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Gene

SAMD9

sterile alpha motif domain containing 9

Summary

Cytogenetic location
7q21.2
Coordinates
Chromosome 7: 93,099,518–93,117,979 (GRCh38)
Exons
3 exons across 18.5 kb
Protein
1,589 amino acids
Inheritance
Autosomal dominant
Also known as
KIAA2004, FLJ20073
Previous symbols
C7orf5
MANE Select transcript
ENST00000379958.3NM_017654.4
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

  • Inherited Predisposition to Myeloid Blood Cancers

    • SAMD9-related spectrum and myeloid neoplasm riskAutosomal dominant

      SAMD9 variants linked to low blood counts, loss of chromosome 7 in the bone marrow, and myelodysplastic syndrome.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Blood-count and bone-marrow monitoring.

    • Monosomy 7 myelodysplasia and leukaemia syndrome 2Autosomal dominant

      Familial predisposition to myelodysplastic syndrome and leukaemia with loss of chromosome 7 in the bone marrow.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Blood-count and bone-marrow monitoring.

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 SAMD9 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where SAMD9 sits. SAMD9 and 6 genes near it on chromosome 7, from 92,608,749 to 93,608,748.Chromosome 77q21.2p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.392.8 Mb93 Mb93.2 Mb93.4 Mb93.6 MbCDK6: 92,604,921–92,837,004, reverse strandCDK6SAMD9: 93,099,518–93,117,979, reverse strandSAMD9SAMD9L: 93,130,056–93,148,410, reverse strandSAMD9LHEPACAM2: 93,188,444–93,226,559, reverse strandHEPACAM2VPS50: 93,232,340–93,361,123, forward strandVPS50CALCR: 93,424,486–93,575,738, reverse strandCALCRGNGT1: 93,591,329–93,911,265, forward strandGNGT1Diagram of SAMD9: 3 exons on the reverse strand of chromosome 7Exon 3: 19 known disease-causing sitesExon 3: 93,099,518–93,106,105, 6,588 basesExon 2: 93,114,795–93,114,895, 101 basesExon 1: 93,117,863–93,117,979, 117 bases3215′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 6.8 kb of the gene's 18.5 kb; 4,770 of those bases code for the protein.

How a genome test reads SAMD9

20

positions in SAMD9 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 18.5 kb of SAMD9, introns included, not only the 6.8 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.). SAMD9 gene: sterile alpha motif domain containing 9. Retrieved 16 October 2026, from https://dantelabs.com/genes/samd9

Vancouver

Dante Labs. SAMD9 gene: sterile alpha motif domain containing 9 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/samd9

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