OSTM1

Chr 6

osteoclastogenesis associated transmembrane protein 1

Also known as: GIPN, GL, HSPC019, OPTB5

NCBI Gene: 28962ENSG00000081087UniProt: Q86WC4

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOsteopetrosis, autosomal recessive 5

Clinical highlights

Gene-disease validity (ClinGen)
autosomal recessive osteopetrosis 5 · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — OSTM1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.011
Z-score 2.33
OE 0.37 (0.20–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.09Z-score
OE missense 0.77 (0.67–0.89)
139 obs / 180.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.20–0.74)
0≤0.351.4
Missense OE?0.77 (0.67–0.89)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 6 / 16.1Missense obs/exp: 139 / 180.3Syn Z: 0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OSTM1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients