Skip to content
Use your HSA or FSA funds

Gene

SGMS2

sphingomyelin synthase 2

Summary

Cytogenetic location
4q25
Coordinates
Chromosome 4: 107,824,932–107,915,047 (GRCh38)
Exons
7 exons across 90.1 kb
Protein
365 amino acids
Also known as
MGC26963, SMS2
MANE Select transcript
ENST00000690982.1NM_001375905.1
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

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

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

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

How SGMS2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where SGMS2 sits. SGMS2 and 4 genes near it on chromosome 4, from 107,369,990 to 108,369,989.Chromosome 44q25p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2107.4 Mb107.6 Mb107.8 Mb108 Mb108.2 MbPAPSS1: 107,590,276–107,720,395, reverse strandPAPSS1SGMS2: 107,824,932–107,915,047, forward strandSGMS2CYP2U1: 107,931,324–107,953,465, forward strandCYP2U1HADH: 107,989,683–108,035,241, forward strandHADHLEF1: 108,045,592–108,169,198, reverse strandLEF1Diagram of SGMS2: 7 exons on the forward strand of chromosome 4Exon 3: 1 known disease-causing siteExon 1: 107,824,932–107,825,253, 322 basesExon 2: 107,858,472–107,858,553, 82 basesExon 3: 107,895,310–107,896,008, 699 basesExon 4: 107,899,575–107,899,692, 118 basesExon 5: 107,903,233–107,903,386, 154 basesExon 6: 107,908,565–107,908,731, 167 basesExon 7: 107,910,350–107,915,047, 4,698 bases12345675′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 6.2 kb of the gene's 90.1 kb; 1,098 of those bases code for the protein.

How a genome test reads SGMS2

1

position in SGMS2 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 90.1 kb of SGMS2, introns included, not only the 6.2 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.). SGMS2 gene: sphingomyelin synthase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/sgms2

Vancouver

Dante Labs. SGMS2 gene: sphingomyelin synthase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sgms2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test