Entity Details

Primary name CIITA
Entity type gene
Source Source Link

Details

PrimaryID4261
RefseqGeneNG_009628
SymbolCIITA
Nameclass II major histocompatibility complex transactivator
Chromosome16
Location16p13.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-20
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsC2TA_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000976 transcription cis-regulatory region binding
GO:0003713 transcription coactivator activity
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0008022 protein C-terminus binding
GO:0016605 PML body
GO:0016746 acyltransferase activity
GO:0032966 negative regulation of collagen biosynthetic process
GO:0034341 response to interferon-gamma
GO:0044877 protein-containing complex binding
GO:0045345 positive regulation of MHC class I biosynthetic process
GO:0045348 positive regulation of MHC class II biosynthetic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046597 negative regulation of viral entry into host cell
GO:0046677 response to antibiotic
GO:0060333 interferon-gamma-mediated signaling pathway
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity

Diseases

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Disease IDSourceNameDescription
209920 OMIMBare lymphocyte syndrome 2 (BLS2)A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. The disease is caused by variants affecting the gene represented in this entry.