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Gene

TFAP2B

transcription factor AP-2 beta

Summary

Cytogenetic location
6p12.3
Coordinates
Chromosome 6: 50,818,871–50,847,619 (GRCh38)
Exons
7 exons across 28.7 kb
Protein
460 amino acids
Inheritance
Autosomal dominant
Also known as
AP2-B, AP-2beta
MANE Select transcript
ENST00000393655.4NM_003221.4
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

    • TFAP2B-Related Congenital Heart Disease (Char Syndrome)Autosomal dominant

      A condition caused by changes in TFAP2B that causes patent ductus arteriosus, sometimes with distinctive facial features and hand differences.

      • ClinGen rates the link definitive
      • 4 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 TFAP2B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 6, with a bracket where TFAP2B sits. TFAP2B and 1 gene near it on chromosome 6, from 50,333,245 to 51,333,244.Chromosome 66p12.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2750.4 Mb50.6 Mb50.8 Mb51 Mb51.2 MbTFAP2D: 50,713,526–50,773,033, forward strandTFAP2DTFAP2B: 50,818,871–50,847,619, forward strandTFAP2BDiagram of TFAP2B: 7 exons on the forward strand of chromosome 6Exon 4: 3 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 1: 50,818,871–50,818,972, 102 basesExon 2: 50,823,407–50,823,865, 459 basesExon 3: 50,828,619–50,828,679, 61 basesExon 4: 50,836,061–50,836,280, 220 basesExon 5: 50,837,975–50,838,093, 119 basesExon 6: 50,840,156–50,840,297, 142 basesExon 7: 50,843,092–50,847,619, 4,528 bases12345675′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 28.7 kb; 1,383 of those bases code for the protein.

How a genome test reads TFAP2B

7

positions in TFAP2B 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 28.7 kb of TFAP2B, 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.). TFAP2B gene: transcription factor AP-2 beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/tfap2b

Vancouver

Dante Labs. TFAP2B gene: transcription factor AP-2 beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tfap2b

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