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Gene

GDF2

growth differentiation factor 2

Summary

Cytogenetic location
10q11.22
Coordinates
Chromosome 10: 47,322,454–47,327,588 (GRCh38)
Exons
2 exons across 5.1 kb
Protein
429 amino acids
Inheritance
Autosomal dominant
Also known as
BMP-9, BMP9
MANE Select transcript
ENST00000581492.3NM_016204.4
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 report relevant to this gene

  • Hereditary Hemorrhagic Telangiectasia

    • Telangiectasia, Hereditary Hemorrhagic, Type 5Autosomal dominant

      Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.

      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong
    • Telangiectasia, Hereditary Hemorrhagic, Type 1Autosomal dominant
      • 1 GenCC submitter rates it definitive or strong
    • Autosomal dominant

      A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong
    • Telangiectasis

      Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.

      • ClinGen rates the link moderate
      • 2 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 GDF2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Variants with a page
Chromosome 10, with a bracket where GDF2 sits. GDF2 and 8 genes near it on chromosome 10, from 46,825,021 to 47,825,020.Chromosome 1010q11.22p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.347 Mb47.2 Mb47.4 Mb47.6 Mb47.8 MbPTPN20: 46,911,396–47,002,488, forward strandPTPN20GDF10: 47,300,060–47,313,580, forward strandGDF10GDF2: 47,322,454–47,327,588, forward strandGDF2RBP3: 47,348,363–47,357,881, forward strandRBP3ZNF488: 47,356,520–47,384,331, reverse strandZNF488ANXA8: 47,460,162–47,484,175, reverse strandANXA8FAM25G: 47,487,219–47,491,700, reverse strandFAM25GAGAP9: 47,501,788–47,523,791, reverse strandAGAP9SYT15B: 47,744,717–47,763,592, reverse strandSYT15BDiagram of GDF2: 2 exons on the forward strand of chromosome 10Exon 1: 6 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 1: 47,322,454–47,323,014, 561 bases. 1 variant with a page in exon 1. List themExon 2: 47,324,841–47,327,588, 2,748 bases125′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 3.3 kb of the gene's 5.1 kb; 1,290 of those bases code for the protein.

How a genome test reads GDF2

18

positions in GDF2 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 5.1 kb of GDF2, introns included, not only the 3.3 kb of exons.

Variants with a page (1)

The GDF2 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
Q26Xc.76C>TExon 147,322,744Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

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.). GDF2 gene: growth differentiation factor 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/gdf2

Vancouver

Dante Labs. GDF2 gene: growth differentiation factor 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gdf2

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