OSBPL11

Chr 3

oxysterol binding protein like 11

Also known as: ORP-11, ORP11, OSBP12, TCCCIA00292

NCBI Gene: 114885 ENSG00000144909 UniProt: Q9BXB4 OMIM: 606739

The encoded protein is a lipid transfer protein that exchanges phosphatidylserine and phosphatidylinositol-4-phosphate between the endoplasmic reticulum and Golgi complex, which is essential for sphingomyelin synthesis. Mutations cause autosomal recessive congenital ichthyosis, a disorder affecting skin barrier function present from birth. The gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.36

Clinical Summary— OSBPL11

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.83) — some intolerance to loss-of-function variants.

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ClinVar Variants

89 VUS of 104 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.36LOEUF

pLI 0.834

Z-score 4.55

OE 0.19 (0.11–0.36)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.29Z-score

OE missense 0.68 (0.61–0.75)

272 obs / 401.3 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.19 (0.11–0.36)

0≤0.351.4

Missense OE?0.68 (0.61–0.75)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 7 / 36.7Missense obs/exp: 272 / 401.3Syn Z: 0.80

ClinVar Variant Classifications

104 submitted variants in ClinVar

ClinVar

Classification Summary

VUS89

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	89	89
Likely Benign	1	1
Benign	0	0
Total	90	90

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

15 pathogenic / likely-pathogenic (of 24) ClinVar copy-number / structural variants overlap OSBPL11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →