BMPR1A Chromosome 10
Bone morphogenetic protein receptor type 1A
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What This Gene Does
The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Type 1 receptor serine/threonine kinases|CD molecules"
Locus Type
gene with protein product
Location
10q23.2
Ensembl
ENSG00000107779
Associated Conditions (26)
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Polyposis syndrome
hereditary mixed
2
Generalized juvenile polyposis/juvenile polyposis coli
Pulmonary arterial hypertension
BMPR1A-related disorder
Gastrointestinal polyposis
Malignant tumor of breast
Glioma susceptibility 1
Uterine corpus endometrial carcinoma
Ovarian cancer
Carcinoma of colon
Pulmonary arterial hypertension associated with congenital heart disease
BMPR1A-related juvenile polyposis syndrome
Idiopathic and/or familial pulmonary arterial hypertension
B lymphoblastic leukemia lymphoma with t(12
21)(p13
q22)
+6 more conditions
Key Variants
RS1043850286
Conflicting classifications of pathogenicity
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Polyposis syndrome
Health Risk
RS1047677696
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1053423400
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Polyposis syndrome
Health Risk
RS1057517581
Conflicting classifications of pathogenicity
Juvenile polyposis syndrome, Juvenile polyposis syndrome
Health Risk
RS1057520966
Conflicting classifications of pathogenicity
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
Health Risk
RS1060503393
Conflicting classifications of pathogenicity
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
Health Risk
RS1060503396
Conflicting classifications of pathogenicity
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Polyposis syndrome
Health Risk
RS1060503407
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Polyposis syndrome
Health Risk
RS1060503410
Conflicting classifications of pathogenicity
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Polyposis syndrome
Health Risk
RS1060503411
Conflicting classifications of pathogenicity
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
Health Risk
RS1060504901
Conflicting classifications of pathogenicity
Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli
Health Risk
RS1060504902
Conflicting classifications of pathogenicity
Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
Health Risk
All Variants (400)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554891331 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1554891570 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1554891649 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1564673999 | Health Risk | Pathogenic | Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli |
| RS1564714804 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1564714809 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1564717692 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1564721929 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1564722014 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS1564723486 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1564724278 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1564725052 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1564725603 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Polyposis syndrome, hereditary mixed |
| RS1589290773 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1589290779 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1589291527 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1589291548 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS1589291774 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1589292655 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1589763343 | Health Risk | Pathogenic | Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli |
| RS1589763393 | Health Risk | Pathogenic | Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli |
| RS1589763427 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1589764273 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1589768027 | Health Risk | Pathogenic | — |
| RS1843286694 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1843501165 | Health Risk | Pathogenic | — |
| RS1843504014 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1843621548 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1843623596 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1843627734 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1843628465 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1843628914 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1843664505 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS1843664957 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1843697382 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS199476084 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS199476085 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome |
| RS199476088 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133394533 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133395056 | Health Risk | Pathogenic | Polyposis syndrome, hereditary mixed, 2 |
| RS2133395477 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133453431 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS2133453577 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133454296 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome |
| RS2133457292 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133458164 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133577022 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133577213 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133589910 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2133591810 | Health Risk | Pathogenic | Juvenile polyposis syndrome, Juvenile polyposis syndrome |