Preferred Label : SOCS1 wt Allele;
NCIt synonyms : STAT Induced SH3 Protein 1 Gene; JAB; Cytokine-Inducible SH2 Protein 1 Gene; CIS1; SSI1; CISH1; SSI-1; SOCS-1; TIP3; Suppressor of Cytokine Signaling 1 wt Allele;
NCIt definition : Human SOCS1 wild-type allele is located in the vicinity of 16p13.13 and is approximately
2 kb in length. This allele, which encodes suppressor of cytokine signaling 1 protein,
plays a role in the negative regulation of cytokine signaling. Mutation of the gene
is associated with Hodgkin lymphoma and primary mediastinal B-cell lymphoma. Aberrant
methylation of the gene is associated with a large number of cancers and other diseases.;
NCIt note : Aberrant methylation in the CpG island of the SOCS1 gene causes loss of expression
and is associated with hepatocellular carcinoma, hepatoblastoma, hepatitis C virus-associated
chronic hepatitis and liver cirrhosis, brain tumor, head and neck squamous cell carcinoma,
gastric carcinoma, pancreatic cancer, colorectal cancer, acute myeloid leukemia, multiple
myeloma, myelodysplastic syndrome, chronic myeloid leukemia. (Atlas of Genetics and
Cytogenetics in Oncology and Haematology);
GenBank Accession Number : U88326;
Origin ID : C97795;
UMLS CUI : C3273630;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
