STAMBP Chromosome 2
STAM binding protein
Upload your DNA to see your personal genotypes for variants in STAMBP.
What This Gene Does
Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
JAMM/MPN+ metallopeptidase family
Locus Type
gene with protein product
Location
2p13.1
Ensembl
ENSG00000124356
Associated Conditions (4)
Microcephaly-capillary malformation syndrome
Inborn genetic diseases
STAMBP-related disorder
Ovarian serous cystadenocarcinoma
Key Variants
RS140651555
Conflicting classifications of pathogenicity
Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
Health Risk
RS141557634
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146601260
Conflicting classifications of pathogenicity
Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
Health Risk
RS192721019
Conflicting classifications of pathogenicity
Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
Health Risk
RS535383459
Conflicting classifications of pathogenicity
Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
Health Risk
RS751872971
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781694797
Conflicting classifications of pathogenicity
Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
Health Risk
RS1064796803
Likely pathogenic
Health Risk
RS1174684647
Likely pathogenic
Health Risk
RS150593655
Likely pathogenic
STAMBP-related disorder, STAMBP-related disorder
Health Risk
RS2466756415
Likely pathogenic
Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
Health Risk
RS397509387
Likely pathogenic
Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140651555 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS141557634 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146601260 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS192721019 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS535383459 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS751872971 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781694797 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS1064796803 | Health Risk | Likely pathogenic | — |
| RS1174684647 | Health Risk | Likely pathogenic | — |
| RS150593655 | Health Risk | Likely pathogenic | STAMBP-related disorder, STAMBP-related disorder |
| RS2466756415 | Health Risk | Likely pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS397509387 | Health Risk | Likely pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS774472719 | Health Risk | Likely pathogenic | — |
| RS776345834 | Health Risk | Likely pathogenic | — |
| RS797046015 | Health Risk | Likely pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS1553381934 | Health Risk | Pathogenic | — |
| RS1553382055 | Health Risk | Pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS202100019 | Health Risk | Pathogenic | — |
| RS2466263741 | Health Risk | Pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS2466593252 | Health Risk | Pathogenic | — |
| RS373680226 | Health Risk | Pathogenic | — |
| RS397514697 | Health Risk | Pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS766118409 | Health Risk | Pathogenic | — |
| RS766580482 | Health Risk | Pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS771150854 | Health Risk | Pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS886037633 | Health Risk | Pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS886043494 | Health Risk | Pathogenic | — |
| RS1401253918 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS143739249 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS397509388 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |
| RS397509389 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-capillary malformation syndrome, Ovarian serous cystadenocarcinoma, Microcephaly-capillary malformation syndrome |
| RS397509390 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome |