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Gene

TGFB3

transforming growth factor beta 3

Summary

Cytogenetic location
14q24.3
Coordinates
Chromosome 14: 75,958,097–75,981,995 (GRCh38)
Exons
7 exons across 23.9 kb
Protein
412 amino acids
Inheritance
Autosomal dominant
Previous symbols
ARVD1, ARVD
MANE Select transcript
ENST00000238682.8NM_003239.5
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

  • Loeys-Dietz Syndrome

    • Autosomal dominant

      Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with five genetic subtypes described forming a clinical continuum.

      • 5 GenCC submitters rate it definitive or strong

  • Marfan Like Syndromes

    • Loeys-Dietz SyndromeAutosomal dominant

      Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with five genetic subtypes described forming a clinical continuum.

      • 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 TGFB3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where TGFB3 sits. TGFB3 and 8 genes near it on chromosome 14, from 75,470,046 to 76,470,045.Chromosome 1414q24.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3375.6 Mb75.8 Mb76 Mb76.2 Mb76.4 MbJDP2: 75,427,716–75,474,111, forward strandJDP2BATF: 75,522,455–75,546,993, forward strandBATFFLVCR2: 75,578,591–75,663,214, forward strandFLVCR2TTLL5: 75,633,625–75,955,084, forward strandTTLL5ERG28: 75,648,079–75,661,570, reverse strandERG28IFT43: 75,902,136–76,084,611, forward strandIFT43TGFB3: 75,958,097–75,981,995, reverse strandTGFB3GPATCH2L: 76,151,905–76,254,342, forward strandGPATCH2LESRRB: 76,310,712–76,501,837, forward strandESRRBDiagram of TGFB3: 7 exons on the reverse strand of chromosome 14Exon 7: 5 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 1: 6 known disease-causing sitesExon 7: 75,958,097–75,959,345, 1,249 basesExon 6: 75,960,923–75,961,076, 154 basesExon 5: 75,963,316–75,963,487, 172 basesExon 4: 75,965,588–75,965,695, 108 basesExon 3: 75,971,126–75,971,255, 130 basesExon 2: 75,971,555–75,971,718, 164 basesExon 1: 75,980,542–75,981,995, 1,454 bases76543215′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 3.4 kb of the gene's 23.9 kb; 1,239 of those bases code for the protein.

How a genome test reads TGFB3

54

positions in TGFB3 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 23.9 kb of TGFB3, introns included, not only the 3.4 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.). TGFB3 gene: transforming growth factor beta 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/tgfb3

Vancouver

Dante Labs. TGFB3 gene: transforming growth factor beta 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tgfb3

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