The CIITA gene homepage

General information
Gene symbol CIITA
Gene name class II, major histocompatibility complex, transactivator
Chromosome 16
Chromosomal band p13
Imprinted Unknown
Genomic reference LRG_49
Transcript reference NM_000246.3, XM_005255320.2, XM_005255321.2, XM_005255323.1
Associated with diseases RA, SCID due to absent class II HLA antigens
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 242
Unique public DNA variants reported 27
Individuals with public variants 35
Hidden variants 64
Date created November 30, -0001
Date last updated September 28, 2016
Version CIITA:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:7067
Entrez Gene 4261
PubMed articles CIITA
OMIM - Gene 600005
OMIM - Diseases RA (arthritis, rheumatoid (RA))
SCID due to absent class II HLA antigens


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021119 16 transcript variant 2 NM_000246.3 NP_000237.2 242
00037555 16 transcript variant X4 XM_005255323.1 XP_005255380.1 -
00037556 16 transcript variant X1 XM_005255320.2 XP_005255377.2 -
00037557 16 transcript variant X2 XM_005255321.2 XP_005255378.2 -