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Gene

TGFB1

transforming growth factor beta 1

Summary

Cytogenetic location
19q13.2
Coordinates
Chromosome 19: 41,330,323–41,353,922 (GRCh38)
Exons
7 exons across 23.6 kb
Protein
390 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
CED, TGFbeta
Previous symbols
TGFB, DPD1
MANE Select transcript
ENST00000221930.6NM_000660.7
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

  • Inflammatory Bowel Diseases (IBD)

    • Inflammatory bowel disease, immunodeficiency, and encephalopathyAutosomal recessive

      A very-early-onset form of inflammatory bowel disease caused by biallelic TGFB1 variants, with immune deficiency and brain involvement.

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

      Recognising a monogenic cause of infantile-onset bowel inflammation informs immune evaluation and treatment choices, including consideration of stem cell transplant.

  • Sclerosing Bone Dysplasias (High Bone Mass)

    • Camurati-Engelmann diseaseAutosomal dominant

      A condition caused by TGFB1 variants in which the shafts of the long bones thicken, causing limb pain, muscle weakness and tiredness.

      • 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.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How TGFB1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where TGFB1 sits. TGFB1 and 27 genes near it on chromosome 19, from 40,842,123 to 41,842,122.Chromosome 1919q13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4341 Mb41.2 Mb41.4 Mb41.6 Mb41.8 MbEGLN2: 40,798,996–40,857,708, forward strandEGLN2: 40,801,297–40,898,282, forward strandCYP2A6: 40,841,915–40,850,493, reverse strandCYP2A6CYP2A7: 40,873,525–40,882,752, reverse strandCYP2A7CYP2B6: 40,991,131–41,018,413, forward strandCYP2B6CYP2A13: 41,088,451–41,096,195, forward strandCYP2A13CYP2F1: 41,114,432–41,128,381, forward strandCYP2F1CYP2S1: 41,192,911–41,207,540, forward strandCYP2S1AXL: 41,218,934–41,261,766, forward strandAXLHNRNPUL1: 41,262,496–41,307,787, forward strandHNRNPUL1CCDC97: 41,310,149–41,334,014, forward strandCCDC97TGFB1: 41,330,323–41,353,922, reverse strandTGFB1: 41,350,853–41,425,001, forward strandTMEM91: 41,350,885–41,384,742, forward strandTMEM91B9D2: 41,354,417–41,364,165, reverse strandB9D2EXOSC5: 41,367,173–41,397,441, reverse strandBCKDHA: 41,397,792–41,425,092, forward strandB3GNT8: 41,422,878–41,428,730, reverse strandB3GNT8DMAC2: 41,431,317–41,440,717, reverse strandDMAC2ERICH4: 41,443,152–41,444,765, forward strandCEACAM21: 41,549,518–41,586,844, forward strandCEACAM21CEACAM4: 41,619,014–41,627,082, reverse strandCEACAM4CEACAM7: 41,666,629–41,706,976, reverse strandCEACAM7CEACAM5: 41,708,585–41,730,519, forward strandCEACAM5: 41,708,657–41,756,737, forward strandCEACAM6: 41,750,977–41,772,211, forward strandCEACAM6CEACAM3: 41,796,587–41,811,557, forward strandCEACAM3LYPD4: 41,837,073–41,844,718, reverse strandLYPD4Diagram of TGFB1: 7 exons on the reverse strand of chromosome 19Exon 7: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 2 known disease-causing sitesExon 7: 41,330,323–41,331,210, 888 basesExon 6: 41,332,128–41,332,281, 154 basesExon 5: 41,341,883–41,342,030, 148 basesExon 4: 41,342,170–41,342,247, 78 basesExon 3: 41,344,747–41,344,864, 118 basesExon 2: 41,348,295–41,348,455, 161 basesExon 1: 41,352,690–41,353,922, 1,233 bases764215′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 2.8 kb of the gene's 23.6 kb; 1,173 of those bases code for the protein.

How a genome test reads TGFB1

7

positions in TGFB1 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 23.6 kb of TGFB1, introns included, not only the 2.8 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.). TGFB1 gene: transforming growth factor beta 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/tgfb1

Vancouver

Dante Labs. TGFB1 gene: transforming growth factor beta 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tgfb1

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