OSBPL7

Chr 17

oxysterol binding protein like 7

Also known as: ORP7

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
0
Pubs (1 yr)
2.1
Missense Z
0.44
LOEUF
Clinical SummaryOSBPL7
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.29) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.44LOEUF
pLI 0.003
Z-score 4.76
OE 0.29 (0.190.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.13Z-score
OE missense 0.74 (0.680.80)
392 obs / 530.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.29 (0.190.44)
00.351.4
Missense OE0.74 (0.680.80)
00.61.4
Synonymous OE0.94
01.21.6
LoF obs/exp: 15 / 52.0Missense obs/exp: 392 / 530.0Syn Z: 0.65

ClinVar Variant Classifications

0 submitted variants in ClinVar

OSBPL7 · 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

No active trials found for this gene.

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Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC