mesenchymal transition  (IDA,ISS)
heart development  (ISO,ISS)
in utero embryonic development  (ISO,ISS)
inflammatory response  (ISO,ISS)
inner ear development  (ISO,ISS)
mesenchymal cell differentiation  (IDA)
mesenchymal cell proliferation involved in ureteric bud development  (ISS)
mesenchyme development  (IMP)
negative regulation of aldosterone biosynthetic process  (IDA)
negative regulation of BMP signaling pathway  (TAS)
negative regulation of calcium-independent cell-cell adhesion  (IDA)
negative regulation of canonical Wnt signaling pathway  (IEP)
negative regulation of cardiac muscle cell differentiation  (IDA)
negative regulation of cell cycle  (IDA)
negative regulation of cell population proliferation  (IDA,ISO)
negative regulation of cortisol biosynthetic process  (IDA)
negative regulation of gene expression  (IDA,ISO)
negative regulation of insulin-like growth factor receptor signaling pathway  (IDA)
negative regulation of muscle cell differentiation  (ISO)
negative regulation of steroid biosynthetic process  (IDA)
negative regulation of transcription by RNA polymerase II  (IBA,IDA,ISO)
negative regulation of transcription, DNA-templated  (IDA)
negative regulation of Wnt signaling pathway involved in heart development  (IDA)
Notch signaling pathway  (ISO,ISS)
odontogenesis of dentin-containing tooth  (ISO,ISS)
osteoblast differentiation  (IEA,ISO)
ovulation cycle  (ISO)
pathway-restricted SMAD protein phosphorylation  (IDA)
pericardium development  (ISO,ISS)
positive regulation of astrocyte differentiation  (ISO,ISS)
positive regulation of bone mineralization  (IDA)
positive regulation of cartilage development  (IEA,ISO)
positive regulation of cell differentiation  (ISO)
positive regulation of cell migration  (ISS)
positive regulation of endothelial cell proliferation  (IDA)
positive regulation of epithelial to mesenchymal transition  (IDA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IDA,IMP)
positive regulation of extracellular matrix constituent secretion  (ISS)
positive regulation of fat cell differentiation  (ISO,ISS)
positive regulation of gene expression  (IDA,IGI,ISO,ISS)
positive regulation of MAPK cascade  (IDA)
positive regulation of neurogenesis  (ISO)
positive regulation of neuron differentiation  (ISO,ISS)
positive regulation of odontogenesis  (ISO,ISS)
positive regulation of ossification  (ISO)
positive regulation of osteoblast differentiation  (IDA,ISO)
positive regulation of osteoblast proliferation  (ISS)
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  (IEA)
positive regulation of protein binding  (IDA)
positive regulation of protein phosphorylation  (IDA)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,ISO)
positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus  (IDA)
positive regulation of transcription, DNA-templated  (IDA)
positive regulation of Wnt signaling pathway  (ISO,ISS)
positive regulation of Wnt signaling pathway by BMP signaling pathway  (ISO,ISS)
protein destabilization  (IEA,ISO)
protein phosphorylation  (IDA)
proteoglycan metabolic process  (IEA,ISO)
regulation of odontogenesis of dentin-containing tooth  (IEA,ISO)
regulation of transcription, DNA-templated  (IDA)
response to bacterium  (IEA,ISO)
response to hypoxia  (ISO,ISS)
response to mechanical stimulus  (ISO)
response to retinoic acid  (ISO)
sequestering of BMP from receptor via BMP binding  (TAS)
skeletal system development  (TAS)
SMAD protein signal transduction  (IBA,IDA)
telencephalon regionalization  (ISO,ISS)
thyroid-stimulating hormone-secreting cell differentiation  (ISO,ISS)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
11 pairs of ribs  (IAGP)
2-3 toe syndactyly  (IAGP)
Abdominal pain  (IAGP)
Alopecia  (IAGP)
Amenorrhea  (IAGP)
Anterior open-bite malocclusion  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger  (IAGP)
Aplasia/Hypoplasia of the middle phalanx of the 5th finger  (IAGP)
Arrhythmia  (IAGP)
Arthropathy  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Broad hallux phalanx  (IAGP)
Broad thumb  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Cirrhosis  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes mellitus  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated hepatic transaminase  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Full cheeks  (IAGP)
Global developmental delay  (IAGP)
Glucose intolerance  (IAGP)
Hallux valgus  (IAGP)
Hearing impairment  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertelorism  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypotonia  (IAGP)
Impotence  (IAGP)
Increased circulating ferritin concentration  (IAGP)
Increased serum iron  (IAGP)
Infantile muscular hypotonia  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Medially deviated second toe  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Narrow forehead  (IAGP)
Narrow mouth  (IAGP)
Obstructive sleep apnea  (IAGP)
Osteoporosis  (IAGP)
Paroxysmal supraventricular tachycardia  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Perimembranous ventricular septal defect  (IAGP)
Pierre-Robin sequence  (IAGP)
Pleural effusion  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent sternum  (IAGP)
Pulmonic stenosis  (IAGP)
Radial deviation of the 2nd finger  (IAGP)
Sandal gap  (IAGP)
Seizure  (IAGP)
Short 2nd finger  (IAGP)
Short 2nd metacarpal  (IAGP)
Short 5th metacarpal  (IAGP)
Short foot  (IAGP)
Short hallux  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Spina bifida occulta  (IAGP)
Splenomegaly  (IAGP)
Spondylolisthesis  (IAGP)
Synophrys  (IAGP)
Telangiectasia  (IAGP)
Testicular atrophy  (IAGP)
Thickened helices  (IAGP)
Thin upper lip vermilion  (IAGP)
Toenail dysplasia  (IAGP)
Transposition of the great arteries  (IAGP)
Triangular shaped middle phalanx of the 2nd finger  (IAGP)
Triangular shaped middle phalanx of the 5th finger  (IAGP)
Type A2 brachydactyly  (IAGP)
Ulnar deviation of the 2nd finger  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)
References

Additional References at PubMed
PMID:1487246   PMID:2004778   PMID:2315314   PMID:2376592   PMID:3201241   PMID:7791754   PMID:7811286   PMID:8006002   PMID:8413626   PMID:8653785   PMID:8752214   PMID:8889548  
PMID:9187146   PMID:9197246   PMID:9213002   PMID:9493905   PMID:9693150   PMID:9872992   PMID:10074410   PMID:10085302   PMID:10196167   PMID:10220513   PMID:10657699   PMID:10692589  
PMID:10704850   PMID:10712517   PMID:10880444   PMID:10881198   PMID:11180925   PMID:11263668   PMID:11456401   PMID:11497252   PMID:11502704   PMID:11642720   PMID:11718007   PMID:11741887  
PMID:11748585   PMID:11780052   PMID:11792561   PMID:11811554   PMID:11837817   PMID:11854297   PMID:11953135   PMID:11968014   PMID:12002771   PMID:12052447   PMID:12082094   PMID:12126644  
PMID:12168799   PMID:12210753   PMID:12477932   PMID:12489168   PMID:12527559   PMID:12531697   PMID:12535648   PMID:12620973   PMID:12740218   PMID:12819188   PMID:12854828   PMID:12856332  
PMID:12872164   PMID:12897139   PMID:12919699   PMID:12925611   PMID:12933820   PMID:13678785   PMID:14499589   PMID:14558086   PMID:14587031   PMID:14623234   PMID:14660436   PMID:14691541  
PMID:14699493   PMID:15020244   PMID:15037653   PMID:15039429   PMID:15064755   PMID:15102076   PMID:15110716   PMID:15150273   PMID:15240857   PMID:15254224   PMID:15322112   PMID:15358784  
PMID:15592496   PMID:15621726   PMID:15641068   PMID:15647827   PMID:15647840   PMID:15671031   PMID:15851600   PMID:15857508   PMID:15861517   PMID:16000303   PMID:16049014   PMID:16126463  
PMID:16150699   PMID:16157126   PMID:16194878   PMID:16243309   PMID:16247476   PMID:16261446   PMID:16326713   PMID:16391828   PMID:16432645   PMID:16433617   PMID:16442268   PMID:16453284  
PMID:16598384   PMID:16604073   PMID:16604289   PMID:16613856   PMID:16615932   PMID:16621789   PMID:16637042   PMID:16672363   PMID:16719933   PMID:16753015   PMID:16754660   PMID:16771708  
PMID:16815889   PMID:16835229   PMID:16893455   PMID:17003113   PMID:17029022   PMID:17120779   PMID:17138967   PMID:17168321   PMID:17202865   PMID:17240342   PMID:17244894   PMID:17255107  
PMID:17262821   PMID:17356069   PMID:17401695   PMID:17416365   PMID:17437303   PMID:17472960   PMID:17504062   PMID:17518682   PMID:17519894   PMID:17530715   PMID:17549388   PMID:17553463  
PMID:17577985   PMID:17608624   PMID:17617489   PMID:17681894   PMID:17711857   PMID:17726567   PMID:17824831   PMID:17847004   PMID:17919499   PMID:17960657   PMID:17992660   PMID:17997109  
PMID:18029192   PMID:18059017   PMID:18059158   PMID:18070108   PMID:18156628   PMID:18160010   PMID:18160401   PMID:18179800   PMID:18184661   PMID:18287331   PMID:18311072   PMID:18326817  
PMID:18335997   PMID:18339631   PMID:18382765   PMID:18389292   PMID:18391951   PMID:18400943   PMID:18404105   PMID:18426824   PMID:18434375   PMID:18436533   PMID:18465455   PMID:18471510  
PMID:18490653   PMID:18510873   PMID:18512729   PMID:18545679   PMID:18546152   PMID:18586671   PMID:18600473   PMID:18703506   PMID:18720162   PMID:18720410   PMID:18773965   PMID:18812404  
PMID:18818419   PMID:18937504   PMID:18950289   PMID:19018606   PMID:19023570   PMID:19038372   PMID:19058174   PMID:19079261   PMID:19080362   PMID:19098993   PMID:19112539   PMID:19113914  
PMID:19123988   PMID:19139264   PMID:19140318   PMID:19229295   PMID:19231972   PMID:19238726   PMID:19240369   PMID:19266077   PMID:19281856   PMID:19301257   PMID:19324447   PMID:19324883  
PMID:19327734   PMID:19341710   PMID:19375587   PMID:19438813   PMID:19453261   PMID:19473100   PMID:19492344   PMID:19582526   PMID:19584291   PMID:19609629   PMID:19639199   PMID:19653054  
PMID:19655815   PMID:19664780   PMID:19670606   PMID:19693635   PMID:19699244   PMID:19713532   PMID:19736317   PMID:19754224   PMID:19762079   PMID:19782107   PMID:19797419   PMID:19799789  
PMID:19800879   PMID:19804412   PMID:19811499   PMID:19835871   PMID:19857615   PMID:19879168   PMID:19909214   PMID:19913121   PMID:19918795   PMID:19924575   PMID:19953937   PMID:20014079  
PMID:20039267   PMID:20041271   PMID:20060812   PMID:20065295   PMID:20232298   PMID:20237276   PMID:20301613   PMID:20302941   PMID:20304956   PMID:20306291   PMID:20346918   PMID:20348041  
PMID:20424473   PMID:20432245   PMID:20432444   PMID:20505824   PMID:20506112   PMID:20530805   PMID:20537331   PMID:20546278   PMID:20546612   PMID:20548225   PMID:20555025   PMID:20565259  
PMID:20567515   PMID:20576608   PMID:20587070   PMID:20587610   PMID:20628086   PMID:20634891   PMID:20637325   PMID:20651281   PMID:20659471   PMID:20668165   PMID:20670444   PMID:20672350  
PMID:20677014   PMID:20679527   PMID:20682677   PMID:20684029   PMID:20721706   PMID:20730440   PMID:20734064   PMID:20816195   PMID:20818491   PMID:20825377   PMID:20838369   PMID:20843790  
PMID:20848249   PMID:20860622   PMID:20874259   PMID:20881960   PMID:20890042   PMID:20927405   PMID:20939477   PMID:21054789   PMID:21084396   PMID:21096864   PMID:21121067   PMID:21128211  
PMID:21205918   PMID:21212630   PMID:21247344   PMID:21254281   PMID:21277338   PMID:21285872   PMID:21308375   PMID:21308777   PMID:21311046   PMID:21327739   PMID:21347550   PMID:21401418  
PMID:21415150   PMID:21471203   PMID:21570392   PMID:21655089   PMID:21659661   PMID:21660578   PMID:21673630   PMID:21688123   PMID:21688312   PMID:21688537   PMID:21702718   PMID:21720209  
PMID:21755409   PMID:21777514   PMID:21842277   PMID:21873635   PMID:21876344   PMID:21885439   PMID:21907184   PMID:21923031   PMID:21998741   PMID:22102412   PMID:22119392   PMID:22227436  
PMID:22270235   PMID:22310349   PMID:22323359   PMID:22359486   PMID:22366399   PMID:22450430   PMID:22496405   PMID:22540193   PMID:22542719   PMID:22579779   PMID:22583106   PMID:22652428  
PMID:22652796   PMID:22674456   PMID:22705305   PMID:22771956   PMID:22778550   PMID:22791809   PMID:22886971   PMID:22894570   PMID:22958403   PMID:22961954   PMID:22965927   PMID:23010719  
PMID:23017834   PMID:23023810   PMID:23088504   PMID:23122408   PMID:23142810   PMID:23150675   PMID:23160099   PMID:23161572   PMID:23192572   PMID:23239467   PMID:23251661   PMID:23266556  
PMID:23276457   PMID:23313904   PMID:23341458   PMID:23359411   PMID:23360788   PMID:23396134   PMID:23423222   PMID:23429681   PMID:23461810   PMID:23506588   PMID:23528838   PMID:23537995  
PMID:23563607   PMID:23669352   PMID:23708553   PMID:23716395   PMID:23784946   PMID:23790163   PMID:23825642   PMID:23853066   PMID:23900689   PMID:23901942   PMID:23916851   PMID:23918166  
PMID:23977305   PMID:23977328   PMID:24008158   PMID:24060635   PMID:24077220   PMID:24100446   PMID:24144296   PMID:24153173   PMID:24175816   PMID:24205156   PMID:24247005   PMID:24266740  
PMID:24269858   PMID:24288199   PMID:24321094   PMID:24339730   PMID:24387671   PMID:24393182   PMID:24406215   PMID:24409810   PMID:24420717   PMID:24477081   PMID:24477555   PMID:24492129  
PMID:24551211   PMID:24551273   PMID:24561081   PMID:24573607   PMID:24585058   PMID:24601881   PMID:24639043   PMID:24643989   PMID:24682653   PMID:24710560   PMID:24723453   PMID:24737472  
PMID:24737748   PMID:24742993   PMID:24743742   PMID:24764177   PMID:24764222   PMID:24783213   PMID:24804200   PMID:24814649   PMID:24828823   PMID:24885555   PMID:24928442   PMID:24942379  
PMID:24946687   PMID:24954001   PMID:25027287   PMID:25070743   PMID:25099263   PMID:25099618   PMID:25152406   PMID:25191703   PMID:25241761   PMID:25241763   PMID:25301360   PMID:25329960  
PMID:25350918   PMID:25359431   PMID:25378054   PMID:25391427   PMID:25412776   PMID:25429064   PMID:25430711   PMID:25431339   PMID:25562153   PMID:25601208   PMID:25640452   PMID:25644704  
PMID:25656933   PMID:25668064   PMID:25681461   PMID:25698539   PMID:25705677   PMID:25776852   PMID:25797254   PMID:25814267   PMID:25817394   PMID:25837159   PMID:25917422   PMID:25920311  
PMID:25924783   PMID:25938661   PMID:25976471   PMID:25996180   PMID:26003174   PMID:26047580   PMID:26053675   PMID:26124007   PMID:26138030   PMID:26169838   PMID:26177709   PMID:26292283  
PMID:26308798   PMID:26332449   PMID:26400336   PMID:26413886   PMID:26460254   PMID:26466853   PMID:26485046   PMID:26491693   PMID:26494778   PMID:26563344   PMID:26621735   PMID:26636769  
PMID:26645362   PMID:26808122   PMID:26845276   PMID:26868173   PMID:26916040   PMID:26986020   PMID:27025722   PMID:27036124   PMID:27039814   PMID:27040945   PMID:27083447   PMID:27190335  
PMID:27196063   PMID:27230238   PMID:27246988   PMID:27335248   PMID:27339040   PMID:27359105   PMID:27362534   PMID:27379249   PMID:27415426   PMID:27426435   PMID:27510004   PMID:27512956  
PMID:27524626   PMID:27574702   PMID:27581621   PMID:27591802   PMID:27606499   PMID:27650131   PMID:27702654   PMID:27780042   PMID:27784228   PMID:27793899   PMID:27806311   PMID:27829314  
PMID:27832657   PMID:27856281   PMID:27860183   PMID:27865758   PMID:27878265   PMID:27886213   PMID:27905881   PMID:27920253   PMID:27986931   PMID:28035402   PMID:28102712   PMID:28104757  
PMID:28108317   PMID:28124060   PMID:28124978   PMID:28125926   PMID:28126904   PMID:28134597   PMID:28145426   PMID:28260028   PMID:28331138   PMID:28349058   PMID:28377507   PMID:28434979  
PMID:28460577   PMID:28463604   PMID:28489849   PMID:28574846   PMID:28578012   PMID:28583517   PMID:28584056   PMID:28586151   PMID:28601071   PMID:28680881   PMID:28733457   PMID:28747434  
PMID:28797104   PMID:28847606   PMID:28869862   PMID:28951869   PMID:28985029   PMID:29059672   PMID:29129813   PMID:29212377   PMID:29222456   PMID:29253565   PMID:29308559   PMID:29333457  
PMID:29339728   PMID:29386057   PMID:29390526   PMID:29396550   PMID:29416020   PMID:29429984   PMID:29470488   PMID:29574511   PMID:29663368   PMID:29740080   PMID:29745819   PMID:29750899  
PMID:29789683   PMID:29913119   PMID:29938690   PMID:30013089   PMID:30102472   PMID:30107340   PMID:30181118   PMID:30321593   PMID:30341511   PMID:30445268   PMID:30602018   PMID:30604108  
PMID:30699351   PMID:30703347   PMID:30735122   PMID:30773537   PMID:30788762   PMID:30799697   PMID:30865837   PMID:30887565   PMID:30915756   PMID:30991228   PMID:31150531   PMID:31235259  
PMID:31277646   PMID:31298369   PMID:31324879   PMID:31357026   PMID:31413943   PMID:31435635   PMID:31436339   PMID:31551149   PMID:31831776   PMID:31863351   PMID:31894111   PMID:31950029  
PMID:32061704   PMID:32281291   PMID:32290085   PMID:32329818   PMID:32379989   PMID:32498363   PMID:32538572   PMID:32920615   PMID:32929912   PMID:32967078   PMID:33116227   PMID:33130958  
PMID:33245975  


Genomics

Comparative Map Data
BMP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl206,767,686 - 6,780,246 (+)EnsemblGRCh38hg38GRCh38
GRCh38206,767,686 - 6,780,246 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37206,748,333 - 6,760,893 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36206,696,745 - 6,708,910 (+)NCBINCBI36hg18NCBI36
Build 34206,697,206 - 6,707,769NCBI
Celera206,819,903 - 6,832,070 (+)NCBI
Cytogenetic Map20p12.3NCBI
HuRef206,705,637 - 6,717,811 (+)NCBIHuRef
CHM1_1206,748,804 - 6,760,987 (+)NCBICHM1_1
Bmp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392133,394,079 - 133,404,816 (+)NCBIGRCm39mm39
GRCm39 Ensembl2133,394,079 - 133,404,805 (+)Ensembl
GRCm382133,552,159 - 133,562,896 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2133,552,159 - 133,562,885 (+)EnsemblGRCm38mm10GRCm38
MGSCv372133,378,935 - 133,388,621 (+)NCBIGRCm37mm9NCBIm37
MGSCv362133,244,640 - 133,254,326 (+)NCBImm8
Celera2134,774,971 - 134,784,597 (+)NCBICelera
Cytogenetic Map2F2NCBI
cM Map265.21NCBI
Bmp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23120,812,660 - 120,822,579 (+)NCBI
Rnor_6.0 Ensembl3126,335,863 - 126,346,318 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03126,335,963 - 126,346,771 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03132,822,005 - 132,832,789 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43121,372,692 - 121,381,236 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13121,278,264 - 121,286,806 (+)NCBI
Celera3119,596,986 - 119,605,358 (+)NCBICelera
Cytogenetic Map3q36NCBI
Bmp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541517,048,030 - 17,060,181 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541517,048,374 - 17,058,172 (+)NCBIChiLan1.0ChiLan1.0
BMP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1206,546,173 - 6,558,627 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl206,546,173 - 6,558,610 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0206,765,161 - 6,777,728 (+)NCBIMhudiblu_PPA_v0panPan3
BMP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12415,199,667 - 15,211,509 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2415,200,291 - 15,212,217 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2415,022,880 - 15,034,779 (-)NCBI
ROS_Cfam_1.02415,603,929 - 15,615,829 (-)NCBI
UMICH_Zoey_3.12415,210,353 - 15,222,261 (-)NCBI
UNSW_CanFamBas_1.02415,320,936 - 15,332,831 (-)NCBI
UU_Cfam_GSD_1.02415,650,158 - 15,662,056 (-)NCBI
Bmp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640163,997,168 - 164,008,273 (-)NCBI
SpeTri2.0NW_00493648512,428,765 - 12,439,570 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BMP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1715,749,835 - 15,761,215 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11715,750,487 - 15,762,982 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21717,052,609 - 17,064,132 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BMP2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1231,349,394 - 31,361,227 (-)NCBI
ChlSab1.1 Ensembl231,348,808 - 31,360,901 (-)Ensembl
Bmp2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247417,706,205 - 7,717,677 (+)NCBI

Position Markers
D20S892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37206,750,125 - 6,750,333UniSTSGRCh37
Build 36206,698,125 - 6,698,333RGDNCBI36
Celera206,821,283 - 6,821,493RGD
Cytogenetic Map20p12UniSTS
HuRef206,707,017 - 6,707,233UniSTS
Marshfield Genetic Map2018.79RGD
Marshfield Genetic Map2018.79UniSTS
Genethon Genetic Map2018.5UniSTS
deCODE Assembly Map2021.44UniSTS
Whitehead-YAC Contig Map20 UniSTS
RH66075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37206,760,631 - 6,760,774UniSTSGRCh37
Build 36206,708,631 - 6,708,774RGDNCBI36
Celera206,831,791 - 6,831,934RGD
Cytogenetic Map20p12UniSTS
HuRef206,717,532 - 6,717,675UniSTS
GeneMap99-GB4 RH Map2046.1UniSTS
NCBI RH Map2079.8UniSTS
D20S1011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37206,760,721 - 6,760,826UniSTSGRCh37
Build 36206,708,721 - 6,708,826RGDNCBI36
Celera206,831,881 - 6,831,986RGD
Cytogenetic Map20p12UniSTS
HuRef206,717,622 - 6,717,727UniSTS
GeneMap99-GB4 RH Map2044.31UniSTS
NCBI RH Map2079.8UniSTS
GeneMap99-G3 RH Map20321.0UniSTS
BMP2_294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37206,758,947 - 6,759,844UniSTSGRCh37
Build 36206,706,947 - 6,707,844RGDNCBI36
Celera206,830,107 - 6,831,004RGD
HuRef206,715,848 - 6,716,745UniSTS
MARC_41391-41392:1086625030:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37206,758,889 - 6,759,458UniSTSGRCh37
Build 36206,706,889 - 6,707,458RGDNCBI36
Celera206,830,049 - 6,830,618RGD
HuRef206,715,790 - 6,716,359UniSTS
RH71375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37206,759,474 - 6,759,644UniSTSGRCh37
Build 36206,707,474 - 6,707,644RGDNCBI36
Celera206,830,634 - 6,830,804RGD
Cytogenetic Map20p12UniSTS
HuRef206,716,375 - 6,716,545UniSTS
GeneMap99-GB4 RH Map2040.68UniSTS
NCBI RH Map2079.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:492
Count of miRNA genes:266
Interacting mature miRNAs:322
Transcripts:ENST00000378827
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
Medium 741 317 705 72 265 68 1949 126 389 144 181 1286 13 838 927 1
Low 1665 1927 1002 539 635 386 2365 2031 3032 263 1209 298 161 1 366 1852 3 1
Below cutoff 19 704 11 8 820 7 29 38 302 12 58 20 1 9 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA489383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF040249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM670141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ335540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI961649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC294426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF250425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M22489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378827   ⟹   ENSP00000368104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl206,767,686 - 6,780,246 (+)Ensembl
RefSeq Acc Id: NM_001200   ⟹   NP_001191
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,767,686 - 6,780,246 (+)NCBI
GRCh37206,748,745 - 6,760,910 (+)ENTREZGENE
Build 36206,696,745 - 6,708,910 (+)NCBI Archive
HuRef206,705,637 - 6,717,811 (+)ENTREZGENE
CHM1_1206,748,804 - 6,760,987 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001191   ⟸   NM_001200
- Peptide Label: preproprotein
- UniProtKB: P12643 (UniProtKB/Swiss-Prot),   C8C060 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000368104   ⟸   ENST00000378827
Protein Domains
TGF_BETA_2   TGFb_propeptide

Promoters
RGD ID:6798544
Promoter ID:HG_KWN:38539
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000077918
Position:
Human AssemblyChrPosition (strand)Source
Build 36206,696,291 - 6,697,107 (+)MPROMDB
RGD ID:6814415
Promoter ID:HG_MGC:429
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:BC148689
Position:
Human AssemblyChrPosition (strand)Source
Build 36206,698,456 - 6,698,956 (+)MPROMDB
RGD ID:13206343
Promoter ID:EPDNEW_H26753
Type:initiation region
Name:BMP2_1
Description:bone morphogenetic protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38206,767,686 - 6,767,746EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
BMP2, 2.1-KB DUP, +110 KB duplication Brachydactyly type A2 [RCV000022453] Chr20:20p12 pathogenic
NM_001200.4(BMP2):c.79G>T (p.Glu27Ter) single nucleotide variant Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [RCV000584741] Chr20:6770205 [GRCh38]
Chr20:6750852 [GRCh37]
Chr20:20p12.3
pathogenic|likely pathogenic
NM_001200.4(BMP2):c.987C>A (p.Cys329Ter) single nucleotide variant Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [RCV000584742] Chr20:6778885 [GRCh38]
Chr20:6759532 [GRCh37]
Chr20:20p12.3
pathogenic|likely pathogenic
NM_001200.2(BMP2):c.346+1146A>G single nucleotide variant Lung cancer [RCV000101746] Chr20:6771618 [GRCh38]
Chr20:6752265 [GRCh37]
Chr20:20p12.3
uncertain significance
GRCh38/hg38 20p12.3(chr20:6336607-8577546)x1 copy number loss See cases [RCV000050903] Chr20:6336607..8577546 [GRCh38]
Chr20:6317254..8558193 [GRCh37]
Chr20:6265254..8506193 [NCBI36]
Chr20:20p12.3
pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21
pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22
pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1
pathogenic
NM_001200.2(BMP2):c.673G>A (p.Gly225Arg) single nucleotide variant Malignant melanoma [RCV000072765] Chr20:6778571 [GRCh38]
Chr20:6759218 [GRCh37]
Chr20:6707218 [NCBI36]
Chr20:20p12.3
not provided
NM_001200.4(BMP2):c.261A>G (p.Ser87=) single nucleotide variant not specified [RCV000175686] Chr20:6770387 [GRCh38]
Chr20:6751034 [GRCh37]
Chr20:20p12.3
benign
NM_001200.4(BMP2):c.109T>G (p.Ser37Ala) single nucleotide variant not specified [RCV000175687] Chr20:6770235 [GRCh38]
Chr20:6750882 [GRCh37]
Chr20:20p12.3
benign
NM_001200.4(BMP2):c.570A>T (p.Arg190Ser) single nucleotide variant Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [RCV000990280]|not specified [RCV000177127] Chr20:6778468 [GRCh38]
Chr20:6759115 [GRCh37]
Chr20:20p12.3
benign
NM_001200.4(BMP2):c.552G>A (p.Ser184=) single nucleotide variant not provided [RCV000887618]|not specified [RCV000177128] Chr20:6778450 [GRCh38]
Chr20:6759097 [GRCh37]
Chr20:20p12.3
benign|likely benign
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1
pathogenic
GRCh38/hg38 20p12.3-12.1(chr20:6617695-13392559)x1 copy number loss See cases [RCV000135292] Chr20:6617695..13392559 [GRCh38]
Chr20:6598342..13373206 [GRCh37]
Chr20:6546342..13321206 [NCBI36]
Chr20:20p12.3-12.1
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20p13-12.3(chr20:4343033-6911730)x1 copy number loss See cases [RCV000137695] Chr20:4343033..6911730 [GRCh38]
Chr20:4323680..6892377 [GRCh37]
Chr20:4271680..6840377 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p12.3(chr20:6186076-8804328)x3 copy number gain See cases [RCV000138041] Chr20:6186076..8804328 [GRCh38]
Chr20:6166723..8784975 [GRCh37]
Chr20:6114723..8732975 [NCBI36]
Chr20:20p12.3
uncertain significance
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1
pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1
pathogenic
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3
pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1
pathogenic
NM_001200.4(BMP2):c.1161C>T (p.Asp387=) single nucleotide variant not specified [RCV000241929] Chr20:6779059 [GRCh38]
Chr20:6759706 [GRCh37]
Chr20:20p12.3
benign
NM_001200.4(BMP2):c.630C>T (p.Thr210=) single nucleotide variant not specified [RCV000244486] Chr20:6778528 [GRCh38]
Chr20:6759175 [GRCh37]
Chr20:20p12.3
likely benign
NM_001200.4(BMP2):c.275C>T (p.Ser92Leu) single nucleotide variant not provided [RCV000384219] Chr20:6770401 [GRCh38]
Chr20:6751048 [GRCh37]
Chr20:20p12.3
uncertain significance
NM_001200.4(BMP2):c.323C>T (p.Thr108Ile) single nucleotide variant not provided [RCV000368033] Chr20:6770449 [GRCh38]
Chr20:6751096 [GRCh37]
Chr20:20p12.3
uncertain significance
NM_001200.4(BMP2):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000579047] Chr20:6770127 [GRCh38]
Chr20:6750774 [GRCh37]
Chr20:20p12.3
uncertain significance
NM_001200.4(BMP2):c.561C>T (p.Pro187=) single nucleotide variant not provided [RCV000596149] Chr20:6778459 [GRCh38]
Chr20:6759106 [GRCh37]
Chr20:20p12.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001200.4(BMP2):c.953dup (p.Tyr320fs) duplication Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [RCV000584732] Chr20:6778846..6778847 [GRCh38]
Chr20:6759493..6759494 [GRCh37]
Chr20:20p12.3
pathogenic
NM_001200.4(BMP2):c.-7-2_-7-1delinsCC indel Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [RCV000584736] Chr20:6770118..6770119 [GRCh38]
Chr20:6750765..6750766 [GRCh37]
Chr20:20p12.3
pathogenic
NM_001200.4(BMP2):c.200C>G (p.Pro67Arg) single nucleotide variant not provided [RCV000733134] Chr20:6770326 [GRCh38]
Chr20:6750973 [GRCh37]
Chr20:20p12.3
uncertain significance
NM_001200.4(BMP2):c.1041G>A (p.Thr347=) single nucleotide variant not provided [RCV000728896] Chr20:6778939 [GRCh38]
Chr20:6759586 [GRCh37]
Chr20:20p12.3
uncertain significance
NM_001200.4(BMP2):c.891G>A (p.Lys297=) single nucleotide variant not provided [RCV000734007] Chr20:6778789 [GRCh38]
Chr20:6759436 [GRCh37]
Chr20:20p12.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001200.4(BMP2):c.370A>G (p.Thr124Ala) single nucleotide variant not provided [RCV000734745] Chr20:6778268 [GRCh38]
Chr20:6758915 [GRCh37]
Chr20:20p12.3
uncertain significance
GRCh37/hg19 20p13-12.1(chr20:4392930-12667768)x1 copy number loss See cases [RCV000446718] Chr20:4392930..12667768 [GRCh37]
Chr20:20p13-12.1
pathogenic
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) single nucleotide variant Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [RCV000755726]|not provided [RCV000428191] Chr20:6778358 [GRCh38]
Chr20:6759005 [GRCh37]
Chr20:20p12.3
likely pathogenic|uncertain significance
GRCh37/hg19 20p12.3(chr20:6713937-7303989)x1 copy number loss See cases [RCV000445907] Chr20:6713937..7303989 [GRCh37]
Chr20:20p12.3
pathogenic
GRCh37/hg19 20p12.3(chr20:6296284-7092386)x1 copy number loss See cases [RCV000447966] Chr20:6296284..7092386 [GRCh37]
Chr20:20p12.3
likely pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21
pathogenic
NC_000020.11:g.7125642T>C single nucleotide variant Craniosynostosis 7 [RCV000490626] Chr20:7125642 [GRCh38]
Chr20:7106289 [GRCh37]
Chr20:20p12.3
risk factor
GRCh37/hg19 20p12.3(chr20:6143179-8611534)x1 copy number loss See cases [RCV000511512] Chr20:6143179..8611534 [GRCh37]
Chr20:20p12.3
likely pathogenic
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 copy number loss See cases [RCV000511897] Chr20:2463101..8185680 [GRCh37]
Chr20:20p13-12.3
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2
likely pathogenic
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1
pathogenic
NM_001200.4(BMP2):c.178A>C (p.Met60Leu) single nucleotide variant Hearing impairment [RCV000754562] Chr20:6770304 [GRCh38]
Chr20:6750951 [GRCh37]
Chr20:20p12.3
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_001200.4(BMP2):c.393A>T (p.Arg131Ser) single nucleotide variant not provided [RCV000940569] Chr20:6778291 [GRCh38]
Chr20:6758938 [GRCh37]
Chr20:20p12.3
likely benign
NM_001200.4(BMP2):c.43C>T (p.Gln15Ter) single nucleotide variant not provided [RCV000760569] Chr20:6770169 [GRCh38]
Chr20:6750816 [GRCh37]
Chr20:20p12.3
pathogenic
NM_001200.4(BMP2):c.978C>T (p.His326=) single nucleotide variant not provided [RCV000929513] Chr20:6778876 [GRCh38]
Chr20:6759523 [GRCh37]
Chr20:20p12.3
likely benign
NM_001200.4(BMP2):c.633C>T (p.Pro211=) single nucleotide variant not provided [RCV000904259] Chr20:6778531 [GRCh38]
Chr20:6759178 [GRCh37]
Chr20:20p12.3
likely benign
NM_001200.4(BMP2):c.228C>G (p.Pro76=) single nucleotide variant not provided [RCV000919912] Chr20:6770354 [GRCh38]
Chr20:6751001 [GRCh37]
Chr20:20p12.3
likely benign
NM_001200.4(BMP2):c.374G>A (p.Ser125Asn) single nucleotide variant not provided [RCV000972190] Chr20:6778272 [GRCh38]
Chr20:6758919 [GRCh37]
Chr20:20p12.3
likely benign
NC_000020.11:g.(?_6094939)_(6779089_?)del deletion not provided [RCV001031848] Chr20:6075586..6759736 [GRCh37]
Chr20:20p12.3
pathogenic
NM_001200.4(BMP2):c.435C>A (p.Ile145=) single nucleotide variant not provided [RCV000896047] Chr20:6778333 [GRCh38]
Chr20:6758980 [GRCh37]
Chr20:20p12.3
likely benign
NM_001200.4(BMP2):c.1040C>T (p.Thr347Met) single nucleotide variant not provided [RCV000924174] Chr20:6778938 [GRCh38]
Chr20:6759585 [GRCh37]
Chr20:20p12.3
likely benign
NM_001200.4(BMP2):c.921C>T (p.Asp307=) single nucleotide variant not provided [RCV000896770] Chr20:6778819 [GRCh38]
Chr20:6759466 [GRCh37]
Chr20:20p12.3
likely benign
NM_001200.4(BMP2):c.1089G>A (p.Pro363=) single nucleotide variant not provided [RCV000918511] Chr20:6778987 [GRCh38]
Chr20:6759634 [GRCh37]
Chr20:20p12.3
likely benign
NM_001200.4(BMP2):c.508C>T (p.Arg170Ter) single nucleotide variant Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [RCV001007950] Chr20:6778406 [GRCh38]
Chr20:6759053 [GRCh37]
Chr20:20p12.3
pathogenic
GRCh37/hg19 20p12.3(chr20:6237506-7074125)x1 copy number loss not provided [RCV000846574] Chr20:6237506..7074125 [GRCh37]
Chr20:20p12.3
uncertain significance
NM_001200.4(BMP2):c.613_625del (p.Glu205fs) deletion not provided [RCV001091287] Chr20:6778510..6778522 [GRCh38]
Chr20:6759157..6759169 [GRCh37]
Chr20:20p12.3
likely pathogenic
NM_001200.4(BMP2):c.16C>T (p.Arg6Cys) single nucleotide variant Brachydactyly type A2 [RCV001334869]|not provided [RCV001054939] Chr20:6770142 [GRCh38]
Chr20:6750789 [GRCh37]
Chr20:20p12.3
uncertain significance
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1
pathogenic
NM_001200.4(BMP2):c.806A>G (p.His269Arg) single nucleotide variant not provided [RCV001043080] Chr20:6778704 [GRCh38]
Chr20:6759351 [GRCh37]
Chr20:20p12.3
uncertain significance
NC_000020.10:g.(?_6015110)_(6759736_?)del deletion not provided [RCV001032295] Chr20:6015110..6759736 [GRCh37]
Chr20:20p12.3
pathogenic
NM_001200.4(BMP2):c.939G>A (p.Trp313Ter) single nucleotide variant Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies [RCV001027857] Chr20:6778837 [GRCh38]
Chr20:6759484 [GRCh37]
Chr20:20p12.3
likely pathogenic
NM_001200.4(BMP2):c.854A>G (p.Lys285Arg) single nucleotide variant not provided [RCV001200145] Chr20:6778752 [GRCh38]
Chr20:6759399 [GRCh37]
Chr20:20p12.3
uncertain significance
NM_001200.4(BMP2):c.235A>G (p.Met79Val) single nucleotide variant Inborn genetic diseases [RCV001266600] Chr20:6770361 [GRCh38]
Chr20:6751008 [GRCh37]
Chr20:20p12.3
uncertain significance
NM_001200.4(BMP2):c.1190A>C (p.Ter397Ser) single nucleotide variant Inborn genetic diseases [RCV001267270] Chr20:6779088 [GRCh38]
Chr20:6759735 [GRCh37]
Chr20:20p12.3
uncertain significance
NM_001200.4(BMP2):c.482T>C (p.Leu161Ser) single nucleotide variant not provided [RCV001341962] Chr20:6778380 [GRCh38]
Chr20:6759027 [GRCh37]
Chr20:20p12.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1069 AgrOrtholog
COSMIC BMP2 COSMIC
Ensembl Genes ENSG00000125845 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000368104 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000378827 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125845 GTEx
HGNC ID HGNC:1069 ENTREZGENE
Human Proteome Map BMP2 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:650 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 650 ENTREZGENE
OMIM 112261 OMIM
  112600 OMIM
  235200 OMIM
  617877 OMIM
PANTHER PTHR11848 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFb_propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25379 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 BMP2_HUMAN UniProtKB/Swiss-Prot
  C8C060 ENTREZGENE, UniProtKB/TrEMBL
  C8C061_HUMAN UniProtKB/TrEMBL
  C8C063_HUMAN UniProtKB/TrEMBL
  C8C064_HUMAN UniProtKB/TrEMBL
  C8C065_HUMAN UniProtKB/TrEMBL
  C8C066_HUMAN UniProtKB/TrEMBL
  C8C068_HUMAN UniProtKB/TrEMBL
  C8C069_HUMAN UniProtKB/TrEMBL
  C8C071_HUMAN UniProtKB/TrEMBL
  P12643 ENTREZGENE
  U3N491_HUMAN UniProtKB/TrEMBL