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Gene

OSTM1

osteoclastogenesis associated transmembrane protein 1

Summary

Cytogenetic location
6q21
Coordinates
Chromosome 6: 108,041,409–108,074,741 (GRCh38)
Exons
6 exons across 33.3 kb
Protein
334 amino acids
Also known as
HSPC019, GL
MANE Select transcript
ENST00000193322.8NM_014028.4
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

  • Osteopetrosis

    • Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.

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

How OSTM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where OSTM1 sits. OSTM1 and 6 genes near it on chromosome 6, from 107,558,075 to 108,558,074.Chromosome 66q21p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27107.6 Mb107.8 Mb108 Mb108.2 Mb108.4 MbSOBP: 107,489,897–107,661,306, forward strandSOBPSCML4: 107,701,722–107,824,328, reverse strandSCML4SEC63: 107,867,756–107,958,311, reverse strandSEC63OSTM1: 108,041,409–108,074,741, reverse strandOSTM1NR2E1: 108,166,017–108,188,805, forward strandNR2E1SNX3: 108,210,873–108,261,255, reverse strandSNX3AFG1L: 108,294,892–108,526,796, forward strandAFG1LDiagram of OSTM1: 6 exons on the reverse strand of chromosome 6Exon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 6: 108,041,409–108,044,840, 3,432 basesExon 5: 108,049,253–108,049,418, 166 basesExon 4: 108,051,031–108,051,198, 168 basesExon 3: 108,054,490–108,054,587, 98 basesExon 2: 108,064,185–108,064,299, 115 basesExon 1: 108,074,250–108,074,741, 492 bases6543215′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 4.5 kb of the gene's 33.3 kb; 1,005 of those bases code for the protein.

How a genome test reads OSTM1

7

positions in OSTM1 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 33.3 kb of OSTM1, introns included, not only the 4.5 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.). OSTM1 gene: osteoclastogenesis associated transmembrane protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ostm1

Vancouver

Dante Labs. OSTM1 gene: osteoclastogenesis associated transmembrane protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ostm1

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