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Gene

TCF4

transcription factor 4

Summary

Cytogenetic location
18q21.2
Coordinates
Chromosome 18: 55,222,185–55,588,192 (GRCh38)
Exons
20 exons across 366 kb
Protein
671 amino acids
Inheritance
Autosomal dominant
Also known as
SEF2-1B, ITF2, bHLHb19, E2-2
MANE Select transcript
ENST00000354452.8NM_001083962.2
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

  • Hereditary Corneal Dystrophies

    • Corneal Dystrophy

      A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.

  • Intellectual Disability

    • Pitt-Hopkins syndromeAutosomal dominant

      A condition caused by variants in TCF4 that causes intellectual disability, breathing irregularities and distinctive facial features.

      • 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 TCF4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 18, with a bracket where TCF4 sits. TCF4 and 2 genes near it on chromosome 18, from 54,856,177 to 55,954,200.Chromosome 1818q21.2p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2355 Mb55.2 Mb55.4 Mb55.6 Mb55.8 MbRAB27B: 54,717,857–54,895,516, forward strandRAB27BCCDC68: 54,901,027–54,959,519, reverse strandCCDC68TCF4: 55,222,185–55,588,192, reverse strandTCF4Diagram of TCF4: 20 exons on the reverse strand of chromosome 18Exon 19: 5 known disease-causing sitesExon 18: 42 known disease-causing sitesExon 17: 13 known disease-causing sitesExon 16: 11 known disease-causing sitesExon 15: 13 known disease-causing sitesExon 14: 7 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 20: 55,222,185–55,228,030, 5,846 basesExon 19: 55,228,221–55,228,361, 141 bases. 3 variants with a page in exon 19. List themExon 18: 55,228,847–55,229,076, 230 bases. 9 variants with a page in exon 18. List themExon 17: 55,232,509–55,232,671, 163 basesExon 16: 55,234,548–55,234,683, 136 bases. 1 variant with a page in exon 16. List themExon 15: 55,254,497–55,254,700, 204 basesExon 14: 55,257,315–55,257,391, 77 bases. 1 variant with a page in exon 14. List themExon 13: 55,259,949–55,260,027, 79 basesExon 12: 55,261,466–55,261,533, 68 bases. 1 variant with a page in exon 12. List themExon 11: 55,269,831–55,269,963, 133 basesExon 10: 55,275,619–55,275,752, 134 bases. 1 variant with a page in exon 10. List themExon 9: 55,279,551–55,279,656, 106 basesExon 8: 55,350,359–55,350,408, 50 basesExon 7: 55,350,874–55,351,003, 130 basesExon 6: 55,403,454–55,403,518, 65 basesExon 5: 55,461,019–55,461,115, 97 basesExon 4: 55,464,076–55,464,137, 62 basesExon 3: 55,585,280–55,585,352, 73 basesExon 2: 55,587,045–55,587,136, 92 basesExon 1: 55,588,038–55,588,192, 155 bases201510515′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 8 kb of the gene's 366 kb; 2,016 of those bases code for the protein.

How a genome test reads TCF4

176

positions in TCF4 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 366 kb of TCF4, introns included, not only the 8 kb of exons.

Variants with a page (16)

The TCF4 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
c.990G>AExon 1255,261,466Pathogenic3 stars out of 4 reviewed by expert panel
G496Cc.1486G>TExon 1655,234,548Likely pathogenic3 stars out of 4 reviewed by expert panel
G592Sc.1774G>AExon 1855,228,952Likely pathogenic3 stars out of 4 reviewed by expert panel
G656Rfs*55c.1965dupExon 1955,228,275Pathogenic3 stars out of 4 reviewed by expert panel
L609Pc.1826T>CExon 1855,228,900Likely pathogenic3 stars out of 4 reviewed by expert panel
Q670Hfs*40c.2010_2011delExon 1955,228,229Pathogenic3 stars out of 4 reviewed by expert panel
R576Qc.1727G>AExon 1855,228,999Pathogenic3 stars out of 4 reviewed by expert panel
R578Hc.1733G>AExon 1855,228,993Pathogenic3 stars out of 4 reviewed by expert panel
R580Qc.1739G>AExon 1855,228,987Pathogenic3 stars out of 4 reviewed by expert panel
R580Wc.1738C>TExon 1855,228,988Pathogenic3 stars out of 4 reviewed by expert panel

See all 16 TCF4 variants →

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.). TCF4 gene: transcription factor 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/tcf4

Vancouver

Dante Labs. TCF4 gene: transcription factor 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tcf4

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