OSBPL11

protein-coding

oxysterol binding protein like 11, the group of Oxysterol binding proteins|Pleckstrin homology domain containing

Gene summary

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]

MANE transcript

NM_022776.5

Inheritance

—

ClinVar variants

U:99B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.19

Max pathogenic AF

—

Genomic locus

chr3:125,528,858-125,595,497

External References & Databases

Ensembl (ENSG00000144909)

Transcript & Mutation Effects

hg38 • Region Span ~66.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OSBPL11 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 90

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022776.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			92 clinvar	1 clinvar		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	99	1	0	100

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022776.5	RefSeq	NP_073613.2	13	MANE Select
ENST00000296220.6	Ensembl	ENSP00000296220.5	13	MANE Select
ENST00000910154.1	Ensembl	ENSP00000580213.1	12	Standard
ENST00000910154.2	Ensembl	ENSP00000580213.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of sequestering of triglyceride
sterol transport
fat cell differentiation

Molecular Function

lipid binding
sterol transporter activity
sterol binding

Cellular Component

nucleoplasm
Golgi apparatus
cytosol
membrane
late endosome membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000296220
Coding exons: 13
Length: 66233
Individuals with no LoFs: 125734
Homozygous LoFs: 0
Heterozygous LoFs: 14
Defined: 125748
p: 0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.29	272	401	0.678	0.0000198	4900
Missense (PolyPhen)		76	161.77	0.46981		1946
Synonymous	0.804	130	142	0.914	0.00000712	1414
Loss of Function	4.55	7	36.7	0.191	0.00000181	468

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000080	0.000079	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage (PubMed:23028956). Weakly binds 25- hydroxycholesterol (PubMed:17428193). {ECO:0000269|PubMed:17428193, ECO:0000269|PubMed:23028956}.;

Recessive Scores

pRec: 0.0970

Intolerance Scores

LoFtool: 0.484
RVIS EVS: -0.8
RVIS percentile EVS: 12.24

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.908

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium