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Osbpl2 Gene Detail
Summary
  • Symbol
    Osbpl2
  • Name
    oxysterol binding protein-like 2
  • Synonyms
    C130070J12Rik, ORP-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442832
    NCBI Gene: 228983
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:179761099-179804473 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 102.64 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    230 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
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 (+)



Homology
more
  • 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
    NCBI Gene ID: 9885
    neXtProt AC: NX_Q9H1P3
    UniProt: Q9H1P3

  • Chr Location
    20q13.33; chr20:62238485-62296213 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Osbpl2 mouse models; 1 with human OSBPL2 associations

Human Disease Mouse Models
      
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
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    7 phenotype references
Phenotype Overview

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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele show progressive hearing loss, abnormal cochlear development with defective cilia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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.
Expression
less
Expression Overview

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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    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  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 75
      cDNA 74
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 4
      Phenotypes 7
    • 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:324115 Shi H, et al., Mutations in OSBPL2 cause hearing loss associated with primary cilia defects via sonic hedgehog signaling. JCI Insight. 2022 Feb 22;7(4):e149626

    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)
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    Funding Information
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    last database update
    01/17/2023
    MGI 6.22
    The Jackson Laboratory