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Gene

SBDS

SBDS ribosome maturation factor

Summary

Cytogenetic location
7q11.21
Coordinates
Chromosome 7: 66,987,680–66,995,586 (GRCh38)
Exons
5 exons across 7.9 kb
Protein
250 amino acids
Also known as
CGI-97, FLJ10917, SDS, SWDS, SDO1
MANE Select transcript
ENST00000246868.7NM_016038.4
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 reports relevant to this gene

  • Shwachman-Diamond Syndrome

    • A condition mainly caused by recessive changes in SBDS, and less often in EFL1 or other genes, featuring neutropenia, exocrine pancreatic insufficiency and skeletal changes, with an increased risk of bone marrow failure, myelodysplastic syndrome and acute myeloid leukaemia.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      A diagnosis allows pancreatic enzyme replacement and regular blood and bone marrow monitoring, and guides donor choice if stem cell transplantation is needed.

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

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

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

How SBDS 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 SBDS sits. SBDS and 6 genes near it on chromosome 7, from 66,491,633 to 67,491,632.Chromosome 77q11.21p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.366.6 Mb66.8 Mb67 Mb67.2 Mb67.4 MbKCTD7: 66,628,865–66,649,067, forward strandKCTD7: 66,628,958–66,811,189, forward strandRABGEF1: 66,682,105–66,811,464, forward strandRABGEF1TMEM248: 66,921,160–66,958,551, forward strandTMEM248SBDS: 66,987,680–66,995,586, reverse strandSBDSTYW1: 66,995,173–67,239,525, forward strandTYW1SPDYE21: 67,276,941–67,289,005, forward strandSPDYE21Diagram of SBDS: 5 exons on the reverse strand of chromosome 7Exon 5: 5 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 1: 9 known disease-causing sitesExon 5: 66,987,680–66,988,499, 820 basesExon 4: 66,991,137–66,991,301, 165 basesExon 3: 66,993,217–66,993,417, 201 basesExon 2: 66,994,212–66,994,341, 130 basesExon 1: 66,995,290–66,995,586, 297 bases543215′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 1.6 kb of the gene's 7.9 kb; 753 of those bases code for the protein.

How a genome test reads SBDS

36

positions in SBDS where ClinVar classes a change as pathogenic or likely pathogenic

36 of them (100%) fall in regions short reads find hard.

  • Low mappability (14 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (36 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 7.9 kb of SBDS, introns included, not only the 1.6 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.). SBDS gene: SBDS ribosome maturation factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/sbds

Vancouver

Dante Labs. SBDS gene: SBDS ribosome maturation factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sbds

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