SKIC2 Chromosome 6
SKI2 subunit of superkiller complex
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What This Gene Does
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ski2 like RNA helicases|SKI complex subunits"
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000204351
Associated Conditions (12)
Hepatocellular carcinoma
Trichohepatoenteric syndrome 2
Inborn genetic diseases
SKIC2-related disorder
Melanoma
Ovarian serous cystadenocarcinoma
Lung cancer
Trichohepatoenteric syndrome
Gastric cancer
Uterine corpus endometrial carcinoma
See cases
Immunodeficiency 57
Key Variants
RS1276606764
Conflicting classifications of pathogenicity
Hepatocellular carcinoma, Hepatocellular carcinoma
Health Risk
RS142860816
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS144418335
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS144670908
Conflicting classifications of pathogenicity
Inborn genetic diseases, SKIC2-related disorder, Melanoma
Health Risk
RS190972540
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, SKIC2-related disorder, Trichohepatoenteric syndrome 2
Health Risk
RS201764098
Conflicting classifications of pathogenicity
Health Risk
RS35985869
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374744199
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS553733225
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS565424838
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS577271106
Conflicting classifications of pathogenicity
Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
Health Risk
RS58092713
Conflicting classifications of pathogenicity
Inborn genetic diseases, Trichohepatoenteric syndrome 2, Inborn genetic diseases
Health Risk
All Variants (141)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2482963880 | Health Risk | Pathogenic | — |
| RS2482964196 | Health Risk | Pathogenic | — |
| RS2482977604 | Health Risk | Pathogenic | — |
| RS2482978171 | Health Risk | Pathogenic | — |
| RS2482980547 | Health Risk | Pathogenic | — |
| RS2482987424 | Health Risk | Pathogenic | — |
| RS2482991939 | Health Risk | Pathogenic | — |
| RS2482996768 | Health Risk | Pathogenic | — |
| RS2482998785 | Health Risk | Pathogenic | — |
| RS2483001580 | Health Risk | Pathogenic | — |
| RS2483002301 | Health Risk | Pathogenic | — |
| RS2483004287 | Health Risk | Pathogenic | — |
| RS2483004524 | Health Risk | Pathogenic | — |
| RS281875237 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS372977009 | Health Risk | Pathogenic | — |
| RS745526087 | Health Risk | Pathogenic | — |
| RS750528095 | Health Risk | Pathogenic | — |
| RS750724648 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS751026211 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 2, SKIC2-related disorder, Trichohepatoenteric syndrome 2 |
| RS751074844 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS754937769 | Health Risk | Pathogenic | — |
| RS755457576 | Health Risk | Pathogenic | — |
| RS759032324 | Health Risk | Pathogenic | — |
| RS759428204 | Health Risk | Pathogenic | — |
| RS762491815 | Health Risk | Pathogenic | — |
| RS766089213 | Health Risk | Pathogenic | — |
| RS767084483 | Health Risk | Pathogenic | Immunodeficiency 57, Immunodeficiency 57 |
| RS768131466 | Health Risk | Pathogenic | — |
| RS768446878 | Health Risk | Pathogenic | — |
| RS770099418 | Health Risk | Pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS775004895 | Health Risk | Pathogenic | — |
| RS779722086 | Health Risk | Pathogenic | — |
| RS898388789 | Health Risk | Pathogenic | — |
| RS1582192007 | Health Risk | Pathogenic/Likely pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS1772611373 | Health Risk | Pathogenic/Likely pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS1772636752 | Health Risk | Pathogenic/Likely pathogenic | Trichohepatoenteric syndrome, Trichohepatoenteric syndrome |
| RS1772848223 | Health Risk | Pathogenic/Likely pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS200271795 | Health Risk | Pathogenic/Likely pathogenic | Trichohepatoenteric syndrome, Trichohepatoenteric syndrome |
| RS759511516 | Health Risk | Pathogenic/Likely pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome, Trichohepatoenteric syndrome 2 |
| RS768503878 | Health Risk | Pathogenic/Likely pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |
| RS969421193 | Health Risk | Pathogenic/Likely pathogenic | Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2 |