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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CIITA Gene

protein-coding GIFtS: 60
GCID: GC16P010879

class II, major histocompatibility complex, transactivator

(Previous name: MHC class II transactivator )
(Previous symbol: MHC2TA)

Explore 111 diseases affiliated with
CIITA via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Class II, Major Histocompatibility Complex, Transactivator¹ ²		CIITAIV²
MHC2TA¹ ² ³ ⁵		MHC Class II Transactivator Type III²
C2TA¹ ² ⁵		NLR Family, Acid Domain Containing²
NLRA¹ ²		Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Acid Domain Containing²
MHC Class II Transactivator¹ ²

External Ids:	HGNC: 7067¹	Entrez Gene: 4261²	Ensembl: ENSG00000179583⁷	OMIM: 600005⁵	UniProtKB: P33076³

Export aliases for CIITA gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CIITA:

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. (provided by RefSeq,

Jul 2008)

UniProtKB/Swiss-Prot: C2TA_HUMAN, P33076

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

Gene Wiki entry for CIITA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CIITA gene promoter:
TBP CREB C/EBPbeta IRF-2 NRSF form 1 deltaCREB NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CIITA promoter sequence

Search SABiosciences Chromatin IP Primers for CIITA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CIITA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13 Ensembl cytogenetic band: 16p13.13 HGNC cytogenetic band: 16p13

CIITA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CIITA gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P010879: view genomic region (about GC identifiers)

Start:	10,971,055 bp from pter	End:	11,026,079 bp from pter
Size:	55,025 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: C2TA_HUMAN, P33076 (See protein sequence)

Recommended Name: MHC class II transactivator

Size: 1130 amino acids; 123514 Da

Subunit: Interacts with ZXDA and ZXDC

Subcellular location: Nucleus

Secondary accessions: D3DUG0

Explore the universe of human proteins at neXtProt for CIITA: NX_P33076

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P33076

CIITA Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000237.2

ENSEMBL proteins:

ENSP00000316328 ENSP00000371257 ENSP00000459829 ENSP00000459608

Reactome Protein details: P33076
Human Recombinant Protein Products:

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	Novus Biologicals CIITA Protein Novus Biologicals CIITA Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CIITA

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005654	nucleoplasm	TAS	--

CIITA for ontologies About GeneDecksing

CIITA Antibody Products:

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	Uscn ELISAs and CLIAs for CIITA

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CIITA for domains About GeneDecksing

4 InterPro domains/families:

IPR001611 Leu-rich_rpt

IPR025875 Leu-rich_rpt_4

IPR008095 MHC_II_transact

IPR007111 NACHT_NTPase

Graphical View of Domain Structure for InterPro Entry P33076

ProtoNet protein and cluster: P33076

2 Blocks protein families:

IPB000767 Disease resistance protein signature

IPB008095 MHC class II transactivator signature

UniProtKB/Swiss-Prot: C2TA_HUMAN, P33076

Similarity: Contains 4 LRR (leucine-rich) repeats

Similarity: Contains 1 NACHT domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: C2TA_HUMAN, P33076

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

miRNA Products:		OriGene 3'-UTR Clone: CIITA Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CIITA
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate CIITA (see all 9):
		hsa-miR-142-3p hsa-miR-22 hsa-miR-3130-5p hsa-miR-3606 hsa-miR-4254 hsa-miR-148b hsa-miR-152 hsa-miR-3116

		SwitchGear 3'UTR luciferase reporter plasmid: CIITA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CIITA (see all 7) OriGene shRNA RFP: CIITA OriGene siRNA: CIITA
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CIITA

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CIITA (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CIITA OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CIITA (NM_000246)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CIITA
		Search LifeMap BioReagents cell lines for CIITA

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIITA

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	NOT DNA binding	TAS	15771576
GO:0003713	transcription coactivator activity	TAS	7749984
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--
GO:0008022	protein C-terminus binding	IPI	16600381

CIITA for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for CIITA: Ciita^tm1Ccum Ciita^tm1Jpyt Ciita^tm1Adm Ciita^tm2Wrth Ciita^tm1.1Dim Ciita^tm1Wrth
     6 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ciita):

cellular	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism	immune system
normal

CIITA for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Interferon gamma signaling

Interferon gamma signaling

1.00

Expression of IFNG-stimulated genes

0.72

Cytokine Signaling in Immune system

Cytokine Signaling in Immune system

1.00

Interferon Signaling

0.61

Lymphocyte Signaling

Lymphocyte Signaling

1.00

Immune System

Immune System

1.00

Type II interferon signaling (IFNG)

Type II interferon signaling (IFNG)

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for CIITA

Lymphocyte Signaling

1 BioSystems Pathway for CIITA

Type II interferon signaling (IFNG)

5 Reactome Pathways for CIITA

	Interferon gamma signaling
	Cytokine Signaling in Immune system
	Expression of IFNG-stimulated genes
	Interferon Signaling
	Immune System

5 Kegg Pathways (Kegg details for CIITA):

	Antigen processing and presentation
	Toxoplasmosis
	Tuberculosis
	Influenza A
	Primary immunodeficiency

CIITA for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CIITA

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/76 Interacting proteins for CIITA (P33076^{1, 3} ENSP00000316328⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 76)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ZXDC	Q2QGD7¹^,³, ENSP00000374359⁴	EBI-1538819,EBI-1538838 I2D: score=2 STRING: ENSP00000374359
ZXDA	P98168¹^,³, ENSP00000351530⁴	EBI-1538819,EBI-1538980 I2D: score=1 STRING: ENSP00000351530
HDAC4	P56524³, ENSP00000264606⁴	I2D: score=3 STRING: ENSP00000264606
NCOA1	Q15788³, ENSP00000320940⁴	I2D: score=3 STRING: ENSP00000320940
HDAC1	Q13547³, ENSP00000362649⁴	I2D: score=2 STRING: ENSP00000362649

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	19041327
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006955	immune response	TAS	8402893
GO:0019221	cytokine-mediated signaling pathway	TAS	--

CIITA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CIITA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CIITA
10/56 Novoseek chemical compound relationships for CIITA gene (see all 56) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
toxin-1	52.5	5	1460432 (1), 8940217 (1), 9191070 (1), 10721486 (1) (see all 5)
enterotoxin	45.1	5	2377230 (1), 8258334 (1), 9191070 (1), 9500785 (1) (see all 5)
glatiramer acetate	40.8	7	8965119 (1), 9117994 (1), 11739812 (1), 14732933 (1) (see all 5)
mdms	26.4	1	15593014 (1)
mannose	22.5	4	10950112 (1), 11529939 (1), 7629501 (1), 11062267 (1)
phosphotyrosine	9.13	1	10428838 (1)
polyinosinic-polycytidylic acid	8.82	1	16298971 (1)
proline	8.5	9	9144488 (1), 9234682 (1), 13679389 (1), 9122224 (1) (see all 6)
serine	7.32	24	13679389 (2), 17346795 (2), 9144488 (1), 17095509 (1) (see all 12)
tyrosine	7.15	9	10480952 (1), 11163041 (1), 9013947 (1), 10735951 (1) (see all 7)

Search CenterWatch for drugs/clinical trials and news about CIITA / C2TA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CIITA gene:

NM_000246.3

Unigene Cluster for CIITA:

Class II, major histocompatibility complex, transactivator

Hs.701991 [show with all ESTs]

Unigene Representative Sequence: NM_000246

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000324288(uc010bup.1 uc002dai.4 uc002daj.4 uc002dak.4)

ENST00000381835 ENST00000570546(uc002dag.2 uc002dah.2) ENST00000573309

ENST00000571186 ENST00000537380 ENST00000576601 ENST00000571190 ENST00000572665

ENST00000575513 ENST00000571545

miRNA Products:		OriGene 3'-UTR Clone: CIITA Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CIITA
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate CIITA (see all 9):
		hsa-miR-142-3p hsa-miR-22 hsa-miR-3130-5p hsa-miR-3606 hsa-miR-4254 hsa-miR-148b hsa-miR-152 hsa-miR-3116

		SwitchGear 3'UTR luciferase reporter plasmid: CIITA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CIITA (see all 7) OriGene shRNA RFP: CIITA OriGene siRNA: CIITA
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		GenScript: all cDNA clones in your preferred vector: CIITA (NM_000246)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CIITA

Additional cDNA sequence:

AY084054.1 AY084055.1 AY699071.1 U18288.1 U18302.1 U18303.1 U31931.1 X74301.1

12 DOTS entries:

DT.456139 DT.100751122 DT.95253892 DT.101979941 DT.87015775 DT.120691413 DT.91751988 DT.92424634

DT.95083268 DT.97812957 DT.100751121 DT.95152422

24/101 AceView cDNA sequences (see all 101):

AA905448 AA721482 AA211835 BF767857 AA287082 AI627287 U18303 AI640166

U18302 AW451712 AW576396 AY084054 AF410154 CF121798 BX093362 AI005200

BQ331865 U18259 AW262937 X74301 AA760807 AY084055 CF121763 BM476434

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CIITA (see all 11) About this scheme

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:							-														-

ExUns:	16	^	17	^	18	^	19	^	20	^	21a	·	21b	·	21c	^	22a	·	22b
SP1:			-								-
SP2:			-								-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CIITA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CIITA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCTCCCCTT

About this image
See CIITA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CIITA

SOURCE GeneReport for Unigene cluster: Hs.701991

SABiosciences Expression via Pathway-Focused PCR Arrays including CIITA:

Epigenetic Chromatin Modification Enzymes in human mouse rat

Type I Interferon Response in human mouse rat

Inflammasomes in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CIITA Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CIITA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CIITA gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CIITA⁶	Uncharacterized protein	47(a)	1 ↔ 1	14(9290165-9298267)
lizard (Anolis carolinensis)	Reptilia	CIITA⁶	--	37(a)	1 ↔ 1	GL343592.1(363603-370842)
zebrafish (Danio rerio)	Actinopterygii	ciita¹	class II, major histocompatibility complex, transactivator	46.76(n) 36.43(a)		100003537 XM_001343036.2 XP_001343072.2

ENSEMBL Gene Tree for CIITA (if available)
TreeFam Gene Tree for CIITA (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CIITA gene

NLRC5² NOD2² NOD1²

2 SIMAP similar genes for CIITA using alignment to 7 protein entries: C2TA_HUMAN (see all proteins):

C2TA MHC2TA

CIITA for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199476060^1,2	C,	untested	10889091(+)	`AAAAGA/GCCGGG`	1	--	int¹		0	--	--	--	--
rs199476062^1,2	C,	untested	10910599(+)	`AGTTGG/TTCTCT`	1	--	int¹		0	--	--	--	--
rs199476069^1,2	C,	untested	10918419(+)	`CGGCCA/GCGTGA`	2	P	syn¹		0	--	--	--	--
rs74644206^1,2	F,	--	10887553(+)	`ATCATT/ATGTAG`	1	--	us2k¹		1		WA	118
rs59252235^1,2	C,F,	--	10887967(+)	`GCTTCG/CGCCTC`	1	--	us2k¹		2		WA CSA	4
rs111619857^1,2		--	10888016(+)	`AGCCAC/TCTACT`	1	--	us2k¹		1		CSA	2
rs75606348^1,2	C,F,	--	10888066(+)	`AAAAAT/CGGCAA`	1	--	us2k¹		1		NA	120
rs78189479^1,2	F,	--	10888108(+)	`GAGTGA/CTGTTA`	1	--	us2k¹		1		WA	118
rs72770014^1,2	C,	--	10888258(+)	`GAGGAT/CGGGCA`	1	--	us2k¹		1		NA	120
rs76456090^1,2	F,	--	10888268(+)	`AGAGAC/TTGGAA`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for CIITA (10971055 - 11026079 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CIITA: --
Human Gene Mutation Database (HGMD): CIITA

Locus Specific Mutation Databases (LSDB): CIITA

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CIITA

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CIITA for disorders           About GeneDecksing

OMIM gene information: 600005
OMIM disorders: 209920  180300
UniProtKB/Swiss-Prot: C2TA_HUMAN, P33076

Defects in CIITA are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary

MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is 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

20/111 diseases for CIITA (see all 111): About MalaCards

bare lymphocyte syndrome mhc class ii deficiency bare lymphocyte syndrome, type ii, complementation group a rheumatoid arthritis

myocardial infarction combined immunodeficiency multiple sclerosis ocular cicatricial pemphigoid

cicatricial pemphigoid arthritis immunodeficiency relapsing-remitting multiple sclerosis

diffuse large b-cell lymphoma staphylococcal toxic shock syndrome toxic shock syndrome pemphigus vulgaris

severe combined immunodeficiency alopecia areata wegener's granulomatosis graft versus host disease

1 disease from the University of Copenhagen DISEASES database for CIITA:

Severe combined immunodeficiency

10/96 Novoseek disease relationships for CIITA gene (see all 96) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bare lymphocyte syndrome	91.2	13	15655668 (1), 10417269 (1), 8402893 (1), 12705848 (1) (see all 12)
hla-do	73.5	1	12938212 (1)
toxic shock syndrome	52	5	1460432 (1), 8940217 (1), 9191070 (1), 10721486 (1) (see all 5)
immunodeficiency	51.6	29	16973583 (1), 1934608 (1), 9166418 (1), 15655668 (1) (see all 27)
autoimmune diseases	50.8	10	19317741 (3), 8700841 (1), 9115290 (1), 18630461 (1) (see all 8)
ocular cicatricial pemphigoid	46.9	1	8710911 (1)
necrosis	46.4	21	11104808 (1), 20478458 (1), 9857349 (1), 11907163 (1) (see all 20)
encephalomyelitis	42.2	1	7542603 (1)
autoimmunity	38.3	5	20403960 (1), 1713250 (1), 18593762 (1), 7507253 (1) (see all 5)
autoimmune response	35.4	1	8583696 (1)

Genetic Association Database (GAD): CIITA
Human Genome Epidemiology (HuGE) Navigator: CIITA (42 documents)

Export disorders for CIITA gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CIITA gene, integrated from 9 sources (see all 581):
(articles sorted by number of sources associating them with CIITA)

Utopia: connect your pdf to the dynamic
world of online information

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). (PubMed id 8402893)^{1, 2, 3, 9} Steimle V.... Mach B. (1993)
ZXDC, a novel zinc finger protein that binds CIITA and activates MHC gene transcription. (PubMed id 16600381)^{1, 2, 9} Al-Kandari W.... Fontes J.D. (2007)
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. (PubMed id 11862382)^{1, 2, 9} Dziembowska M.... Lisowska-Grospierre B. (2002)
Activation of class II MHC genes requires both the X box region and the class II transactivator (CIITA). (PubMed id 7749984)^{1, 2, 9} Riley J.L.... Boss J.M. (1995)
The zinc finger proteins ZXDA and ZXDC form a complex that binds CIITA and regulates MHC II gene transcription. (PubMed id 17493635)^{1, 2, 9} Al-Kandari W.... Fontes J.D. (2007)
Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA). (PubMed id 11857059)^{1, 4, 9} Patarroyo J.C....Zamvil S.S. (2002)
Single nucleotide polymorphisms in the gene encoding the major histocompatibility complex class II transactivator (CIITA) in systemic lupus erythematosus. (PubMed id 15897313)^{1, 4, 9} Koizumi K....Kamatani N. (2005)
Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA. (PubMed id 10501838)^{1, 2, 9} Quan V.... Kelly A.P. (1999)
Relationship between polymorphism of class II transactivator gene promoters and chronic hepatitis B. (PubMed id 15682480)^{1, 4} Zhao Y.R....Lu C. (2005)
Mutation in the class II trans-activator leading to a mild immunodeficiency. (PubMed id 11466404)^{1, 2} Wiszniewski W.... Lisowska-Grospierre B. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4261	HGNC: 7067	AceView: MHC2TA	Ensembl:ENSG00000179583	euGenes: HUgn4261
ECgene: CIITA	Kegg: 4261	H-InvDB: CIITA

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CIITA	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CIITA	Genetics and Cytogenetics in Oncology and Haematology
CIITAbase	http://bioinf.uta.fi/CIITAbase/

Intellectual Property for CIITA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CIITA gene:
Search GeneIP for patents involving CIITA

GeneCards and IP:
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CIITA Gene

class II, major histocompatibility complex, transactivator

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