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

Gene

• Entrez ID: 6891
• Gene name: Transporter 2, ATP binding cassette subfamily B member
• Gene symbol: TAP2
• Synonyms: 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

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)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	TAS
GO:0002479	Process	Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS
GO:0002489	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent	IMP	1538751
GO:0005515	Function	Protein binding	IPI	9427624, 12213826, 15793001, 16828748, 17055437, 18802093, 19201886, 19297616, 26789246, 28514442
GO:0005524	Function	ATP binding	IDA	7673167
GO:0005524	Function	ATP binding	IMP	15793001
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0015433	Function	ABC-type peptide antigen transporter activity	IBA	21873635
GO:0015433	Function	ABC-type peptide antigen transporter activity	IDA	25377891
GO:0015433	Function	ABC-type peptide antigen transporter activity	IMP	1538751, 25656091
GO:0015440	Function	ABC-type peptide transporter activity	IBA	21873635
GO:0015833	Process	Peptide transport	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IDA	8955196
GO:0016032	Process	Viral process	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016887	Function	ATPase activity	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IBA	21873635
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	IMP	1538751
GO:0023029	Function	MHC class Ib protein binding	IPI	10605026
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	7673167, 22638925
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0042288	Function	MHC class I protein binding	IBA	21873635
GO:0042605	Function	Peptide antigen binding	IDA	7500034
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042824	Component	MHC class I peptide loading complex	IBA	21873635
GO:0042824	Component	MHC class I peptide loading complex	IDA	17947644
GO:0042825	Component	TAP complex	IDA	15518576, 17947644
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	IBA	21873635
GO:0046978	Function	TAP1 binding	IPI	1538751, 15518576
GO:0046980	Function	Tapasin binding	ISS
GO:0055085	Process	Transmembrane transport	IBA	21873635
GO:0098656	Process	Anion transmembrane transport	IEA
GO:1904680	Function	Peptide transmembrane transporter activity	IGI	7673167
GO:1990668	Process	Vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane	TAS

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