RAP1B Chromosome 12
RAP1B, member of RAS oncogene family
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What This Gene Does
This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
RAS type GTPase family
Locus Type
gene with protein product
Location
12q15
Ensembl
ENSG00000127314
Associated Conditions (3)
See cases
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
Squamous cell carcinoma of the skin
Key Variants
RS2135963070
Likely pathogenic
See cases, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, See cases
Health Risk
RS2499133668
Pathogenic
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Squamous cell carcinoma of the skin
Health Risk
RS2499143529
Pathogenic
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135963070 | Health Risk | Likely pathogenic | See cases, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, See cases |
| RS2499133668 | Health Risk | Pathogenic | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Squamous cell carcinoma of the skin |
| RS2499143529 | Health Risk | Pathogenic | Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies |