Osbpl2 oxysterol binding protein-like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Osbpl2provided by MGI
Official Full Name: oxysterol binding protein-like 2provided by MGI
Primary source: MGI:MGI:2442832
See related: Ensembl:ENSMUSG00000039050 AllianceGenome:MGI:2442832
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Orp2; ORP-2; C130070J12Rik
Summary: Predicted to enable cholesterol binding activity; lipid transfer activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in regulation of presynaptic cytosolic calcium ion concentration. Is active in glutamatergic synapse and presynaptic active zone cytoplasmic component. Is expressed in several structures, including central nervous system; genitourinary system; heart; immune system; and lung. Used to study autosomal dominant nonsyndromic deafness 67. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 67. Orthologous to human OSBPL2 (oxysterol binding protein like 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 29.7), genital fat pad adult (RPKM 20.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H4; 2 102.64 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (179758059..179804475)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (180116318..180162682)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The lipid transporter ORP2 regulates synaptic neurotransmitter release via two distinct mechanisms.
Title: The lipid transporter ORP2 regulates synaptic neurotransmitter release via two distinct mechanisms.
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.
Title: OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.
Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling.
Title: Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling.
The regulation of OSBPL2 by Mir96 was investigated in Mir96 mutant mice.
Title: OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation

General gene information

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Markers

Osbpl2 (e-PCR), detects polymorphism
- UniSTS:265471

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol binding	IEA Inferred from Electronic Annotation more info
enables cholesterol binding	ISO Inferred from Sequence Orthology more info
enables cholesterol transfer activity	ISO Inferred from Sequence Orthology more info
enables cholesterol transfer activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol transfer activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol transfer activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in intracellular cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in intracellular cholesterol transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in phospholipid transport	IEA Inferred from Electronic Annotation more info
involved_in phospholipid transport	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane organization	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane organization	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of presynaptic cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle priming	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle priming	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
colocalizes_with lipid droplet	ISO Inferred from Sequence Orthology more info
colocalizes_with lipid droplet	ISS Inferred from Sequence or Structural Similarity more info
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
is_active_in presynaptic active zone cytoplasmic component	IDA Inferred from Direct Assay more info	PubMed

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.

mRNA and Protein(s)

NM_144500.4 → NP_653083.2 oxysterol-binding protein-related protein 2

See identical proteins and their annotated locations for NP_653083.2

Status: VALIDATED

Source sequence(s)

AL663027, AL672130

Consensus CDS

CCDS17170.1

UniProtKB/Swiss-Prot

Q3TCK8, Q8BX94, Q8R0H8

UniProtKB/TrEMBL

Q3TDA1

Related

ENSMUSP00000046538.9, ENSMUST00000040668.9

Conserved Domains (1) summary

pfam01237
Location:75 → 474

Oxysterol_BP; Oxysterol-binding protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

179758059..179804475

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030250794.2 → XP_030106654.1 oxysterol-binding protein-related protein 2 isoform X1

UniProtKB/Swiss-Prot

Q3TCK8, Q8BX94, Q8R0H8

UniProtKB/TrEMBL

Q3TDA1

Conserved Domains (1) summary

pfam01237
Location:75 → 474

Oxysterol_BP; Oxysterol-binding protein
XM_017317993.2 → XP_017173482.1 oxysterol-binding protein-related protein 2 isoform X1

UniProtKB/Swiss-Prot

Q3TCK8, Q8BX94, Q8R0H8

UniProtKB/TrEMBL

Q3TDA1

Conserved Domains (1) summary

pfam01237
Location:75 → 474

Oxysterol_BP; Oxysterol-binding protein