ITCH Chromosome 20
Itchy E3 ubiquitin protein ligase
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What This Gene Does
This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"C2 domain containing|MicroRNA protein coding host genes|Nedd4 family E3 ubiquitin protein ligases"
Locus Type
gene with protein product
Location
20q11.22
Ensembl
ENSG00000078747
Associated Conditions (5)
Syndromic multisystem autoimmune disease due to ITCH deficiency
ITCH-related disorder
Inborn genetic diseases
Colorectal cancer
Familial cancer of breast
Key Variants
RS147636046
Conflicting classifications of pathogenicity
Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
Health Risk
RS149625278
Conflicting classifications of pathogenicity
Syndromic multisystem autoimmune disease due to ITCH deficiency, ITCH-related disorder, Inborn genetic diseases
Health Risk
RS150653226
Conflicting classifications of pathogenicity
Syndromic multisystem autoimmune disease due to ITCH deficiency, Inborn genetic diseases, Syndromic multisystem autoimmune disease due to ITCH deficiency
Health Risk
RS200506310
Conflicting classifications of pathogenicity
Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
Health Risk
RS2515681435
Conflicting classifications of pathogenicity
Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
Health Risk
RS759646195
Conflicting classifications of pathogenicity
Syndromic multisystem autoimmune disease due to ITCH deficiency, Colorectal cancer, Familial cancer of breast
Health Risk
RS1988672290
Likely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
Health Risk
RS2038571383
Likely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
Health Risk
RS2146472496
Likely pathogenic
Health Risk
RS2515695390
Likely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
Health Risk
RS2515819804
Likely pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
Health Risk
RS1381447036
Pathogenic
Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147636046 | Health Risk | Conflicting classifications of pathogenicity | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS149625278 | Health Risk | Conflicting classifications of pathogenicity | Syndromic multisystem autoimmune disease due to ITCH deficiency, ITCH-related disorder, Inborn genetic diseases |
| RS150653226 | Health Risk | Conflicting classifications of pathogenicity | Syndromic multisystem autoimmune disease due to ITCH deficiency, Inborn genetic diseases, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS200506310 | Health Risk | Conflicting classifications of pathogenicity | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS2515681435 | Health Risk | Conflicting classifications of pathogenicity | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS759646195 | Health Risk | Conflicting classifications of pathogenicity | Syndromic multisystem autoimmune disease due to ITCH deficiency, Colorectal cancer, Familial cancer of breast |
| RS1988672290 | Health Risk | Likely pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS2038571383 | Health Risk | Likely pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS2146472496 | Health Risk | Likely pathogenic | — |
| RS2515695390 | Health Risk | Likely pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS2515819804 | Health Risk | Likely pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS1381447036 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS1568998827 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS1983332740 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS1988702062 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS2146507793 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS2515520453 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS2515548244 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS2515866863 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS2515940072 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS587776592 | Health Risk | Pathogenic | Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |