BMPR1A (bone morphogenetic protein receptor type 1A)

2003-02-01  

Identity

HGNC
LOCATION
10q23.2
LOCUSID
ALIAS
10q23del,ACVRLK3,ALK3,CD292,SKR5
FUSION GENES

Other Information

Locus ID:

NCBI: 657
MIM: 601299
HGNC: 1076
Ensembl: ENSG00000107779

Variants:

dbSNP: 657
ClinVar: 657
TCGA: ENSG00000107779
COSMIC: BMPR1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107779ENST00000372037P36894
ENSG00000107779ENST00000480152A0A087X0P8
ENSG00000107779ENST00000635816P36894
ENSG00000107779ENST00000636056P36894
ENSG00000107779ENST00000638429P36894

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
TGF-beta signaling pathwayKEGGko04350
Cytokine-cytokine receptor interactionKEGGhsa04060
TGF-beta signaling pathwayKEGGhsa04350
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
BMP signalingKEGGhsa_M00679
BMP signalingKEGGM00679
Signal TransductionREACTOMER-HSA-162582
Signaling by BMPREACTOMER-HSA-201451
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
227101742012Promiscuity and specificity in BMP receptor activation.94
166723632006Structure of the ternary signaling complex of a TGF-beta superfamily member.84
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
152350192004The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.68
115360762001Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.57
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
124175132002Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.37
181786122008Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.37
159403692005Fibrodysplasia ossificans progressiva (FOP), a disorder of ectopic osteogenesis, misregulates cell surface expression and trafficking of BMPRIA.36
121362442002Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.35

Citation

Dessen P

BMPR1A (bone morphogenetic protein receptor type 1A)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/816/bmpr1a-(bone-morphogenetic-protein-receptor-type-1a)