ITSN2 Chromosome 2
Intersectin 2
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What This Gene Does
This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
"Dbl family Rho GEFs|C2 domain containing|EF-hand domain containing"
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000198399
Associated Conditions (1)
ITSN2-related disorder
Key Variants
RS148952288
Conflicting classifications of pathogenicity
Health Risk
RS150905984
Conflicting classifications of pathogenicity
ITSN2-related disorder, ITSN2-related disorder
Health Risk
RS199820366
Conflicting classifications of pathogenicity
Health Risk
RS201295238
Conflicting classifications of pathogenicity
ITSN2-related disorder, ITSN2-related disorder
Health Risk
RS41281487
Conflicting classifications of pathogenicity
ITSN2-related disorder, ITSN2-related disorder
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148952288 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150905984 | Health Risk | Conflicting classifications of pathogenicity | ITSN2-related disorder, ITSN2-related disorder |
| RS199820366 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201295238 | Health Risk | Conflicting classifications of pathogenicity | ITSN2-related disorder, ITSN2-related disorder |
| RS41281487 | Health Risk | Conflicting classifications of pathogenicity | ITSN2-related disorder, ITSN2-related disorder |