CIITA Chromosome 16
Class II major histocompatibility complex transactivator
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What This Gene Does
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]
Gene Info
Gene Group
NLR family
Locus Type
gene with protein product
Location
16p13.13
Ensembl
ENSG00000179583
Associated Conditions (6)
MHC class II deficiency
CIITA-related disorder
Rheumatoid arthritis
MHC class II deficiency 1
Inborn genetic diseases
Acute myeloid leukemia
Key Variants
RS1319022837
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS138376967
Conflicting classifications of pathogenicity
MHC class II deficiency, CIITA-related disorder, MHC class II deficiency
Health Risk
RS138925894
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS140106499
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS140139362
Conflicting classifications of pathogenicity
MHC class II deficiency, CIITA-related disorder, Rheumatoid arthritis
Health Risk
RS140486686
Conflicting classifications of pathogenicity
MHC class II deficiency, CIITA-related disorder, MHC class II deficiency
Health Risk
RS141202424
Conflicting classifications of pathogenicity
MHC class II deficiency, CIITA-related disorder, MHC class II deficiency
Health Risk
RS142072017
Conflicting classifications of pathogenicity
MHC class II deficiency, Rheumatoid arthritis, Inborn genetic diseases
Health Risk
RS142478532
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS142848848
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS143497260
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
RS144735718
Conflicting classifications of pathogenicity
MHC class II deficiency, MHC class II deficiency
Health Risk
All Variants (130)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544475284 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544475779 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544477641 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544478713 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544485110 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544486450 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544486476 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544489480 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544490239 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544491788 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544492635 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544495876 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544496939 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544497246 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544498925 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544499041 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544499425 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS2544514798 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS367628451 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS372826934 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency 1, MHC class II deficiency |
| RS567218474 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS751733167 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS771073292 | Health Risk | Pathogenic | MHC class II deficiency 1, MHC class II deficiency 1 |
| RS771994666 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS778982759 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency 1, MHC class II deficiency |
| RS863223293 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency 1, MHC class II deficiency |
| RS901844850 | Health Risk | Pathogenic | MHC class II deficiency, MHC class II deficiency |
| RS1064794659 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, MHC class II deficiency 1, Rheumatoid arthritis |
| RS2144580551 | Health Risk | Pathogenic/Likely pathogenic | MHC class II deficiency, Rheumatoid arthritis, MHC class II deficiency 1 |
| RS3087456 | Health Risk | risk factor | Rheumatoid arthritis, Rheumatoid arthritis |