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Gene

TGFBI

transforming growth factor beta induced

Summary

Cytogenetic location
5q31.1
Coordinates
Chromosome 5: 136,028,988–136,063,818 (GRCh38)
Exons
17 exons across 34.8 kb
Protein
683 amino acids
Also known as
BIGH3, CDB1, CDGG1
Previous symbols
CSD3, LCD1, CSD1, CSD2
MANE Select transcript
ENST00000442011.7NM_000358.3
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

  • 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.

      • 4 GenCC submitters rate 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.

How TGFBI is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where TGFBI sits. TGFBI and 7 genes near it on chromosome 5, from 135,546,403 to 136,546,402.Chromosome 55q31.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3135.6 Mb135.8 Mb136 Mb136.2 Mb136.4 MbSLC25A48: 135,476,913–135,890,730, forward strandSLC25A48CXCL14: 135,570,679–135,579,580, reverse strandCXCL14IL9: 135,892,246–135,895,841, reverse strandIL9LECT2: 135,922,279–135,955,061, reverse strandLECT2TGFBI: 136,028,988–136,063,818, forward strandTGFBISMAD5: 136,132,828–136,188,747, forward strandSMAD5SMIM32: 136,191,468–136,193,162, reverse strandSMIM32TRPC7: 136,212,745–136,365,545, reverse strandTRPC7Diagram of TGFBI: 17 exons on the forward strand of chromosome 5Exon 4: 2 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 1: 136,028,988–136,029,189, 202 basesExon 2: 136,033,763–136,033,861, 99 basesExon 3: 136,044,058–136,044,122, 65 basesExon 4: 136,046,335–136,046,495, 161 basesExon 5: 136,046,851–136,047,015, 165 basesExon 6: 136,047,274–136,047,420, 147 basesExon 7: 136,049,439–136,049,580, 142 basesExon 8: 136,052,907–136,053,119, 213 basesExon 9: 136,053,943–136,054,080, 138 basesExon 10: 136,054,716–136,054,861, 146 basesExon 11: 136,055,680–136,055,816, 137 basesExon 12: 136,056,665–136,056,795, 131 basesExon 13: 136,059,090–136,059,214, 125 basesExon 14: 136,060,834–136,060,936, 103 basesExon 15: 136,061,500–136,061,579, 80 basesExon 16: 136,062,663–136,062,687, 25 basesExon 17: 136,063,186–136,063,818, 633 bases1246810121416175′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 2.7 kb of the gene's 34.8 kb; 2,052 of those bases code for the protein.

How a genome test reads TGFBI

12

positions in TGFBI 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 34.8 kb of TGFBI, introns included, not only the 2.7 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.). TGFBI gene: transforming growth factor beta induced. Retrieved 17 October 2026, from https://dantelabs.com/genes/tgfbi

Vancouver

Dante Labs. TGFBI gene: transforming growth factor beta induced [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tgfbi

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