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Gene

TGFBR1

transforming growth factor beta receptor 1

Summary

Cytogenetic location
9q22.33
Coordinates
Chromosome 9: 99,105,113–99,154,192 (GRCh38)
Exons
9 exons across 49.1 kb
Protein
503 amino acids
Inheritance
Autosomal dominant
Also known as
ALK-5, ACVRLK4, ALK5, TBRI, TBR-i
Previous symbols
MSSE, ESS1
MANE Select transcript
ENST00000374994.9NM_004612.4
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

  • Aortic Aneurysm

    • Familial Thoracic Aortic Aneurysm and DissectionAutosomal dominant

      Inherited widening and tearing of the thoracic aorta, caused by changes in genes such as ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 and THSD4.

      • 4 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      Knowing about it supports regular aortic imaging, blood pressure control and timely preventive surgery, and screening of relatives.

  • 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.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list

  • 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.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list

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 TGFBR1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Variants with a page
Chromosome 9, with a bracket where TGFBR1 sits. TGFBR1 and 6 genes near it on chromosome 9, from 98,629,653 to 99,629,652.Chromosome 99q22.33p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.398.8 Mb99 Mb99.2 Mb99.4 Mb99.6 MbGABBR2: 98,288,087–98,709,739, reverse strandGABBR2ANKS6: 98,729,898–98,796,965, reverse strandANKS6GALNT12: 98,807,613–98,851,267, forward strandGALNT12COL15A1: 98,942,680–99,071,117, forward strandCOL15A1TGFBR1: 99,105,113–99,154,192, forward strandTGFBR1ALG2: 99,216,425–99,221,992, reverse strandALG2SEC61B: 99,222,064–99,230,696, forward strandSEC61BDiagram of TGFBR1: 9 exons on the forward strand of chromosome 9Exon 1: 4 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 25 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 6: 17 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 9: 10 known disease-causing sitesExon 1: 99,105,113–99,105,302, 190 basesExon 2: 99,128,855–99,129,100, 246 bases. 1 variant with a page in exon 2. List themExon 3: 99,132,509–99,132,739, 231 basesExon 4: 99,137,859–99,138,089, 231 bases. 7 variants with a page in exon 4. List themExon 5: 99,142,536–99,142,703, 168 bases. 4 variants with a page in exon 5. List themExon 6: 99,144,732–99,144,888, 157 bases. 1 variant with a page in exon 6. List themExon 7: 99,146,485–99,146,609, 125 basesExon 8: 99,147,654–99,147,784, 131 basesExon 9: 99,149,180–99,154,192, 5,013 bases. 3 variants with a page in exon 9. List them1234567895′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 6.5 kb of the gene's 49.1 kb; 1,512 of those bases code for the protein.

How a genome test reads TGFBR1

99

positions in TGFBR1 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 49.1 kb of TGFBR1, introns included, not only the 6.5 kb of exons.

Variants with a page (16)

The TGFBR1 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
A202Vc.605C>TExon 499,137,889Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A355Tc.1063G>AExon 699,144,821Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
E227Kc.679G>AExon 499,137,963Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
E228delc.683_685delExon 499,137,961Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
G214Sc.640G>AExon 499,137,924Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
G312Dc.935G>AExon 599,142,665Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
G312Sc.934G>AExon 599,142,664Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
H283Rc.848A>GExon 599,142,578Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
H315Rc.944A>GExon 599,142,674Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
L486Sc.1457T>CExon 999,149,250Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 16 TGFBR1 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.). TGFBR1 gene: transforming growth factor beta receptor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/tgfbr1

Vancouver

Dante Labs. TGFBR1 gene: transforming growth factor beta receptor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tgfbr1

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