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Gene

TGFBR2

transforming growth factor beta receptor 2

Summary

Cytogenetic location
3p24.1
Coordinates
Chromosome 3: 30,606,601–30,694,142 (GRCh38)
Exons
7 exons across 87.5 kb
Protein
567 amino acids
Inheritance
Autosomal dominant
Also known as
TBRII, TBR-ii
Previous symbols
MFS2
MANE Select transcript
ENST00000295754.10NM_003242.6
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.

      • ClinGen rates the link definitive
      • 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
      • 4 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
      • 4 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 TGFBR2 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 3, with a bracket where TGFBR2 sits. TGFBR2 and 1 gene near it on chromosome 3, from 30,150,372 to 31,150,371.Chromosome 33p24.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2930.2 Mb30.4 Mb30.6 Mb30.8 Mb31 MbTGFBR2: 30,606,601–30,694,142, forward strandTGFBR2GADL1: 30,726,197–30,894,897, reverse strandGADL1Diagram of TGFBR2: 7 exons on the forward strand of chromosome 3Exon 2: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 4: 35 known disease-causing sitesExon 5: 28 known disease-causing sitesExon 6: 11 known disease-causing sitesExon 7: 26 known disease-causing sitesExon 1: 30,606,601–30,606,977, 377 basesExon 2: 30,644,747–30,644,915, 169 basesExon 3: 30,650,270–30,650,460, 191 basesExon 4: 30,671,638–30,672,437, 800 bases. 5 variants with a page in exon 4. List themExon 5: 30,674,105–30,674,246, 142 bases. 5 variants with a page in exon 5. List themExon 6: 30,688,384–30,688,511, 128 bases. 5 variants with a page in exon 6. List themExon 7: 30,691,420–30,694,142, 2,723 bases. 7 variants with a page in exon 7. List them12345675′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 4.5 kb of the gene's 87.5 kb; 1,704 of those bases code for the protein.

How a genome test reads TGFBR2

107

positions in TGFBR2 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 87.5 kb of TGFBR2, introns included, not only the 4.5 kb of exons.

Variants with a page (23)

The TGFBR2 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
A414Pc.1240G>CExon 430,672,423Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A527Tc.1579G>AExon 730,691,474Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A527Vc.1580C>TExon 730,691,475Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
A531Tc.1591G>AExon 730,691,486Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1511G>AExon 630,688,498Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1524+1G>AIntron 630,688,512Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
C393Yc.1178G>AExon 430,672,361Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
D446Nc.1336G>AExon 530,674,186Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
D522Nc.1564G>AExon 730,691,459Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
L305Fc.913C>TExon 430,672,096Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 23 TGFBR2 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.). TGFBR2 gene: transforming growth factor beta receptor 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/tgfbr2

Vancouver

Dante Labs. TGFBR2 gene: transforming growth factor beta receptor 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tgfbr2

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