SH2B1 Chromosome 16
SH2B adaptor protein 1
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What This Gene Does
This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Pleckstrin homology domain containing|SH2 domain containing"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000178188
Associated Conditions (5)
SH2B1-related disorder
Premature ovarian failure
Distal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Lung cancer
Key Variants
RS1050082155
Conflicting classifications of pathogenicity
SH2B1-related disorder, SH2B1-related disorder
Health Risk
RS115698674
Conflicting classifications of pathogenicity
SH2B1-related disorder, SH2B1-related disorder
Health Risk
RS142515048
Conflicting classifications of pathogenicity
Premature ovarian failure, Distal 16p11.2 microdeletion syndrome, SH2B1-related disorder
Health Risk
RS144126859
Conflicting classifications of pathogenicity
Health Risk
RS149091795
Conflicting classifications of pathogenicity
SH2B1-related disorder, SH2B1-related disorder
Health Risk
RS2152178267
Conflicting classifications of pathogenicity
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Health Risk
RS367969323
Conflicting classifications of pathogenicity
Lung cancer, Lung cancer
Health Risk
RS769421511
Conflicting classifications of pathogenicity
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1050082155 | Health Risk | Conflicting classifications of pathogenicity | SH2B1-related disorder, SH2B1-related disorder |
| RS115698674 | Health Risk | Conflicting classifications of pathogenicity | SH2B1-related disorder, SH2B1-related disorder |
| RS142515048 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure, Distal 16p11.2 microdeletion syndrome, SH2B1-related disorder |
| RS144126859 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149091795 | Health Risk | Conflicting classifications of pathogenicity | SH2B1-related disorder, SH2B1-related disorder |
| RS2152178267 | Health Risk | Conflicting classifications of pathogenicity | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency |
| RS367969323 | Health Risk | Conflicting classifications of pathogenicity | Lung cancer, Lung cancer |
| RS769421511 | Health Risk | Conflicting classifications of pathogenicity | — |