Gene: CIITA

Alternate names for this Gene: C2TA|CIITAIV|MHC2TA|NLRA

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.13

Description of this Gene: class II major histocompatibility complex transactivator

Type of Gene: protein-coding

Gene: LOC105371080

Alternate names for this Gene:

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rs6498114 in CIITA;LOC105371080 gene and Celiac Disease PMID 22057235 2011 Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

rs6498114 in CIITA;LOC105371080 gene and Nasopharyngeal Neoplasms PMID 27436580 2016 An extended genome-wide association study identifies novel susceptibility loci for nasopharyngeal carcinoma.

rs12325238 in CIITA;LOC105371080 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.