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Gene

TAB2

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

Summary

Cytogenetic location
6q25.1
Coordinates
Chromosome 6: 149,317,712–149,411,607 (GRCh38)
Exons
7 exons across 93.9 kb
Protein
693 amino acids
Inheritance
Autosomal dominant
Also known as
KIAA0733
Previous symbols
MAP3K7IP2
MANE Select transcript
ENST00000637181.2NM_001292034.3
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

  • Inherited Congenital Heart Defects

    • TAB2-Related Congenital Heart DiseaseAutosomal dominant

      Congenital heart disease caused by changes in TAB2, with variable valve disease, joint hypermobility, low muscle tone and hearing loss.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How TAB2 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 TAB2 sits. TAB2 and 11 genes near it on chromosome 6, from 148,864,660 to 149,864,659.Chromosome 66q25.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27149 Mb149.2 Mb149.4 Mb149.6 Mb149.8 MbUST: 148,746,895–149,078,419, forward strandUSTTAB2: 149,317,712–149,411,607, forward strandTAB2SUMO4: 149,400,262–149,401,278, forward strandSUMO4ZC3H12D: 149,446,795–149,485,036, reverse strandZC3H12DPPIL4: 149,501,435–149,546,111, reverse strandPPIL4GINM1: 149,566,190–149,591,751, forward strandGINM1KATNA1: 149,594,873–149,648,972, reverse strandKATNA1LATS1: 149,658,153–149,718,261, reverse strandLATS1NUP43: 149,723,373–149,750,286, reverse strandNUP43PCMT1: 149,749,197–149,811,422, forward strandPCMT1LRP11: 149,793,455–149,864,424, reverse strandLRP11: 149,817,937–149,896,011, reverse strandDiagram of TAB2: 7 exons on the forward strand of chromosome 6Exon 3: 31 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 1: 149,317,712–149,318,015, 304 basesExon 2: 149,369,909–149,370,099, 191 basesExon 3: 149,378,018–149,379,518, 1,501 basesExon 4: 149,397,604–149,397,764, 161 basesExon 5: 149,397,969–149,398,062, 94 basesExon 6: 149,399,104–149,399,184, 81 basesExon 7: 149,409,577–149,411,607, 2,031 bases124675′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 4.4 kb of the gene's 93.9 kb; 2,082 of those bases code for the protein.

How a genome test reads TAB2

36

positions in TAB2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 93.9 kb of TAB2, introns included, not only the 4.4 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.). TAB2 gene: TGF-beta activated kinase 1 (MAP3K7) binding protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/tab2

Vancouver

Dante Labs. TAB2 gene: TGF-beta activated kinase 1 (MAP3K7) binding protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tab2

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