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Gene : CIITA Homo sapiens

Name  ? class II major histocompatibility complex transactivator Cytological Location  16p13.13
Brief Description  class II major histocompatibility complex transactivator
Description  This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
  • synonyms:
  • MHC2TA,
  • U18259,
  • CIITAIV,
  • nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing,
  • NLRA,
  • NLR family, acid domain containing,
  • CIITA,
  • C2TA,
  • OTTHUMG00000129753,
  • MHC2TA,
  • class II, major histocompatibility complex, transactivator,
  • C2TA,
  • HGNC:7067,
  • NM_000246,
  • MHC class II transactivator,
  • uc002dai.5,
  • NLRA
  • identifiers:
  • 4261,
  • ENSG00000179583,
  • CIITA

Genome feature

Region: gene ? Length: 75355  
Location: 16:10866208-10941562 Cyto location: 16p13.13


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Proteins

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SNPs

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Disease

2 Diseases

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

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

250 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results