Version: 8.0.0Date: Tue Jan 28 2025
Gene
CIITA
- Species
- Homo sapiens
- Symbol
- CIITA
- Name
- class II major histocompatibility complex transactivator
- Synonyms
- C2TA
- CIITAIV
- Biotype
- protein coding gene
- Automated Description
- Enables DNA-binding transcription factor binding activity and transcription cis-regulatory region binding activity. Involved in several processes, including positive regulation of MHC class I biosynthetic process; regulation of transcription by RNA polymerase II; and response to type II interferon. Acts upstream of or within response to antibiotic. Located in PML body and cytosol. Implicated in Addison's disease; MHC class II deficiency; autoimmune disease (multiple); and myocardial infarction.
- RGD 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR47189
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr16:10866206...10943021 + (76.82 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.