Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	6891
Gene name	Transporter 2, ATP binding cassette subfamily B member
Gene symbol	TAP2
Synonyms (NCBI Gene)	ABC18ABCB3APT2D6S217EMHC1D2PSF-2PSF2RING11
Chromosome	6
Chromosome location	6p21.32
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

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736923	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1222208628	C>T	Likely-pathogenic	Splice donor variant
rs1321880935	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1562331529	C>-	Pathogenic	Coding sequence variant, frameshift variant

104

Show/Hide all (104)

miRTarBase ID	miRNA	Experiments	Reference
MIRT739187	hsa-miR-3145-5p	HITS-CLIP	33718276
MIRT739189	hsa-miR-1972	HITS-CLIP	33718276
MIRT1411104	hsa-miR-1207-5p	CLIP-seq
MIRT1411105	hsa-miR-1225-5p	CLIP-seq
MIRT1411106	hsa-miR-1226	CLIP-seq
MIRT1411107	hsa-miR-124	CLIP-seq
MIRT1411108	hsa-miR-1272	CLIP-seq
MIRT1411109	hsa-miR-1302	CLIP-seq
MIRT1411110	hsa-miR-1321	CLIP-seq
MIRT1411111	hsa-miR-1322	CLIP-seq
MIRT1411112	hsa-miR-1324	CLIP-seq
MIRT1411113	hsa-miR-1343	CLIP-seq
MIRT1411114	hsa-miR-216a	CLIP-seq
MIRT1411115	hsa-miR-3074-5p	CLIP-seq
MIRT1411116	hsa-miR-3159	CLIP-seq
MIRT1411117	hsa-miR-3166	CLIP-seq
MIRT1411118	hsa-miR-3180-5p	CLIP-seq
MIRT1411119	hsa-miR-3192	CLIP-seq
MIRT1411120	hsa-miR-331-3p	CLIP-seq
MIRT1411121	hsa-miR-3591-3p	CLIP-seq
MIRT1411122	hsa-miR-3658	CLIP-seq
MIRT1411123	hsa-miR-3679-3p	CLIP-seq
MIRT1411124	hsa-miR-3690	CLIP-seq
MIRT1411125	hsa-miR-3914	CLIP-seq
MIRT1411126	hsa-miR-3943	CLIP-seq
MIRT1411127	hsa-miR-4254	CLIP-seq
MIRT1411128	hsa-miR-4270	CLIP-seq
MIRT1411129	hsa-miR-4297	CLIP-seq
MIRT1411130	hsa-miR-4298	CLIP-seq
MIRT1411131	hsa-miR-4426	CLIP-seq
MIRT1411132	hsa-miR-4436a	CLIP-seq
MIRT1411133	hsa-miR-4441	CLIP-seq
MIRT1411134	hsa-miR-4476	CLIP-seq
MIRT1411135	hsa-miR-4481	CLIP-seq
MIRT1411136	hsa-miR-4494	CLIP-seq
MIRT1411137	hsa-miR-4499	CLIP-seq
MIRT1411138	hsa-miR-4506	CLIP-seq
MIRT1411139	hsa-miR-4513	CLIP-seq
MIRT1411140	hsa-miR-4514	CLIP-seq
MIRT1411141	hsa-miR-4638-3p	CLIP-seq
MIRT1411142	hsa-miR-4645-5p	CLIP-seq
MIRT1411143	hsa-miR-4647	CLIP-seq
MIRT1411144	hsa-miR-4659a-3p	CLIP-seq
MIRT1411145	hsa-miR-4659b-3p	CLIP-seq
MIRT1411146	hsa-miR-4662b	CLIP-seq
MIRT1411147	hsa-miR-4673	CLIP-seq
MIRT1411148	hsa-miR-4692	CLIP-seq
MIRT1411149	hsa-miR-4698	CLIP-seq
MIRT1411150	hsa-miR-4733-3p	CLIP-seq
MIRT1411151	hsa-miR-4739	CLIP-seq
MIRT1411152	hsa-miR-4745-5p	CLIP-seq
MIRT1411153	hsa-miR-4753-5p	CLIP-seq
MIRT1411154	hsa-miR-4756-5p	CLIP-seq
MIRT1411155	hsa-miR-4763-3p	CLIP-seq
MIRT1411156	hsa-miR-4778-3p	CLIP-seq
MIRT1411157	hsa-miR-494	CLIP-seq
MIRT1411158	hsa-miR-506	CLIP-seq
MIRT1411159	hsa-miR-518a-5p	CLIP-seq
MIRT1411160	hsa-miR-520a-5p	CLIP-seq
MIRT1411161	hsa-miR-525-5p	CLIP-seq
MIRT1411162	hsa-miR-527	CLIP-seq
MIRT1411163	hsa-miR-532-5p	CLIP-seq
MIRT1411164	hsa-miR-545	CLIP-seq
MIRT1411165	hsa-miR-548a-5p	CLIP-seq
MIRT1411166	hsa-miR-548ab	CLIP-seq
MIRT1411167	hsa-miR-548ak	CLIP-seq
MIRT1411168	hsa-miR-548an	CLIP-seq
MIRT1411169	hsa-miR-548b-5p	CLIP-seq
MIRT1411170	hsa-miR-548c-5p	CLIP-seq
MIRT1411171	hsa-miR-548d-5p	CLIP-seq
MIRT1411172	hsa-miR-548h	CLIP-seq
MIRT1411173	hsa-miR-548i	CLIP-seq
MIRT1411174	hsa-miR-548j	CLIP-seq
MIRT1411175	hsa-miR-548k	CLIP-seq
MIRT1411176	hsa-miR-548l	CLIP-seq
MIRT1411177	hsa-miR-548p	CLIP-seq
MIRT1411178	hsa-miR-548w	CLIP-seq
MIRT1411179	hsa-miR-548y	CLIP-seq
MIRT1411180	hsa-miR-554	CLIP-seq
MIRT1411181	hsa-miR-559	CLIP-seq
MIRT1411182	hsa-miR-616	CLIP-seq
MIRT1411183	hsa-miR-619	CLIP-seq
MIRT1411104	hsa-miR-1207-5p	CLIP-seq
MIRT1411110	hsa-miR-1321	CLIP-seq
MIRT1411116	hsa-miR-3159	CLIP-seq
MIRT1411128	hsa-miR-4270	CLIP-seq
MIRT1411133	hsa-miR-4441	CLIP-seq
MIRT1411135	hsa-miR-4481	CLIP-seq
MIRT1411151	hsa-miR-4739	CLIP-seq
MIRT1411152	hsa-miR-4745-5p	CLIP-seq
MIRT1411154	hsa-miR-4756-5p	CLIP-seq
MIRT1411155	hsa-miR-4763-3p	CLIP-seq
MIRT2123445	hsa-miR-4768-5p	CLIP-seq
MIRT2123446	hsa-miR-541	CLIP-seq
MIRT2123447	hsa-miR-654-5p	CLIP-seq
MIRT2345505	hsa-miR-2110	CLIP-seq
MIRT2345506	hsa-miR-4271	CLIP-seq
MIRT2345507	hsa-miR-4667-5p	CLIP-seq
MIRT2345508	hsa-miR-4700-5p	CLIP-seq
MIRT2345509	hsa-miR-4725-3p	CLIP-seq
MIRT2345510	hsa-miR-4731-5p	CLIP-seq
MIRT2638468	hsa-miR-4635	CLIP-seq
MIRT2638469	hsa-miR-4765	CLIP-seq
MIRT2638469	hsa-miR-4765	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
IRF1	Unknown	18694960
NFKB1	Unknown	18694960
RELA	Unknown	18694960

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001913	Process	T cell mediated cytotoxicity	IEA
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	IEA
GO:0002237	Process	Response to molecule of bacterial origin	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002481	Process	Antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent	IEA
GO:0002485	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent	IEA
GO:0002489	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent	IEA
GO:0002489	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent	IMP	1538751
GO:0002502	Process	Peptide antigen assembly with MHC class I protein complex	IDA	36104323
GO:0005515	Function	Protein binding	IPI	9427624, 12213826, 15793001, 16828748, 17055437, 18802093, 19201886, 19297616, 26789246, 28514442, 33961781
GO:0005524	Function	ATP binding	IDA	7673167
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	15793001
GO:0005783	Component	Endoplasmic reticulum	IDA	22638925
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	7673167, 22638925
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0015433	Function	ABC-type peptide antigen transporter activity	IDA	25377891
GO:0015433	Function	ABC-type peptide antigen transporter activity	IGI	7673167
GO:0015433	Function	ABC-type peptide antigen transporter activity	IMP	1538751, 25656091
GO:0015440	Function	ABC-type peptide transporter activity	IBA
GO:0015440	Function	ABC-type peptide transporter activity	IEA
GO:0015833	Process	Peptide transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	8955196
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IDA	8496691
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IMP	1538751
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	NAS	12748171
GO:0023029	Function	MHC class Ib protein binding	IPI	10605026
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0042287	Function	MHC protein binding	IEA
GO:0042605	Function	Peptide antigen binding	IDA	7500034
GO:0042824	Component	MHC class I peptide loading complex	IBA
GO:0042824	Component	MHC class I peptide loading complex	IDA	17947644
GO:0042825	Component	TAP complex	IDA	15518576, 17947644
GO:0042825	Component	TAP complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046967	Process	Cytosol to endoplasmic reticulum transport	IMP	7538543
GO:0046968	Process	Peptide antigen transport	IDA	8496691
GO:0046968	Process	Peptide antigen transport	IMP	1538751
GO:0046978	Function	TAP1 binding	IEA
GO:0046978	Function	TAP1 binding	IPI	1538751, 15518576
GO:0046980	Function	Tapasin binding	ISS
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1904680	Function	Peptide transmembrane transporter activity	IEA
GO:1904680	Function	Peptide transmembrane transporter activity	IGI	7673167

MIM	HGNC	e!Ensembl
170261	44	ENSG00000204267

Q03519

Protein name

Antigen peptide transporter 2 (APT2) (EC 7.4.2.14) (ATP-binding cassette sub-family B member 3) (Peptide supply factor 2) (Peptide transporter PSF2) (PSF-2) (Peptide transporter TAP2) (Peptide transporter involved in antigen processing 2) (Really interest

Protein function

ABC transporter associated with antigen processing. In complex with TAP1 mediates unidirectional translocation of peptide antigens from cytosol to endoplasmic reticulum (ER) for loading onto MHC class I (MHCI) molecules (PubMed:25377891, PubMed:

PDB

5U1D , 8T46 , 8T4E , 8T4F , 8T4G , 8T4H , 8T4I , 8T4J

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00664	ABC_membrane	152 → 421	ABC transporter transmembrane region	Family
PF00005	ABC_tran	486 → 635	ABC transporter	Domain

Sequence

MRLPDLRPWTSLLLVDAALLWLLQGPLGTLLPQGLPGLWLEGTLRLGGLWGLLKLRGLLG
FVGTLLLPLCLATPLTVSLRALVAGASRAPPARVASAPWSWLLVGYGAAGLSWSLWAVLS
PPGAQEKEQDQVNNKVLMWRLLKLSRPDLPLLVAAFFFLVLAVLGETLIPHYSGRVIDIL
GGDFDPHAFASAIFFMCLFSFGSSLSAGCRGGCFTYTMSRINLRIREQLFSSLLRQDLGF
FQETKTGELNSRLSSDTTLMSNWLPLNANVLLRSLVKVVGLYGFMLSISPRLTLLSLLHM
PFTIAAEKVYNTRHQEVLREIQDAVARAGQVVREAVGGLQTVRSFGAEEHEVCRYKEALE
QCRQLYWRRDLERALYLLVRRVLHLGVQMLMLSCGLQQMQDGELTQGSLLSFMIYQESVG
SYVQTLVYIYGDMLSNVGAAEKVFSYMDRQPNLPSPGTLAPTTLQGVVKFQDVSFAYPNR
PDRPVLKGLTFTLRPGEVTALVGPNGSGKSTVAALLQNLYQPTGGQVLLDEKPISQYEHC
YLHSQVVSVGQEPVLFSGSVRNNIAYGLQSCEDDKVMAAAQAAHADDFIQEMEHGIYTDV
GEKGSQLAAGQKQRLAIARALVRDPRVLILDEATSALDVQCEQALQDWNSRGDRTVLVIA
HRLQTVQRAHQILVLQEGKLQKLAQL

Sequence length

686

Interactions

View interactions

455

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
MHC class I deficiency	Pathogenic; Likely pathogenic	rs2127363263, rs781370484, rs2127367115, rs2127367497, rs1769133149, rs142794316, rs1769342165, rs763365550, rs2483018539, rs2483045582, rs1455526809, rs2483031868, rs1768957914, rs771932254, rs755005828 View all (5 more)	RCV002035511 RCV001958966 RCV002000304 RCV001951235 RCV001955789 RCV003060033 RCV003088191 RCV002614758 RCV002806877 RCV002885234 RCV002979017 RCV003226715 RCV000014731 RCV003508649 RCV003508833 RCV003620609 RCV003621035 RCV003873413 RCV000642359 RCV000692107 RCV000768380
MHC class I deficiency 2	Pathogenic	rs2127367497, rs61736923, rs1768957914	RCV004556093 RCV004556049 RCV006249882

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2071467	RCV005909484
Cervical cancer	Benign	rs2857105, rs9461814	RCV005937293 RCV005903346
Cholangiocarcinoma	Benign	rs2071467, rs2857105	RCV005909488 RCV005937298
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs200922606, rs9461814	RCV005867085 RCV005903347
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1210574302	RCV004557978
Gastric cancer	Benign	rs241449	RCV005898385
Malignant lymphoma, large B-cell, diffuse	Benign	rs2071467, rs2857105, rs2228397	RCV005909485 RCV005937295 RCV005897349
Malignant tumor of esophagus	Benign	rs2857105	RCV005937292
Melanoma	Benign	rs2857105	RCV005937297
MHC class I deficiency 1	Uncertain significance	rs138708621, rs78328107	RCV005630328 RCV005225212
Nonpapillary renal cell carcinoma	Benign	rs200922606	RCV005867084
Ovarian serous cystadenocarcinoma	Uncertain significance	rs1800454	RCV005928390
TAP2 POLYMORPHISM	Benign	rs1800454, rs241447, rs241448	RCV004991973 RCV004991974 RCV004991975
TAP2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs374476450, rs750188023, rs2071467, rs547573518, rs1769342430, rs2857105, rs61021012, rs2229527, rs16870908, rs142794316, rs2856992, rs111303994, rs149495208, rs201974007, rs143726288 View all (8 more)	RCV003948414 RCV004757454 RCV003980578 RCV003903445 RCV003898790 RCV003984482 RCV003933824 RCV003970270 RCV003972745 RCV003979988 RCV003983116 RCV003979986 RCV003979987 RCV003937942 RCV003980245 RCV003978155 RCV003970669 RCV003928489 RCV003910384 RCV003970481 RCV003977989 RCV003978156 RCV003970670
Thymoma	Benign	rs2071467	RCV005909487
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs1800454	RCV005928391
Uterine carcinosarcoma	Benign	rs2071467, rs2857105, rs241449	RCV005909486 RCV005937296 RCV005898386
Uterine corpus endometrial carcinoma	Benign	rs2071467	RCV005909489
Uveal melanoma	Benign	rs2857105	RCV005937294

Show/Hide Text Mining Associations (67)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	20865050
Agranulocytosis	Associate	28931918
Arthritis Rheumatoid	Associate	26686423
Asthma	Associate	32867763, 35597955
Autoimmune Diseases	Associate	18851734, 19263211, 21682861, 24175803
Bare Lymphocyte Syndrome Type I	Associate	10074494, 10074495
Bites Human	Associate	11529920
Breast Neoplasms	Associate	29091951, 29552773
Calcinosis Cutis	Inhibit	10079252
Carcinogenesis	Inhibit	37986152
Carcinoma	Associate	39249578
Carcinoma Non Small Cell Lung	Associate	40091029
Carcinoma Squamous Cell	Inhibit	23024775
Chordoma	Associate	39249578
Cognitive Dysfunction	Associate	17903520
Colorectal Neoplasms	Associate	22072317
Dermatomyositis	Associate	39447013
Drug Hypersensitivity Syndrome	Associate	37306379
Epstein Barr Virus Infections	Associate	8764046
Esophageal Squamous Cell Carcinoma	Associate	25556465
Gastrointestinal Stromal Tumors	Associate	39249578
Glioblastoma	Associate	26313662
Granulomatous Disease Chronic	Associate	16037391
Graves Disease	Associate	16721835
Hematologic Neoplasms	Associate	24175803
Hereditary leiomyomatosis and renal cell cancer	Associate	9680372, 9746788
HIV Infections	Associate	31732831
Hyperoxia	Stimulate	29155844
Hypoxia	Inhibit	29155844
Immunologic Deficiency Syndromes	Associate	11529920
Inflammation	Associate	26448050
Influenza Human	Associate	33138079
Leukemia Lymphocytic Chronic B Cell	Associate	24175803
Leukemia Lymphoid	Associate	24175803
Lung Neoplasms	Associate	40091029
Lupus Erythematosus Systemic	Associate	12634240, 19387463, 26686423, 9709177
Lymphoma B Cell	Associate	26448050
Lymphoma Follicular	Associate	22911334
Lymphoma Large B Cell Diffuse	Associate	22911334
Lymphoma Non Hodgkin	Stimulate	22911334
Lymphoma Non Hodgkin	Associate	22911334
Malocclusion Angle Class I	Associate	10074494
Melanoma	Inhibit	10079252
Melanoma	Associate	18385764
Multiple Myeloma	Associate	9266943
Myasthenia Gravis	Associate	18851734
Neoplasm Metastasis	Inhibit	37986152
Neoplasms	Inhibit	16855371, 37986152
Neoplasms	Associate	18519766, 24175803, 26611618, 29091951, 36521927, 36619767, 40091029
Neuroblastoma	Associate	36521927
Nevus	Inhibit	10079252
Ototoxicity	Associate	28931918
Pemphigus	Associate	29857070
Prostatic Neoplasms	Inhibit	19820934
Prostatic Neoplasms	Associate	7707419
Rhinitis Allergic	Associate	17982230
Sjogren's Syndrome	Associate	26686423
Small Cell Lung Carcinoma	Associate	29020964
Squamous Cell Carcinoma of Head and Neck	Associate	21207025
Stomach Neoplasms	Associate	11513878
Tuberculosis Pulmonary	Associate	26996113, 33736739
Urethral Neoplasms	Inhibit	19756593
Uterine Cervical Dysplasia	Inhibit	23024775
Uterine Cervical Neoplasms	Associate	11673561, 23024775, 25796583
Uterine Cervical Neoplasms	Stimulate	37986152
Uterine Cervicitis	Associate	36619767
Virus Diseases	Associate	24175803

TAP2 (transporter 2, ATP binding cassette subfamily B member)