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

gene 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

230 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2442832	protein coding gene	Chr2:179758059-179804475 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026987	protein coding gene	Chr2:186619839-186667219 (+)
A/J	MGP_AJ_G0026953	protein coding gene	Chr2:178952840-178997978 (+)
AKR/J	MGP_AKRJ_G0026923	protein coding gene	Chr2:184309727-184355475 (+)
BALB/cJ	MGP_BALBcJ_G0026962	protein coding gene	Chr2:179416981-179460792 (+)
C3H/HeJ	MGP_C3HHeJ_G0026703	protein coding gene	Chr2:184661884-184711142 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027408	protein coding gene	Chr2:192012132-192058154 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024775	protein coding gene	Chr2:169645700-169689222 (+)
CAST/EiJ	MGP_CASTEiJ_G0026162	protein coding gene	Chr2:182906688-182952294 (+)
CBA/J	MGP_CBAJ_G0026680	protein coding gene	Chr2:198993047-199043116 (+)
DBA/2J	MGP_DBA2J_G0026818	protein coding gene	Chr2:178048274-178100856 (+)
FVB/NJ	MGP_FVBNJ_G0026784	protein coding gene	Chr2:176652892-176697824 (+)
LP/J	MGP_LPJ_G0026919	protein coding gene	Chr2:186611743-186659200 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026803	protein coding gene	Chr2:201621081-201667535 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027467	protein coding gene	Chr2:184275164-184320467 (+)
PWK/PhJ	MGP_PWKPhJ_G0025898	protein coding gene	Chr2:175558936-175603221 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025698	protein coding gene	Chr2:180762829-180808079 (+)
WSB/EiJ	MGP_WSBEiJ_G0026234	protein coding gene	Chr2:185240203-185285114 (+)

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, DNFA67, ORP2, ORP-2
Links

HGNC:15761

NCBI Gene ID: 9885

neXtProt AC: NX_Q9H1P3

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
8 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

10
Endonuclease-mediated

4
Gene trapped

2
Targeted

4
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

21 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

27
GO References

5

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	non-membrane-bounded 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

719
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

57
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 36

Developmental Gene Expression 2

Diseases 1

Gene Ontology 5

Phenotypes 8
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 04/09/2024 MGI 6.23