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Gene

SMAD2

SMAD family member 2

Summary

Cytogenetic location
18q21.1
Coordinates
Chromosome 18: 47,808,957–47,930,659 (GRCh38)
Exons
11 exons across 121.7 kb
Protein
467 amino acids
Inheritance
Autosomal dominant
Also known as
MADR2, JV18-1
Previous symbols
MADH2
MANE Select transcript
ENST00000262160.11NM_005901.6
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

  • 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
      • 5 GenCC submitters rate it definitive or strong

  • 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
      • 5 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 SMAD2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where SMAD2 sits. SMAD2 and 1 gene near it on chromosome 18, from 47,369,808 to 48,369,807.Chromosome 1818q21.1p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2347.4 Mb47.6 Mb47.8 Mb48 Mb48.2 MbSMAD2: 47,808,957–47,930,659, reverse strandSMAD2ZBTB7C: 48,025,767–48,410,752, reverse strandZBTB7CDiagram of SMAD2: 11 exons on the reverse strand of chromosome 18Exon 11: 1 known disease-causing siteExon 10: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 6 known disease-causing sitesExon 7: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 11: 47,808,957–47,841,950, 32,994 basesExon 10: 47,845,340–47,845,484, 145 basesExon 9: 47,845,663–47,845,800, 138 basesExon 8: 47,848,475–47,848,687, 213 basesExon 7: 47,851,274–47,851,327, 54 basesExon 6: 47,865,059–47,865,133, 75 basesExon 5: 47,868,323–47,868,457, 135 basesExon 4: 47,869,243–47,869,436, 194 basesExon 3: 47,870,475–47,870,564, 90 basesExon 2: 47,896,521–47,896,809, 289 basesExon 1: 47,930,361–47,930,659, 299 bases1110864215′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 34.6 kb of the gene's 121.7 kb; 1,404 of those bases code for the protein.

How a genome test reads SMAD2

14

positions in SMAD2 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 121.7 kb of SMAD2, introns included, not only the 34.6 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.). SMAD2 gene: SMAD family member 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/smad2

Vancouver

Dante Labs. SMAD2 gene: SMAD family member 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/smad2

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