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Gene

TAP2

transporter 2, ATP binding cassette subfamily B member

Summary

Cytogenetic location
6p21.32
Coordinates
Chromosome 6: 32,825,415–32,838,739 (GRCh38)
Exons
12 exons across 13.3 kb
Protein
686 amino acids
Also known as
PSF2, RING11, D6S217E
Previous symbols
ABCB3
MANE Select transcript
ENST00000374897.4NM_001290043.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Other Inborn Errors of Immunity

      • Immunodeficiency Disease

        One of 170 genes linked to it

        Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

    How TAP2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 6, with a bracket where TAP2 sits. TAP2 and 37 genes near it on chromosome 6, from 32,332,077 to 33,332,076.Chromosome 66p21.32p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2732.4 Mb32.6 Mb32.8 Mb33 Mb33.2 MbTSBP1: 32,288,526–32,371,907, reverse strandTSBP1BTNL2: 32,391,481–32,407,181, reverse strandBTNL2HLA-DRA: 32,439,870–32,445,181, forward strandHLA-DRAHLA-DRB5: 32,516,622–32,530,369, reverse strandHLA-DRB5HLA-DRB1: 32,577,902–32,589,848, reverse strandHLA-DRB1HLA-DQA1: 32,628,179–32,659,533, forward strandHLA-DQA1HLA-DQB1: 32,640,622–32,668,383, reverse strandHLA-DQB1HLA-DQA2: 32,741,391–32,747,198, forward strandHLA-DQA2HLA-DQB2: 32,756,094–32,763,563, reverse strandHLA-DQB2HLA-DOB: 32,812,763–32,820,466, reverse strandHLA-DOB: 32,813,767–32,838,822, reverse strandTAP2: 32,825,415–32,838,739, reverse strandTAP2PSMB8: 32,840,717–32,844,679, reverse strandPSMB8PSMB9: 32,844,136–32,882,881, forward strandTAP1: 32,845,204–32,854,026, reverse strandHLA-DMB: 32,929,338–32,941,490, reverse strandHLA-DMB: 32,937,364–32,953,122, reverse strandHLA-DMA: 32,948,613–32,969,094, reverse strandHLA-DMABRD2: 32,968,564–32,981,505, forward strandBRD2HLA-DOA: 33,004,178–33,009,617, reverse strandHLA-DOAHLA-DPA1: 33,064,569–33,080,781, reverse strandHLA-DPA1HLA-DPB1: 33,073,786–33,091,655, forward strandHLA-DPB1COL11A2: 33,162,681–33,192,802, reverse strandCOL11A2RXRB: 33,193,585–33,200,693, reverse strandRXRBSLC39A7: 33,200,305–33,204,439, forward strandSLC39A7HSD17B8: 33,204,631–33,206,831, forward strandHSD17B8RING1: 33,208,033–33,212,722, forward strandVPS52: 33,250,272–33,272,047, reverse strandVPS52RPS18: 33,271,730–33,276,513, forward strandRPS18B3GALT4: 33,277,123–33,284,832, forward strandB3GALT4WDR46: 33,279,103–33,289,523, reverse strandWDR46PFDN6: 33,288,680–33,298,441, forward strandRGL2: 33,291,180–33,299,534, reverse strandTAPBP: 33,299,694–33,314,284, reverse strandZBTB22: 33,314,406–33,318,021, reverse strandDAXX: 33,318,558–33,323,259, reverse strand: 33,321,386–33,329,286, reverse strandSMIM40: 33,323,628–33,329,279, reverse strandDiagram of TAP2: 12 exons on the reverse strand of chromosome 6Exon 11: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 12: 32,825,415–32,829,034, 3,620 basesExon 11: 32,829,400–32,829,536, 137 basesExon 10: 32,829,930–32,830,089, 160 basesExon 9: 32,830,267–32,830,440, 174 basesExon 8: 32,830,618–32,830,806, 189 basesExon 7: 32,832,333–32,832,461, 129 basesExon 6: 32,832,627–32,832,824, 198 basesExon 5: 32,835,154–32,835,359, 206 basesExon 4: 32,835,643–32,835,773, 131 basesExon 3: 32,837,537–32,837,651, 115 basesExon 2: 32,837,741–32,838,237, 497 basesExon 1: 32,838,653–32,838,739, 87 bases1211109876543215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 5.6 kb of the gene's 13.3 kb; 2,061 of those bases code for the protein.

    How a genome test reads TAP2

    25

    positions in TAP2 where ClinVar classes a change as pathogenic or likely pathogenic

    25 of them (100%) fall in regions short reads find hard.

    • MHC (25 sites)The major histocompatibility complex (HLA genes), highly polymorphic and poorly represented by a single reference.

    A whole genome covers all 13.3 kb of TAP2, introns included, not only the 5.6 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). TAP2 gene: transporter 2, ATP binding cassette subfamily B member. Retrieved 16 October 2026, from https://dantelabs.com/genes/tap2

    Vancouver

    Dante Labs. TAP2 gene: transporter 2, ATP binding cassette subfamily B member [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tap2

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