CIITA Gene (Protein Coding)

Class II Major Histocompatibility Complex Transactivator

GC16P010879
GIFtS:
45
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 GT... See more...

Aliases for CIITA Gene

Aliases for CIITA Gene

  • Class II Major Histocompatibility Complex Transactivator 2 3 5
  • MHC Class II Transactivator 2 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Acid Domain Containing 2 3
  • NLR Family, Acid Domain Containing 2 3
  • MHC2TA 3 4
  • C2TA 2 3
  • NLRA 2 3
  • Class II, Major Histocompatibility Complex, Transactivator 2
  • MHC Class II Transactivator Type III 3
  • MHC Class II Transactivator Type I 3
  • EC 2.7.11.1 4
  • EC 2.3.1.- 4
  • CIITAIV 3
  • CIITA 5

External Ids for CIITA Gene

Previous HGNC Symbols for CIITA Gene

  • MHC2TA

Previous GeneCards Identifiers for CIITA Gene

  • GC16P010971

Summaries for CIITA Gene

Entrez Gene Summary for CIITA Gene

  • 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]

GeneCards Summary for CIITA Gene

CIITA (Class II Major Histocompatibility Complex Transactivator) is a Protein Coding gene. Diseases associated with CIITA include Bare Lymphocyte Syndrome, Type Ii and Rheumatoid Arthritis. Among its related pathways are Tuberculosis and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is NLRP1.

UniProtKB/Swiss-Prot Summary for CIITA Gene

  • Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirements for CIITA-mediated transcription are distinct from those of constitutive MHC class I transcription, and CIITA can functionally replace TAF1 at these genes. Exhibits intrinsic GTP-stimulated acetyltransferase activity. Exhibits serine/threonine protein kinase activity: can phosphorylate the TFIID component TAF7, the RAP74 subunit of the general transcription factor TFIIF, histone H2B at 'Ser-37' and other histones (in vitro).

Gene Wiki entry for CIITA Gene

Additional gene information for CIITA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CIITA Gene

Genomics for CIITA Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CIITA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J010874 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 601.8 +12.3 12320 7.7 SP1 KDM1A POLR2A BACH1 LARP7 STAT3 JUND ZNF143 RFX1 RELA CIITA ENSG00000262488 EMP2 LOC105371080 ENSG00000262151 DEXI
GH16J010866 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.7 0.0 -21 0.1 CIITA HSALNG0109560 ENSG00000262151 LOC105371080 TVP23A
GH16J010865 Enhancer 0.2 Ensembl 600.7 -1.4 -1407 0.4 CIITA HSALNG0109560 ENSG00000262151 LOC105371080 TVP23A
GH16J010743 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.2 -122.0 -122041 3.9 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 SOX13 NFKBIZ ZNF692 POLR2A HSALNG0109549 NUBP1 HNRNPCP4 SOCS1 CIITA ENSG00000256013 TEKT5 piR-50838 TVP23A
GH16J010867 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +4.0 4023 4.5 SP1 GATAD2A RCOR2 ZNF7 BACH1 RELA RXRB TCF12 IKZF2 RCOR1 ENSG00000263307 ZC3H7A CIITA HNRNPCP4 SOCS1 NUBP1 ENSG00000262151 LOC105371080 DEXI
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CIITA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CIITA

Top Transcription factor binding sites by QIAGEN in the CIITA gene promoter:
  • C/EBPbeta
  • CREB
  • deltaCREB
  • IRF-2
  • NRSF form 1
  • NRSF form 2
  • TBP

Genomic Locations for CIITA Gene

Genomic Locations for CIITA Gene
chr16:10,866,208-10,943,021
(GRCh38/hg38)
Size:
76,814 bases
Orientation:
Plus strand
chr16:10,971,055-11,026,079
(GRCh37/hg19)
Size:
55,025 bases
Orientation:
Plus strand

Genomic View for CIITA Gene

Genes around CIITA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CIITA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIITA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CIITA Gene

Proteins for CIITA Gene

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  3. Assay

  • Protein details for CIITA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33076-C2TA_HUMAN
    Recommended name:
    MHC class II transactivator
    Protein Accession:
    P33076
    Secondary Accessions:
    • A0N0N9
    • D3DUG0
    • E9PFE0
    • Q29675
    • Q8SNB8
    • Q96KL4

    Protein attributes for CIITA Gene

    Size:
    1130 amino acids
    Molecular mass:
    123514 Da
    Quaternary structure:
    • Interacts with ZXDA and ZXDC. Interacts with PML (isoform PML-2).
    Miscellaneous:
    • [Isoform 3]: Exhibits dominant-negative suppression of MHC class II gene expression.

    Alternative splice isoforms for CIITA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CIITA Gene

Protein Expression for CIITA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CIITA Gene

Other Protein References for CIITA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CIITA Gene

Domains & Families for CIITA Gene

Gene Families for CIITA Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CIITA Gene

InterPro:
Blocks:
  • Disease resistance protein signature
  • MHC class II transactivator signature
ProtoNet:

Suggested Antigen Peptide Sequences for CIITA Gene

GenScript: Design optimal peptide antigens:
  • Class II, major histocompatibility complex, transactivator (A0N0N9_HUMAN)
  • MHC class II transactivator (C2TA_HUMAN)
  • CIITA IV (Q66X48_HUMAN)
  • Class II transactivator (Q6LC19_HUMAN)
  • MHC class II transactivator CIITAmed (Q8SNB8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P33076

UniProtKB/Swiss-Prot:

C2TA_HUMAN :
  • The acetyltransferase domain is necessary for activation of both class I and class II transcription.
Domain:
  • The acetyltransferase domain is necessary for activation of both class I and class II transcription.
  • The GTP-binding motif doesn't confer GTPase activity but promotes nuclear localization.
genes like me logo Genes that share domains with CIITA: view

Function for CIITA Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for CIITA Gene

UniProtKB/Swiss-Prot Function:
Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirements for CIITA-mediated transcription are distinct from those of constitutive MHC class I transcription, and CIITA can functionally replace TAF1 at these genes. Exhibits intrinsic GTP-stimulated acetyltransferase activity. Exhibits serine/threonine protein kinase activity: can phosphorylate the TFIID component TAF7, the RAP74 subunit of the general transcription factor TFIIF, histone H2B at 'Ser-37' and other histones (in vitro).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:24036077};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:24036077};.

Enzyme Numbers (IUBMB) for CIITA Gene

Phenotypes From GWAS Catalog for CIITA Gene

Gene Ontology (GO) - Molecular Function for CIITA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 19041327
GO:0003677 NOT DNA binding TAS 15771576
GO:0003713 transcription coactivator activity TAS 7749984
GO:0005515 protein binding IEA,IPI 16600381
genes like me logo Genes that share ontologies with CIITA: view
genes like me logo Genes that share phenotypes with CIITA: view

Human Phenotype Ontology for CIITA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CIITA Gene

MGI Knock Outs for CIITA:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIITA

No data available for Transcription Factor Targets and HOMER Transcription for CIITA Gene

Localization for CIITA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CIITA Gene

Nucleus. Nucleus, PML body. Note=Recruited to PML body by PML.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CIITA gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CIITA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005829 cytosol IDA --
GO:0009986 cell surface IEA --
GO:0016605 PML body IEA,IDA 23007646
genes like me logo Genes that share ontologies with CIITA: view

Pathways & Interactions for CIITA Gene

genes like me logo Genes that share pathways with CIITA: view

Pathways by source for CIITA Gene

1 BioSystems pathway for CIITA Gene
1 Cell Signaling Technology pathway for CIITA Gene

SIGNOR curated interactions for CIITA Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for CIITA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IMP 19041327
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006954 inflammatory response IEA,IBA 21873635
GO:0006955 immune response TAS 8402893
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with CIITA: view

Drugs & Compounds for CIITA Gene

Products:

  1. Drug

(31) Drugs for CIITA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(25) Additional Compounds for CIITA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CIITA: view

Transcripts for CIITA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CIITA Gene

8 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIITA

Alternative Splicing Database (ASD) splice patterns (SP) for CIITA Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^
SP1: - - - -
SP2: - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - -
SP6: - - -
SP7: - -
SP8: - -
SP9: -
SP10:
SP11:

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for CIITA Gene

GeneLoc Exon Structure for
CIITA

Expression for CIITA Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CIITA Gene

mRNA expression in normal human tissues for CIITA Gene
mRNA expression by BioGPS for CIITA GenemRNA expression by GTEx for CIITA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Spleen (Hematopoietic System)

mRNA differential expression in normal tissues according to GTEx for CIITA Gene

This gene is overexpressed in Spleen (x4.8).

Protein differential expression in normal tissues from HIPED for CIITA Gene

This gene is overexpressed in Liver (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CIITA Gene



Protein tissue co-expression partners for CIITA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CIITA

SOURCE GeneReport for Unigene cluster for CIITA Gene:

Hs.701991

Evidence on tissue expression from TISSUES for CIITA Gene

  • Spleen(3.2)
  • Lymph node(3.2)
  • Blood(3)
  • Intestine(2.8)
  • Bone marrow(2.6)
  • Kidney(2.5)
  • Skin(2.4)
  • Lung(2.4)
  • Nervous system(2.2)
  • Heart(2.1)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CIITA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • larynx
  • meninges
  • neck
  • pharynx
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • ureter
  • urethra
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CIITA: view

No data available for mRNA Expression by UniProt/SwissProt for CIITA Gene

Orthologs for CIITA Gene

This gene was present in the common ancestor of chordates.

Orthologs for CIITA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CIITA 30 31
  • 99.03 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CIITA 30 31
  • 82.25 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CIITA 30 31
  • 80.89 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ciita 30 17 31
  • 77.06 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ciita 30
  • 77.02 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CIITA 31
  • 55 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia CIITA 31
  • 50 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LOC416633 30
  • 52.21 (n)
CIITA 31
  • 47 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CIITA 31
  • 32 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ciita 30
  • 43.84 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ciita 30 31
  • 46.56 (n)
 OneToOne
Species where no ortholog for CIITA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CIITA Gene

ENSEMBL:
Gene Tree for CIITA (if available)
TreeFam:
Gene Tree for CIITA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CIITA: view image

Paralogs for CIITA Gene

Paralogs for CIITA Gene

(1) SIMAP similar genes for CIITA Gene using alignment to 7 proteins:

  • C2TA_HUMAN
  • A0N0N9_HUMAN
  • E9PFE0_HUMAN
  • I3L2E5_HUMAN
  • I3L2P7_HUMAN
  • Q6LC19_HUMAN
  • Q8SNB8_HUMAN
genes like me logo Genes that share paralogs with CIITA: view

Variants for CIITA Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CIITA Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
636656 Likely Pathogenic: not provided 10,922,491(+) G/GT SPLICE_DONOR_VARIANT
638879 Uncertain Significance: Bare lymphocyte syndrome 2 10,907,306(+) T/G MISSENSE_VARIANT,INTRON_VARIANT
639151 Uncertain Significance: Bare lymphocyte syndrome 2 10,915,580(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
639535 Uncertain Significance: Bare lymphocyte syndrome 2 10,902,158(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
640628 Uncertain Significance: Bare lymphocyte syndrome 2 10,907,676(+) C/G MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CIITA Gene

Structural Variations from Database of Genomic Variants (DGV) for CIITA Gene

Variant ID Type Subtype PubMed ID
esv3637917 CNV loss 21293372
esv3637918 CNV loss 21293372
nsv1040428 CNV gain 25217958
nsv1069918 CNV deletion 25765185
nsv1138412 CNV deletion 24896259
nsv571452 CNV loss 21841781

Variation tolerance for CIITA Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.21; 62.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CIITA Gene

Human Gene Mutation Database (HGMD)
CIITA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CIITA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIITA Gene

Disorders for CIITA Gene

MalaCards: The human disease database

(25) MalaCards diseases for CIITA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bare lymphocyte syndrome, type ii
  • bls, type ii
rheumatoid arthritis
  • ra
toxic shock syndrome
  • toxic shock
primary adrenal insufficiency
arthritis
  • inflammatory disorder of joint
- elite association - COSMIC cancer census association via MalaCards
Search CIITA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

C2TA_HUMAN
  • Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: 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. {ECO:0000269 PubMed:10501838, ECO:0000269 PubMed:11466404, ECO:0000269 PubMed:11862382, ECO:0000269 PubMed:7749984, ECO:0000269 PubMed:8402893}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CIITA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CIITA: view

No data available for Genatlas for CIITA Gene

Publications for CIITA Gene

  1. CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis. (PMID: 20211854) Bronson PG … Barcellos LF (Human molecular genetics 2010) 3 23 41
  2. Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility. (PMID: 19317741) Dema B … Núñez C (Tissue antigens 2009) 3 23 41
  3. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. (PMID: 18593762) Skinningsrud B … Undlien DE (The Journal of clinical endocrinology and metabolism 2008) 3 23 41
  4. ZXDC, a novel zinc finger protein that binds CIITA and activates MHC gene transcription. (PMID: 16600381) Al-Kandari W … Fontes JD (Molecular immunology 2007) 3 4 23
  5. The zinc finger proteins ZXDA and ZXDC form a complex that binds CIITA and regulates MHC II gene transcription. (PMID: 17493635) Al-Kandari W … Fontes JD (Journal of molecular biology 2007) 3 4 23

ExternalLinks

View latest publications for CIITA gene in Mastermind

Products for CIITA Gene

  • Addgene plasmids for CIITA

Sources for CIITA Gene