CIITA - class II major histocompatibility complex transactivator Gene

Homo sapiens

Also known as C2TA; NLRA; MHC2TA; CIITAIV

Gene ID: 4261 | Gene type: protein coding

About CIITA

Cytogenetic location: 16p13.13 Genomic coordinates (GRCh38): 16:10,866,206-10,943,021 (from NCBI)

This gene has 20 transcripts (splice variants), 139 orthologues, 20 paralogues and is associated with 84 phenotypes. Broad expression in spleen (RPKM 12.7), lymph node (RPKM 11.9) and 19 other tissues.

Summary

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]

CIITA Products(8)

mRNA	Protein	Name
NM_000246.4	NP_000237.2	MHC class II transactivator isoform 2
NM_001286402.1	NP_001273331.1	MHC class II transactivator isoform 1
NM_001286403.2	NP_001273332.1	MHC class II transactivator isoform 3
NM_001379330.1	NP_001366259.1	MHC class II transactivator isoform 4
NM_001379331.1	NP_001366260.1	MHC class II transactivator isoform 5
NM_001379332.1	NP_001366261.1	MHC class II transactivator isoform 1
NM_001379333.1	NP_001366262.1	MHC class II transactivator isoform 2
NM_001379334.1	NP_001366263.1	MHC class II transactivator isoform 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	9171108	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10938133	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	17493635	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	19041327	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19041327	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	19041327	GOA
involved in negative regulation of viral entry into host cell	IDA IDA: Inferred from direct assay	32855215	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	19041327	GOA
involved in positive regulation of MHC class I biosynthetic process	IDA IDA: Inferred from direct assay	20639463	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	20639463	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	9171108	GOA
acts upstream of or within response to antibiotic	IDA IDA: Inferred from direct assay	107465	GOA
involved in response to type II interferon	IDA IDA: Inferred from direct assay	19041327	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in PML body	IDA IDA: Inferred from direct assay	23007646	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CIITA Protein Structure

NACHT

LRR_4

0
200
400
600
800
1000
1130 a.a.

Protein Preferred Names

Protein Names

MHC class II transactivator

MHC class II transactivator type I

Related Diseases

Diseases

Alias

Bare Lymphocyte Syndrome, Type Ii

Mhc Class Ii Deficiency	Bare Lymphocyte Syndrome
Major Histocompatibility Complex Class Ii Deficiency	Bare Lymphocyte Syndrome 2
Bare Lymphocyte Syndrome Type 2	Severe Combined Immunodeficiency, Hla Class Ii-Negative
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C	Bare Lymphocyte Syndrome, Type Ii, Complementation Group D
Bare Lymphocyte Syndrome Type Ii	Scid, Hla Class Ii-Negative
Bare Lymphocyte Syndrome, Type Ii, Complementation Group A	Bare Lymphocyte Syndrome, Type Ii, Complementation Group B
Scid Due To Absent Class Ii Hla Antigens	Hla Class 1 Deficiency
Scid, Hla Class 2-Negative	Bls Type Ii
Bare Lymphocyte Syndrome Type 2, Complementation Group A	Bare Lymphocyte Syndrome Type 2, Complementation Group E
Severe Combined Immunodeficiency	Bls, Type Ii
Bls	Bare Lymphocyte Syndrome, Type Ii, Complementation Group E
Blsii	Bls Type 1
Bls 2	Scid Due To Absence Of Class Ii Hla Antigens
Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens	Immunodeficiency By Defective Expression Of Mhc Class Ii
BLS2	Bare Lymphocyte Syndrome Type Ii Complementation Group A
Bare Lymphocyte Syndrome Type Ii Complementation Group B	Bare Lymphocyte Syndrome Type Ii Complementation Group C
Bare Lymphocyte Syndrome Type Ii Complementation Group D	Bare Lymphocyte Syndrome Type Ii Complementation Group E
Bls Ii	Hereditary Mhc Class Ii Deficiency
Hla Class Ii Deficient Combined Immunodeficiency	Mhc-Ii Deficiency
Scid Hla Class Ii-Negative	Severe Combined Immunodeficiency Hla Class Ii-Negative
Bl-2	Immunodeficiency By Defective Expression Of Hla Class 2
Hla Class 2-Negative Severe Combined Immunodeficiency

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Toxic Shock Syndrome

Septic Shock	Toxic Shock
Tss	Shock, Septic
Staphylococcal Toxic Shock Syndrome	Tss - [Toxic Shock Syndrome]

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Ocular Cicatricial Pemphigoid

OCP	Cicatricial Pemphigoid, Ocular
Pemphigoid, Ocular Cicatricial	Pemphigoid, Benign Mucous Membrane

Multiple Sclerosis

MS	Multiple Sclerosis, Susceptibility To
Disseminated Sclerosis	Multiple Sclerosis, Disease Progression, Modifier Of
Insular Sclerosis	Multiple Sclerosis Modifier Of Disease Progression
Multiple Sclerosis, Susceptibility To 1	Multiple Sclerosis, Susceptibility To, 1
Multiple Sclerosis 1	Generalized Multiple Sclerosis
Multiple Sclerosis Variant	Multiple Sclerosis Susceptibility To
Cerebrospinal Sclerosis	Generalised Multiple Sclerosis
Ms - [Multiple Sclerosis]	Disseminated Cerebrospinal Sclerosis
Disseminated Multiple Sclerosis	Disseminated Nervous System Myelosclerosis
Multiple Cerebrospinal Sclerosis	Multiple Combined Sclerosis
Multiple Sclerosis Generalised	Disseminated Brain Sclerosis
Disseminated Spinal Sclerosis	Insular Brain Sclerosis
Miliary Brain Sclerosis	Multiple Combined Sclerosis Of Spinal Cord
Multiple Ascending Sclerosis	Multiple Brain Sclerosis
Multiple Sclerosis Of Brain Stem	Multiple Sclerosis Of The Brain Stem
Multiple Sclerosis Of Cord	Sclérose En Plaques
Plaque Sclerosis	Multiple Sclerosis Of The Spinal Cord

Myocardial Infarction

Heart Attack	Myocardial Infarction, Susceptibility To
Myocardial Infarction 1	Myocardial Infarction, Protection Against
Myocardial Infarction, Decreased Susceptibility To	Myocardial Infarction, Decreased
Myocardial Infarct	MCI1
Premature Myocardial Infarction	Myocardial Infarction, Susceptibility To, Type 1

Ocular Melanoma

Intraocular Melanoma	Uveal Melanoma
Eye Melanoma	Melanoma Of Eye
Melanoma Of The Uvea	Malignant Melanoma Of Eye

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Autoimmune Disease

Autoimmune Diseases	Autoimmune Hypersensitivity Disease
Hypersensitivity Reaction Type Ii Disease	Type Ii Hypersensitivity Reaction Disease

Primary Mediastinal B-Cell Lymphoma

Large Cell Lymphoma Of The Mediastinum	Mediastinal Diffuse Large-Cell Lymphoma With Sclerosis
Primary Mediastinal Clear Cell Lymphoma Of B-Cell Type

Gray Zone Lymphoma

B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

B-Cell Lymphoma

Lymphoma, B-Cell	B-Cell Lymphomas
B-Cell Lymphocytic Neoplasm	Lymphoma B-Cell
B-Cell Lymphoma Nos

Bare Lymphocyte Syndrome, Type I

Hla Class I Deficiency	Mhc Class I Deficiency
Bls, Type I	Bare Lymphocyte Syndrome Type I
Bare Lymphocyte Syndrome, Type I, Due To Tap2 Deficiency	Blsi
Mhc Class 1 Deficiency	Major Histocompatibility Complex Class 1 Deficiency
Bare Lymphocyte Syndrome 1	BLS1
Bls I	Bls Type I
Bl-1	Bare Lymphocyte Syndrome Type 1
Immunodeficiency By Defective Expression Of Hla - [Human Leukocyte Antigen] Class 1	Scid - [Severe Combined Immunodeficiency] Due To Absent Class 2 Hla Antigens
Bls - [Bare Lymphocyte Syndrome] Nos

Mediastinal Gray Zone Lymphoma

Mediastinal B-Cell Lymphoma, Unclassifiable, With Features Intermediate Between Diffuse Large B-Cell Lymphoma And Classical Hodgkin Lymphoma

Mediastinal Malignant Lymphoma

Lymphoma Of Mediastinum

Mediastinal Lymphoma

Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1

Vitiligo	VAMAS1
Slev1	Vtlg
Systemic Lupus Erythematosus, Vitiligo-Related	Vitiligo-Associated Multiple Autoimmune Disease 1
Systemic Lupus Erythematosus Vitiligo-Related

Testicular Lymphoma

Malignant Lymphoma Of Testis

Lymphoma Of The Testis

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Hashimoto Thyroiditis

Autoimmune Thyroiditis	Hashimoto Struma
Hashimoto'S Thyroiditis	Chronic Lymphocytic Thyroiditis
Lymphocytic Thyroiditis	Hashimoto Disease
Ht	Hashimoto'S Disease
Hashimoto'S Syndrome	Hypothyroidism, Autoimmune
Autoimmune Chronic Lymphocytic Thyroiditis	Chronic Lymphocytic Thyroiditides
Hashimoto Syndrome	Hashimotos Thyroiditis
Hashimoto Thyroiditis, Susceptibility To	Thyroiditis, Autoimmune
Lymphomatous Thyroiditis	Lymphoid Thyroiditis
Chronic Lymphadenoid Thyroiditis	Autoimmune Lymphocytic Chronic Thyroiditis
Goitre Lymphomatosa	Hashitoxicosis
Hashimoto Hypothyroidism	Lymphadenoid Goitre
Struma Lymphomatosa	Hyperthyroidism With Hashimoto Disease
Hashimoto Thyrotoxicosis	Thyrotoxicosis Due To Hashimoto Thyroiditis
Struma Lymphomatosis	Lymphadenoid Struma

Celiac Disease 1

Celiac Disease	Coeliac Disease
Celiac Sprue	Celiac Disease, Susceptibility To
Gluten-Sensitive Enteropathy	Nontropical Sprue
Sprue	CELIAC1
Celiac Disease, Susceptibility To, 1	Celiac Sprue 1
Celiac Sprue, Susceptibility To, 1	Gluten-Sensitive Enteropathy 1
Gluten-Sensitive Enteropathy, Susceptibility To, 1	Idiopathic Steatorrhea
Cœliac Disease	Gluten Intolerance
Gluten-Induced Enteropathy	Gluten Enteropathy
Celiac Disease, Susceptibility To, Type 1	Childhood Celiac Disease
Coeliac Rickets	Gee Disease
Gee-Herter Disease	Heubner-Herter Disease
Idiopathic Steatorrhoea	Thaysen'S Disease
Herter Gee Syndrome

Primary Biliary Cholangitis

Primary Biliary Cirrhosis	Biliary Liver Cirrhosis
Chronic Nonsuppurative Destructive Cholangitis	Familial Primary Biliary Cirrhosis
Pbc	Hanot Syndrome
Cholestatic Cirrhosis	Biliary Cirrhosis Primary
Liver Cirrhosis, Biliary	Hanot'S Cirrhosis
Biliary Cirrhosis	Pericholangiolic Biliary Cirrhosis
Tannhauser-Magendantz Syndrome	Hanot-Rossle Syndrome
Hypertrophic Cirrhosis	Todd Cirrhosis
Hanot Cirrhosis	Charcot Cirrhosis
Mahon-Tannhauser Syndrome	Toxic Cirrhosis
Hypertrophic Biliary Cirrhosis	Monolobular Cirrhosis
Unilobar Cirrhosis	Xanthomatous Biliary Cirrhosis

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02714	CIITA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CIITA	MGD	MGI:108445
Macaca mulatta	CIITA	VGNC	VGNC:71385
Rattus norvegicus	CIITA	RGD	RGD:619813
Bos taurus	CIITA	VGNC	VGNC:27366
Canis familiaris	CIITA	VGNC	VGNC:39273
Felis catus	CIITA	VGNC	VGNC:68254

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