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Gene

GDF1

growth differentiation factor 1

Summary

Cytogenetic location
19p13.11
Coordinates
Chromosome 19: 18,868,545–18,896,158 (GRCh38)
Exons
8 exons across 27.6 kb
Protein
372 amino acids
MANE Select transcript
ENST00000247005.8NM_001492.6
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 report relevant to this gene

  • Heterotaxy & Laterality Defects

    • Visceral Heterotaxy

      Abnormal left-right arrangement of the internal organs, caused by changes in genes such as ZIC3 (X-linked), NODAL, CFC1, MMP21 and PKD1L1, often with complex heart defects and spleen abnormalities.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports heart and abdominal imaging, infection precautions if the spleen is absent, and reproductive counselling.

How GDF1 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 GDF1 sits. GDF1 and 34 genes near it on chromosome 19, from 18,382,352 to 19,382,351.Chromosome 1919p13.11p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4318.4 Mb18.6 Mb18.8 Mb19 Mb19.2 MbGDF15: 18,374,731–18,389,176, forward strandGDF15LRRC25: 18,390,351–18,397,622, reverse strandLRRC25SSBP4: 18,418,864–18,434,563, forward strandSSBP4ISYNA1: 18,434,388–18,438,309, reverse strandISYNA1ELL: 18,442,663–18,522,116, reverse strandELLFKBP8: 18,531,751–18,544,264, reverse strandKXD1: 18,557,683–18,569,387, forward strandUBA52: 18,571,722–18,577,550, forward strandUBA52CRLF1: 18,572,220–18,607,741, reverse strandCRLF1REX1BD: 18,588,685–18,592,342, forward strandREX1BDTMEM59L: 18,607,335–18,621,050, forward strandTMEM59LKLHL26: 18,637,018–18,671,721, forward strandKLHL26CRTC1: 18,683,575–18,782,333, forward strandCRTC1COMP: 18,782,773–18,791,312, reverse strandCOMPUPF1: 18,831,905–18,868,232, forward strandUPF1GDF1: 18,868,545–18,896,158, reverse strandGDF1CERS1: 18,868,545–18,896,727, reverse strandCERS1COPE: 18,899,511–18,919,407, reverse strandCOPE: 18,907,013–18,934,397, reverse strandDDX49: 18,919,667–18,929,189, forward strandHOMER3: 18,929,201–18,941,728, reverse strandSUGP2: 18,990,887–19,061,647, reverse strandSUGP2ARMC6: 19,033,575–19,060,311, forward strandARMC6SLC25A42: 19,061,697–19,113,030, forward strandSLC25A42TMEM161A: 19,119,148–19,138,513, reverse strandTMEM161AMEF2B: 19,145,563–19,192,589, reverse strandMEF2BBORCS8-MEF2B: 19,145,569–19,192,158, reverse strandBORCS8-MEF2BBORCS8: 19,163,148–19,192,591, reverse strandBORCS8RFXANK: 19,191,957–19,202,844, forward strandNR2C2AP: 19,201,409–19,203,729, reverse strandNCAN: 19,211,948–19,252,247, forward strandHAPLN4: 19,254,731–19,262,827, reverse strandHAPLN4TM6SF2: 19,263,385–19,273,406, reverse strandTM6SF2SUGP1: 19,276,018–19,320,511, reverse strandSUGP1MAU2: 19,320,811–19,358,754, forward strandMAU2Diagram of GDF1: 8 exons on the reverse strand of chromosome 19Exon 8: 11 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 18,868,545–18,869,390, 846 basesExon 7: 18,869,983–18,870,619, 637 basesExon 6: 18,878,930–18,879,039, 110 basesExon 5: 18,879,241–18,879,388, 148 basesExon 4: 18,880,274–18,880,435, 162 basesExon 3: 18,884,087–18,884,267, 181 basesExon 2: 18,893,416–18,893,575, 160 basesExon 1: 18,895,824–18,896,158, 335 bases864215′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 2.6 kb of the gene's 27.6 kb; 1,119 of those bases code for the protein.

How a genome test reads GDF1

14

positions in GDF1 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 27.6 kb of GDF1, introns included, not only the 2.6 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.). GDF1 gene: growth differentiation factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gdf1

Vancouver

Dante Labs. GDF1 gene: growth differentiation factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gdf1

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