Osbpl2 MGI Mouse Gene Detail - MGI:2442832 - oxysterol binding protein-like 2

Symbol

Osbpl2
Name

oxysterol binding protein-like 2
Synonyms

C130070J12Rik, ORP-2

Feature Type

protein coding gene
IDs

MGI:2442832
NCBI Gene: 228983
Alliance

genome feature page
Transcription Start Sites

2 TSS

Sequence Map

Chr2:179761099-179804473 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 102.64 cM
Mapping Data

1 experiment

SNPs within 2kb

974 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2442832	protein coding gene	Chr2:179758059-179804475 (+)
129S1/SvImJ	ENSMUSG00200002217	protein coding gene	Chr2:175784016-175827430 (+)
A/J	ENSMUSG00195001058	protein coding gene	Chr2:176021296-176064705 (+)
AKR/J	ENSMUSG00220000099	protein coding gene	Chr2:173699878-173743290 (+)
BALB/cJ	ENSMUSG00180000395	protein coding gene	Chr2:173823416-173866829 (+)
C3H/HeJ	ENSMUSG00175004221	protein coding gene	Chr2:174981427-175024812 (+)
C57BL/6NJ	ENSMUSG00215002579	protein coding gene	Chr2:173922268-173965643 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024775	protein coding gene	Chr2:169645700-169689222 (+)
CAST/EiJ	ENSTCUG00005000605	protein coding gene	Chr2:173270269-173313428 (+)
CBA/J	ENSMUSG00210000814	protein coding gene	Chr2:174301484-174344891 (+)
DBA/2J	ENSMUSG00185019707	protein coding gene	Chr2:175540845-175584230 (+)
FVB/NJ	ENSMUSG00205002174	protein coding gene	Chr2:174349126-174392531 (+)
JF1/MsJ	ENSUMUG00000014392	protein coding gene	Chr2:176717301-176760965 (+)
LP/J	ENSMUSG00230025129	protein coding gene	Chr2:177434987-177478392 (+)
NOD/ShiLtJ	ENSMUSG00190015434	protein coding gene	Chr2:173843115-173886521 (+)
NZO/HlLtJ	ENSMUSG00225006688	protein coding gene	Chr2:185521453-185564837 (+)
PWK/PhJ	ENSLUMG00010000180	protein coding gene	Chr2:174144762-174188407 (+)
SPRET/EiJ	ENSMSPG00010003851	protein coding gene	Chr2:176621770-176663785 (+)
WSB/EiJ	ENSIUOG00005000187	protein coding gene	Chr2:173867932-173911373 (+)

Human Ortholog

OSBPL2, oxysterol binding protein like 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

OSBPL2, oxysterol binding protein like 2
Synonyms

DFNA67, DIDA, DNFA67, ORP-2, ORP2
Links

HGNC:15761

NCBI Gene ID: 9885

UniProt: Q9H1P3
Chr Location

20q13.33; chr20:62231922-62296213 (+) GRCh38

MGI Vertebrate Homology

Osbpl2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: OSBPL2
Gene Tree

Osbpl2

Diseases

1 with Osbpl2 mouse models; 1 with human OSBPL2 associations

Human Disease

Mouse Models

autosomal dominant nonsyndromic deafness 67

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
11 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Endonuclease-mediated

7
Gene trapped

2
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele show progressive hearing loss, abnormal cochlear development with defective cilia.

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All GO Annotations

54
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

610
Tissues

13
cDNA Data

74
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase osbpl2

ZFIN osbpl2a, osbpl2b

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All Sequences

58
RefSeq

6
UniProt

3
CCDS

CCDS17170.1

Ensembl

ENSMUSG00000039050 (Evidence)
NCBI Gene

228983

			Length	Strain/Species	Flank
genomic	ENSMUSG00000039050	Ensembl Gene Model \| MGI Sequence Detail	43375	C57BL/6J	± kb
transcript	ENSMUST00000040668	Ensembl \| MGI Sequence Detail	2805	Not Applicable
polypeptide	ENSMUSP00000046538	Ensembl \| MGI Sequence Detail	484	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012048 oxysterol-binding protein-related protein 2

(term hierarchy)
InterPro Domains

IPR000648 Oxysterol-binding protein

IPR018494 Oxysterol-binding protein, conserved site

IPR037239 Oxysterol-binding protein superfamily

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All nucleic 75

cDNA 74

Primer pair 1

Microarray probesets 3

Summaries

All 43

Developmental Gene Expression 2

Diseases 1

Gene Ontology 10

Phenotypes 11
Earliest

J:78568 Anniss AM, et al., An oxysterol-binding protein family identified in the mouse. DNA Cell Biol. 2002 Aug;21(8):571-80
Latest

J:346433 Weber-Boyvat M, et al., The lipid transporter ORP2 regulates synaptic neurotransmitter release via two distinct mechanisms. Cell Rep. 2022 Dec 27;41(13):111882

TSS for Osbpl2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr22209	Chr2:179761094-179761200 (+)	48 bp
Tssr22210	Chr2:179762436-179762441 (+)	1,340 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/08/2026 MGI 6.24