TAP2 - transporter 2, ATP binding cassette subfamily B member Gene

Homo sapiens

Also known as APT2; PSF2; ABC18; ABCB3; PSF-2; RING11; D6S217E

Gene ID: 6891 | Gene type: protein coding

About TAP2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,821,831-32,838,739 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 159 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in appendix (RPKM 22.8), lymph node (RPKM 22.1) and 24 other tissues.

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport Peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]

TAP2 Products(3)

mRNA	Protein	Name
NM_000544.3	NP_000535.3	antigen peptide transporter 2 isoform 1
NM_001290043.2	NP_001276972.1	antigen peptide transporter 2 isoform 3
NM_018833.3	NP_061313.2	antigen peptide transporter 2 isoform 2

TAP2 Protein Structure

ABC_membrane

ABC_tran

0
200
400
600
686 a.a.

Protein Preferred Names

Protein Names

antigen peptide transporter 2

ABC transporter, MHC 2

Related Diseases

Diseases

Alias

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

Immunodeficiency By Defective Expression Of Mhc Class I

Bare Lymphocyte Syndrome Type 1

Mhc Class I Deficiency

Spondylitis

Herpes Simplex

Herpes Simplex Infections	Herpesvirus Hominis Disease
Herpes Simplex Disease	Herpesviral Infection Due To Herpes Simplex
Infections Due To Simplex Virus	Herpes Nos

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

Echinococcosis

Hydatidosis	Echinococcal Disease
Echinococcosis Of Liver	Hepatic Echinococcosis
Hydatid Disease	Liver Echinococcus
Pulmonary Echinococcosis	Hydatids
Echinococcosis, Hepatic	Echinococcosis, Pulmonary
Unilocular Echinococcosis	Echinococcus Disease
Echinococcus Granulosus Infection	Echinococcus Multilocularis Infection
Dog Tapeworm Infection	Echinococcus Granulosus Infestation
Echinococciasis	Cystic Echinococcosis

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus Type 1
IDDM	Type 1 Diabetes
Insulin-Dependent Diabetes Mellitus	T1D
Juvenile-Onset Diabetes	Jod
Diabetes Mellitus, Type 1	Diabetes Mellitus, Insulin-Dependent-1
Type I Diabetes Mellitus	Autoimmune Diabetes
Juvenile Diabetes	Juvenile-Onset Diabetes Mellitus
Diabetes, Insulin Dependent	Insulin-Dependent Diabetes Mellitus-1
Diabetes Mellitus Insulin-Dependent	Diabetes Autoimmune
Diabetes Mellitus, Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 1, Susceptibility To
Diabetes Type 1	Type I Diabetes
Diabetes, Autoimmune	T1dm - [Type 1 Diabetes Mellitus]
Iddm - [Insulin Dependent Diabetes Mellitus]	Type 1 Iddm
Juvenile Diabetes Mellitus Without Compications	Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications
Juvenile-Onset Diabetes Mellitus Without Compications	Ketosis-Prone Diabetes Mellitus Without Compications
Juvenile-Onset-Type Diabetes Mellitus Without Compications

Reactive Arthritis

Postdysenteric Arthropathy	Reiter Disease
Pira	Reiter Syndrome
Reiters Syndrome	Arthritis, Reactive
Fiessinger Leroy Reiter Syndrome	Post-Bacterial Arthropathy
Reiter'S Disease	Post-Infectious Arthritis
Post-Infectious Reactive Arthropathy	Reiter'S Syndrome
Arthritis Urethritica	Fiessinger-Leroy Disease
Polyarthritis Enterica	Venereal Arthritis
Arthritis Reactive	Post-Dysenteric Arthropathy
Arthritis, Venereal

Spondyloarthropathy 1

Ankylosing Spondylitis	Spondyloarthropathy, Susceptibility To, 1
SPDA1	Marie-Strumpell Spondylitis
Bechterew Syndrome	Spa
Spondylarthritis Ankylopoietica	Reiter Syndrome
Ankylosing Spondylitis, Susceptibility To	Bekhterev Syndrome
Bekhterev'S Disease	Marie-Strumpell Disease
Axial Spondylarthritis	Bechterew Disease
Marie-Struempell Disease	Spondylitis Ankylopoietica
Spondyloarthritis	Spondyloarthritis Ankylopoietica
Spas	Ankylosing Spondylarthritis
Psoriatic Arthritis	Reactive Arthritis
Rheumatoid Spondylitis	Spondylitis Ankylosans
Spondylitis Ankylosing	Spondylitis, Ankylosing
Spondylarthropathies	Arthritis, Psoriatic
Arthritis, Reactive

Diabetes Mellitus

Diabetes

Joubert Syndrome 4

JBTS4	Joubert Syndrome With Renal Defect
Joubert Syndrome With Renal Anomalies	Js-R
Joubert Syndrome, Type 4

Severe Combined Immunodeficiency

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

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]

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14202	TAP2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TAP2	RGD	RGD:3818
Mus musculus	TAP2	MGD	MGI:98484
Others	TAP2	NCBI