ITSN1 Chromosome 21
Intersectin 1
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What This Gene Does
The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs|C2 domain containing|EF-hand domain containing"
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000205726
Associated Conditions (4)
Autistic behavior
Neurodevelopmental disorder
Generalized-onset seizure
Inborn genetic diseases
Key Variants
RS2148264796
Conflicting classifications of pathogenicity
Autistic behavior, Autistic behavior
Health Risk
RS2517248105
Likely pathogenic
Health Risk
RS2518087570
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2518153097
Likely pathogenic
Generalized-onset seizure, Generalized-onset seizure
Health Risk
RS2518546478
Likely pathogenic
Health Risk
RS755276554
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1421202562
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2517016417
Pathogenic
Autistic behavior, Autistic behavior
Health Risk
RS1400666294
Pathogenic/Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2517725319
Pathogenic/Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148264796 | Health Risk | Conflicting classifications of pathogenicity | Autistic behavior, Autistic behavior |
| RS2517248105 | Health Risk | Likely pathogenic | — |
| RS2518087570 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2518153097 | Health Risk | Likely pathogenic | Generalized-onset seizure, Generalized-onset seizure |
| RS2518546478 | Health Risk | Likely pathogenic | — |
| RS755276554 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1421202562 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2517016417 | Health Risk | Pathogenic | Autistic behavior, Autistic behavior |
| RS1400666294 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2517725319 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |