OSBPL2 oxysterol binding protein like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OSBPL2provided by HGNC
Official Full Name: oxysterol binding protein like 2provided by HGNC
Primary source: HGNC:HGNC:15761
See related: Ensembl:ENSG00000130703 MIM:606731; AllianceGenome:HGNC:15761
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ORP2; ORP-2; DFNA67; DNFA67
Summary: This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]
Expression: Ubiquitous expression in skin (RPKM 12.0), esophagus (RPKM 9.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (62238521..62296183)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (64029614..64087136)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (60813577..60871239)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
Title: OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P2 exchange.
Title: ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P(2) exchange.
Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis.
Title: Circ-OSBPL2 Contributes to Smoke-Related Chronic Obstructive Pulmonary Disease by Targeting miR-193a-5p/BRD4 Axis.
ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells.
Title: ORP2, a cholesterol transporter, regulates angiogenic signaling in endothelial cells.
Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity.
Title: Deletion of OSBPL2 in auditory cells increases cholesterol biosynthesis and drives reactive oxygen species production by inhibiting AMPK activity.
It identified novel pathways modulated by OSBPL2 orthologues, providing new insight into the mechanism of hearing loss induced by OSBPL2 deficiency.
Title: Comparative transcriptome analysis of auditory OC-1 cells and zebrafish inner ear tissues in the absence of human OSBPL2 orthologues.
OSBPL2 deficiency upregulates SQLE expression and increases the accumulation of cholesterol and cholesteryl ester by suppressing AMPK signalling, which provides new evidence of the connection between OSBPL2 and cholesterol synthesis.
Title: OSBPL2 deficiency upregulate SQLE expression increasing intracellular cholesterol and cholesteryl ester by AMPK/SP1 and SREBF2 signalling pathway.
Whole genome sequencing identified a novel pathogenic frameshift mutation, a two-nucleotide deletion, in OSBPL2 (c.158_159delAA) as the pathogenic variant for deafness in a Mongolian family. This finding expands the mutational spectrum of OSBPL2 and contributes to the pathogenic variant list in genetic counseling for deafness screening.
Title: A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
ORP2 regulates the levels of both cholesterol and PI(4,5)P2 on the plasma membrane, and ORP2 forms a tetramer to efficiently transfer PI(4,5)P2.
Title: ORP2 Delivers Cholesterol to the Plasma Membrane in Exchange for Phosphatidylinositol 4, 5-Bisphosphate (PI(4,5)P(2)).
25-Hydroxycholesterol down-regulates the expression of OSBPL2 in the HeLa cells. 25-hydroxycholesterol down-regulates OSBPL2 via the p53/SREBP2/NFYA signaling pathway.
Title: 25-hydroxycholesterol down-regulates oxysterol binding protein like 2 (OSBPL2) via the p53/SREBF2/NFYA signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 67 MedGen: C4084712 OMIM: 616340 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-67307 (e-PCR)
- UniSTS:89991

AF044685 (e-PCR)
- UniSTS:43965

STS-N95070 (e-PCR)
- UniSTS:34303

Clone Names

MGC4307, MGC8342, FLJ20223, FLJ36273, FLJ44790, KIAA0772

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sterol transfer activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in bile acid biosynthetic process	TAS Traceable Author Statement more info
involved_in cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in intracellular cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of presynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle priming	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with lipid droplet	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in perinuclear endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in presynaptic active zone cytoplasmic component	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: oxysterol-binding protein-related protein 2

Names: OSBP-related protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042164.1 RefSeqGene

Range

5037..62699

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278649.3 → NP_001265578.1 oxysterol-binding protein-related protein 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains multiple differences in the internal exons, compared to variant 2, and initiates translation at a downstream in-frame start codon. exons and contains another compared to variant 2. The resulting isoform (3) is shorter at the N-terminus and has a distinct C-terminus compared to isoform 2.

Source sequence(s)

AK296595, AL354836, BF507780, DA301911

Consensus CDS

CCDS63323.1

UniProtKB/TrEMBL

B4DKJ8, E7ET92

Related

ENSP00000495166.1, ENST00000645520.1

Conserved Domains (1) summary

pfam01237
Location:1 → 283

Oxysterol_BP; Oxysterol-binding protein
NM_001363878.2 → NP_001350807.1 oxysterol-binding protein-related protein 2 isoform 4

Status: REVIEWED

Source sequence(s)

AF392447, AL354836, BF507780, DA913312

Consensus CDS

CCDS86966.1

UniProtKB/TrEMBL

A0A2R8YD49, A0A2R8YDU7

Related

ENSP00000494921.1, ENST00000645442.1

Conserved Domains (1) summary

pfam01237
Location:1 → 372

Oxysterol_BP; Oxysterol-binding protein
NM_014835.5 → NP_055650.1 oxysterol-binding protein-related protein 2 isoform 1

See identical proteins and their annotated locations for NP_055650.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 2. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 2.

Source sequence(s)

AK291851, AL354836, BF507780

Consensus CDS

CCDS13494.1

UniProtKB/TrEMBL

B2RDK3

Related

ENSP00000350755.2, ENST00000358053.3

Conserved Domains (1) summary

pfam01237
Location:63 → 452

Oxysterol_BP; Oxysterol-binding protein
NM_144498.4 → NP_653081.1 oxysterol-binding protein-related protein 2 isoform 2

See identical proteins and their annotated locations for NP_653081.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).

Source sequence(s)

AF392447, AL354836, BF507780, DA301911

Consensus CDS

CCDS13495.1

UniProtKB/Swiss-Prot

A8K736, Q6IBT0, Q9BZB1, Q9H1P3, Q9Y4B8

UniProtKB/TrEMBL

B2RDK3

Related

ENSP00000316649.3, ENST00000313733.9

Conserved Domains (1) summary

pfam01237
Location:75 → 464

Oxysterol_BP; Oxysterol-binding protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

62238521..62296183

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

64029614..64087136

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001001691.1: Suppressed sequence

Description

NM_001001691.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.