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

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6891
• Gene name: Transporter 2, ATP binding cassette subfamily B member
• Gene symbol: TAP2
• Synonyms (NCBI Gene): ABC18, ABCB3, APT2, D6S217E, MHC1D2, PSF-2, PSF2, RING11
• 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

SNPs

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

miRNA 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

Transcription factors

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

Gene ontology (GO) 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

Other IDs

• MIM: 170261
• HGNC: 44
• e!Ensembl: ENSG00000204267

Protein

• UniProt ID: 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

Pathways

KEGG Pathway	Reactome Pathway
ABC transporters	ER-Phagosome pathway
Phagosome	Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Antigen processing and presentation
Human cytomegalovirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Primary immunodeficiency

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
MHC class I deficiency	Pathogenic; Likely pathogenic	rs2127363263, rs781370484, rs2127367115, rs2127367497, rs1769133149, rs142794316, rs1769342165, rs763365550, rs2483018539, rs2483045582, rs1455526809, rs2483031868, rs1768957914, rs771932254, rs755005828, rs748019972, rs766586765, rs1222208628, rs1562331529, rs1321880935	RCV002035511 RCV001958966 RCV002000304 RCV001951235 RCV001955789 RCV003060033 RCV003088191 RCV002614758 RCV002806877 RCV002885234 RCV002979017 RCV003226715 RCV000014731 RCV003508649 RCV003508833 RCV003620609 RCV003621035 RCV003873413 RCV000642359 RCV000692107 RCV000768380	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MHC class I deficiency 2	Pathogenic	rs2127367497, rs61736923, rs1768957914	RCV004556093 RCV004556049 RCV006249882	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (58)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	36738649	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	31669095, 37560908	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	31669095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	36738649	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	25936594	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARE LYMPHOCYTE SYNDROME, TYPE I	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	31669095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	35285134	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	39192244	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE SCLERODERMA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHEMATOSQUAMOUS DERMATOSIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	39406924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	34567510	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	38368726, 39789286	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	34076728	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	37377963	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOPROLIFERATIVE SYNDROME 1	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	30643256, 37985818	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MHC class I deficiency 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	37377963	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	30643256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	34290314	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	38757301, 39885523	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIATIC ARTHRITIS	—	GWAS catalog	30552173	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	26272072, 36762574, 37377963, 38368726	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	26651848	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLERODERMA, LIMITED	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STEVENS-JOHNSON SYNDROME	—	GWAS catalog	35122707	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	36762574	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAP2 POLYMORPHISM	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TAP2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC EPIDERMAL NECROLYSIS	—	GWAS catalog	35122707	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	25936594, 33179336, 37377963	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	36738649, 38374256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	34737426	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

TAP1 3 shared diseasesBare lymphocyte syndrome, Diffuse cutaneous systemic sclerosis, MHC class I deficiency 10 shared pathwaysABC transporters, Phagosome, Antigen processing and presentation, Human cytomegalovirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Primary immunodeficiency, Antigen Presentation: Folding, assembly and peptide loading of class I MHC, ER-Phagosome pathway 6 shared evidence sourcesDisgenet (Ankylosing spondylitis), Disgenet (Bare lymphocyte syndrome), Disgenet (Diabetes mellitus type 1), Disgenet (Diffuse cutaneous systemic sclerosis), Disgenet (Psoriasis), ClinGen (MHC class I deficiency) Related via 10 shared pathways including ABC transporters, Phagosome — evidence mostly Disgenet. TAPBP 2 shared diseasesBare lymphocyte syndrome, MHC class I deficiency 7 shared pathwaysAntigen processing and presentation, Human cytomegalovirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Antigen Presentation: Folding, assembly and peptide loading of class I MHC, ER-Phagosome pathway 2 shared evidence sourcesDisgenet (Bare lymphocyte syndrome), ClinGen (MHC class I deficiency) Related via 7 shared pathways including Antigen processing and presentation, Human cytomegalovirus infection — evidence mostly Disgenet. HLA-F 3 shared diseasesPsoriatic arthritis, Stevens-johnson syndrome, Toxic epidermal necrolysis 8 shared pathwaysPhagosome, Antigen processing and presentation, Human cytomegalovirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Antigen Presentation: Folding, assembly and peptide loading of class I MHC, ER-Phagosome pathway 3 shared evidence sourcesGWAS catalog (Psoriatic arthritis), GWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 8 shared pathways including Phagosome, Antigen processing and presentation — evidence mostly GWAS catalog. HLA-C 5 shared diseasesPsoriatic arthritis, Hyperthyroidism, Sarcoidosis, Stevens-johnson syndrome, Toxic epidermal necrolysis 8 shared pathwaysPhagosome, Antigen processing and presentation, Human cytomegalovirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Antigen Presentation: Folding, assembly and peptide loading of class I MHC, ER-Phagosome pathway 5 shared evidence sourcesGWAS catalog (Hyperthyroidism), GWAS catalog (Psoriatic arthritis), GWAS catalog (Sarcoidosis), GWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 8 shared pathways including Phagosome, Antigen processing and presentation — evidence mostly GWAS catalog. BAG6 5 shared diseasesPsoriatic arthritis, Dental caries, Sarcoidosis, Stevens-johnson syndrome, Toxic epidermal necrolysis 5 shared evidence sourcesGWAS catalog (Dental caries), GWAS catalog (Psoriatic arthritis), GWAS catalog (Sarcoidosis), GWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 5 shared diseases including Psoriatic arthritis, Dental caries — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TAP1	3	["Bare lymphocyte syndrome","Diffuse cutaneous systemic sclerosis","MHC class I deficiency"]	10	["ABC transporters","Phagosome","Antigen processing and presentation","Human cytomegalovirus infection","Herpes simplex virus 1 infection","Epstein-Barr virus infection","Human immunodeficiency virus 1 infection","Primary immunodeficiency","Antigen Presentation: Folding, assembly and peptide loading of class I MHC","ER-Phagosome pathway"]	6	["Disgenet (Ankylosing spondylitis)","Disgenet (Bare lymphocyte syndrome)","Disgenet (Diabetes mellitus type 1)","Disgenet (Diffuse cutaneous systemic sclerosis)","Disgenet (Psoriasis)","ClinGen (MHC class I deficiency)"]
TAPBP	2	["Bare lymphocyte syndrome","MHC class I deficiency"]	7	["Antigen processing and presentation","Human cytomegalovirus infection","Herpes simplex virus 1 infection","Epstein-Barr virus infection","Human immunodeficiency virus 1 infection","Antigen Presentation: Folding, assembly and peptide loading of class I MHC","ER-Phagosome pathway"]	2	["Disgenet (Bare lymphocyte syndrome)","ClinGen (MHC class I deficiency)"]
HLA-F	3	["Psoriatic arthritis","Stevens-johnson syndrome","Toxic epidermal necrolysis"]	8	["Phagosome","Antigen processing and presentation","Human cytomegalovirus infection","Herpes simplex virus 1 infection","Epstein-Barr virus infection","Human immunodeficiency virus 1 infection","Antigen Presentation: Folding, assembly and peptide loading of class I MHC","ER-Phagosome pathway"]	3	["GWAS catalog (Psoriatic arthritis)","GWAS catalog (Stevens-johnson syndrome)","GWAS catalog (Toxic epidermal necrolysis)"]
HLA-C	5	["Psoriatic arthritis","Hyperthyroidism","Sarcoidosis","Stevens-johnson syndrome","Toxic epidermal necrolysis"]	8	["Phagosome","Antigen processing and presentation","Human cytomegalovirus infection","Herpes simplex virus 1 infection","Epstein-Barr virus infection","Human immunodeficiency virus 1 infection","Antigen Presentation: Folding, assembly and peptide loading of class I MHC","ER-Phagosome pathway"]	5	["GWAS catalog (Hyperthyroidism)","GWAS catalog (Psoriatic arthritis)","GWAS catalog (Sarcoidosis)","GWAS catalog (Stevens-johnson syndrome)","GWAS catalog (Toxic epidermal necrolysis)"]
BAG6	5	["Psoriatic arthritis","Dental caries","Sarcoidosis","Stevens-johnson syndrome","Toxic epidermal necrolysis"]	0	[]	5	["GWAS catalog (Dental caries)","GWAS catalog (Psoriatic arthritis)","GWAS catalog (Sarcoidosis)","GWAS catalog (Stevens-johnson syndrome)","GWAS catalog (Toxic epidermal necrolysis)"]

Diseases Linked via Similar Genes

Interstitial cystitis Linked via 2 of 5 related genesTAPBP, HLA-C Colorectal cancer Linked via 2 of 5 related genesHLA-F, HLA-C Gastric cancer Linked via 2 of 5 related genesHLA-F, HLA-C Prostate cancer Linked via 2 of 5 related genesHLA-F, HLA-C Irritable bowel syndrome Linked via 2 of 5 related genesHLA-C, BAG6

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Interstitial cystitis	2	["TAPBP","HLA-C"]
Colorectal cancer	2	["HLA-F","HLA-C"]
Gastric cancer	2	["HLA-F","HLA-C"]
Prostate cancer	2	["HLA-F","HLA-C"]
Irritable bowel syndrome	2	["HLA-C","BAG6"]