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Gene

TCF12

transcription factor 12

Summary

Cytogenetic location
15q21.3
Coordinates
Chromosome 15: 56,918,644–57,289,853 (GRCh38)
Exons
21 exons across 371.2 kb
Protein
706 amino acids
Also known as
HEB, HTF4, HsT17266, bHLHb20, p64
MANE Select transcript
ENST00000333725.10NM_207037.2
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 reports relevant to this gene

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • 3 GenCC submitters rate it definitive or strong

  • Syndromic Craniosynostosis

    • Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.

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

      Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.

How TCF12 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where TCF12 sits. TCF12 and 5 genes near it on chromosome 15, from 56,547,434 to 57,661,063.Chromosome 1515q21.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.356.6 Mb56.8 Mb57 Mb57.2 Mb57.4 Mb57.6 MbZNF280D: 56,630,164–56,734,086, reverse strandZNF280D: 56,652,488–56,918,571, reverse strandTCF12: 56,918,644–57,289,853, forward strandTCF12CGNL1: 57,375,967–57,551,742, forward strandCGNL1MYZAP: 57,591,889–57,685,676, forward strandMYZAPGCOM1: 57,591,908–57,714,745, forward strandGCOM1Diagram of TCF12: 21 exons on the forward strand of chromosome 15Exon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 10: 7 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 15: 1 known disease-causing siteExon 16: 3 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 18: 5 known disease-causing sitesExon 19: 7 known disease-causing sitesExon 1: 56,918,644–56,918,906, 263 basesExon 2: 56,919,892–56,919,988, 97 basesExon 3: 56,921,026–56,921,098, 73 basesExon 4: 57,063,750–57,063,823, 74 basesExon 5: 57,091,789–57,091,891, 103 basesExon 6: 57,166,402–57,166,466, 65 basesExon 7: 57,192,158–57,192,293, 136 basesExon 8: 57,197,773–57,197,825, 53 basesExon 9: 57,231,152–57,231,257, 106 basesExon 10: 57,232,291–57,232,430, 140 basesExon 11: 57,232,712–57,232,856, 145 basesExon 12: 57,234,043–57,234,107, 65 basesExon 13: 57,243,472–57,243,550, 79 basesExon 14: 57,251,350–57,251,423, 74 basesExon 15: 57,252,421–57,252,492, 72 basesExon 16: 57,253,262–57,253,468, 207 basesExon 17: 57,262,094–57,262,208, 115 basesExon 18: 57,263,112–57,263,274, 163 basesExon 19: 57,273,030–57,273,262, 233 basesExon 20: 57,282,445–57,282,598, 154 basesExon 21: 57,286,157–57,289,853, 3,697 bases1215′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 6.1 kb of the gene's 371.2 kb; 2,121 of those bases code for the protein.

How a genome test reads TCF12

49

positions in TCF12 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 371.2 kb of TCF12, introns included, not only the 6.1 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.). TCF12 gene: transcription factor 12. Retrieved 17 October 2026, from https://dantelabs.com/genes/tcf12

Vancouver

Dante Labs. TCF12 gene: transcription factor 12 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tcf12

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