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Gene

SMAD9

SMAD family member 9

Summary

Cytogenetic location
13q13.3
Coordinates
Chromosome 13: 36,844,831–36,920,238 (GRCh38)
Exons
7 exons across 75.4 kb
Protein
467 amino acids
Also known as
SMAD8, SMAD8/9
Previous symbols
MADH6, MADH9
MANE Select transcript
ENST00000379826.5NM_001127217.3
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

  • Heritable Pulmonary Arterial Hypertension (HPAH)

    • Heritable Pulmonary Arterial Hypertension

      Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.

      • 2 GenCC submitters rate it definitive or strong

How SMAD9 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 13, with a bracket where SMAD9 sits. SMAD9 and 7 genes near it on chromosome 13, from 36,382,535 to 37,382,534.Chromosome 1313q13.3p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3436.4 Mb36.6 Mb36.8 Mb37 Mb37.2 MbCCNA1: 36,431,511–36,442,959, forward strandCCNA1SERTM1: 36,673,798–36,698,457, forward strandSERTM1RFXAP: 36,819,188–36,848,169, forward strandRFXAPSMAD9: 36,844,831–36,920,238, reverse strandSMAD9ALG5: 36,949,564–37,000,763, reverse strandALG5EXOSC8: 36,998,816–37,025,881, forward strandEXOSC8SUPT20H: 37,006,027–37,059,728, reverse strandSUPT20HCSNK1A1L: 37,103,259–37,105,664, reverse strandCSNK1A1LDiagram of SMAD9: 7 exons on the reverse strand of chromosome 13Exon 6: 1 known disease-causing siteExon 5: 8 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 7: 36,844,831–36,848,819, 3,989 basesExon 6: 36,853,419–36,853,675, 257 basesExon 5: 36,865,537–36,865,758, 222 basesExon 4: 36,867,273–36,867,383, 111 basesExon 3: 36,872,658–36,872,915, 258 basesExon 2: 36,879,278–36,879,875, 598 basesExon 1: 36,920,116–36,920,238, 123 bases76543215′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 5.6 kb of the gene's 75.4 kb; 1,404 of those bases code for the protein.

How a genome test reads SMAD9

28

positions in SMAD9 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 75.4 kb of SMAD9, introns included, not only the 5.6 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.). SMAD9 gene: SMAD family member 9. Retrieved 17 October 2026, from https://dantelabs.com/genes/smad9

Vancouver

Dante Labs. SMAD9 gene: SMAD family member 9 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/smad9

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