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Gene : CTLA4 Homo sapiens

Name  ? cytotoxic T-lymphocyte associated protein 4 Cytological Location  2q33.2
Brief Description  cytotoxic T-lymphocyte associated protein 4
Description  This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]
  • synonyms:
  • IDDM12,
  • NM_005214,
  • celiac disease 3,
  • GSE,
  • CELIAC3,
  • CD152,
  • IDDM12,
  • CELIAC3,
  • CTLA-4,
  • CD,
  • CD152,
  • uc002vak.3,
  • CD,
  • CTLA4,
  • GSE,
  • HGNC:2505,
  • ALPS5,
  • GRD4,
  • OTTHUMG00000132877,
  • insulin-dependent diabetes mellitus 12,
  • CTLA-4
  • identifiers:
  • 1493,
  • ENSG00000163599,
  • CTLA4

Genome feature

Region: gene ? Length: 6195  
Location: 2:203867771-203873965 Cyto location: 2q33.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

5 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

253 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results