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Protein

Oxysterol-binding protein-related protein 2

Gene

OSBPL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds 25-hydroxycholesterol (PubMed:17428193).2 Publications

GO - Molecular functioni

  • cholesterol binding Source: BHF-UCL
  • sterol transporter activity Source: Reactome

GO - Biological processi

Keywordsi

Biological processLipid transport, Transport
LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-192105 Synthesis of bile acids and bile salts

Chemistry databases

SwissLipidsiSLP:000001533

Names & Taxonomyi

Protein namesi
Recommended name:
Oxysterol-binding protein-related protein 2
Short name:
ORP-2
Short name:
OSBP-related protein 2
Gene namesi
Name:OSBPL2
Synonyms:KIAA0772, ORP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000130703.15
HGNCiHGNC:15761 OSBPL2
MIMi606731 gene
neXtProtiNX_Q9H1P3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 67 (DFNA67)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
See also OMIM:616340

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi93M → K: Does not significantly impair 25-hydroxycholesterol binding. 1 Publication1
Mutagenesisi103F → W: Does not significantly impair 25-hydroxycholesterol binding. 1 Publication1
Mutagenesisi150K → A: Reduces 25-hydroxycholesterol binding. 1 Publication1
Mutagenesisi152F → D: Does not significantly impair 25-hydroxycholesterol binding. 1 Publication1
Mutagenesisi249I → W: Reduces 25-hydroxycholesterol binding. 1 Publication1

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNETi9885
MalaCardsiOSBPL2
MIMi616340 phenotype
OpenTargetsiENSG00000130703
PharmGKBiPA32827

Polymorphism and mutation databases

DMDMi20139174

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001003691 – 480Oxysterol-binding protein-related protein 2Add BLAST480

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei19PhosphoserineCombined sources1
Modified residuei20PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H1P3
MaxQBiQ9H1P3
PaxDbiQ9H1P3
PeptideAtlasiQ9H1P3
PRIDEiQ9H1P3
ProteomicsDBi80434
80435 [Q9H1P3-2]

PTM databases

iPTMnetiQ9H1P3
PhosphoSitePlusiQ9H1P3

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000130703
CleanExiHS_OSBPL2
ExpressionAtlasiQ9H1P3 baseline and differential
GenevisibleiQ9H1P3 HS

Organism-specific databases

HPAiHPA041127
HPA042659

Interactioni

Subunit structurei

Interacts with DIAPH1.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi115216, 12 interactors
ELMiQ9H1P3
IntActiQ9H1P3, 10 interactors
STRINGi9606.ENSP00000316649

Structurei

3D structure databases

ProteinModelPortaliQ9H1P3
SMRiQ9H1P3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the OSBP family.Curated

Phylogenomic databases

eggNOGiKOG1737 Eukaryota
ENOG410XP9E LUCA
GeneTreeiENSGT00760000119155
HOGENOMiHOG000231233
HOVERGENiHBG053374
InParanoidiQ9H1P3
KOiK20174
OMAiFRIICEQ
OrthoDBiEOG091G07RK
PhylomeDBiQ9H1P3

Family and domain databases

InterProiView protein in InterPro
IPR037239 OSBP_sf
IPR000648 Oxysterol-bd
IPR018494 Oxysterol-bd_CS
PANTHERiPTHR10972 PTHR10972, 1 hit
PfamiView protein in Pfam
PF01237 Oxysterol_BP, 1 hit
SUPFAMiSSF144000 SSF144000, 2 hits
PROSITEiView protein in PROSITE
PS01013 OSBP, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H1P3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNGEEEFFDA VTGFDSDNSS GEFSEANQKV TGMIDLDTSK NNRIGKTGER
60 70 80 90 100
PSQENGIQKH RTSLPAPMFS RSDFSVWTIL KKCVGLELSK ITMPIAFNEP
110 120 130 140 150
LSFLQRITEY MEHVYLIHRA SCQPQPLERM QSVAAFAVSA VASQWERTGK
160 170 180 190 200
PFNPLLGETY ELIREDLGFR FISEQVSHHP PISAFHSEGL NHDFLFHGSI
210 220 230 240 250
YPKLKFWGKS VEAEPRGTIT LELLKHNEAY TWTNPTCCVH NVIIGKLWIE
260 270 280 290 300
QYGTVEILNH RTGHKCVLHF KPCGLFGKEL HKVEGHIQDK NKKKLFMIYG
310 320 330 340 350
KWTECLWGID PVSYESFKKQ ERRGDHLRKA KLDEDSGKAD SDVADDVPVA
360 370 380 390 400
QETVQVIPGS KLLWRINTRP PNSAQMYNFT SFTVSLNELE TGMEKTLPPT
410 420 430 440 450
DCRLRPDIRG MENGNMDLAS QEKERLEEKQ REARRERAKE EAEWQTRWFY
460 470 480
PGNNPYTGTP DWLYAGDYFE RNFSDCPDIY
Length:480
Mass (Da):55,201
Last modified:March 1, 2001 - v1
Checksum:iA93D1B389D0A2740
GO
Isoform 2 (identifier: Q9H1P3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     13-24: Missing.

Show »
Length:468
Mass (Da):53,971
Checksum:i9C51392E0EDF4DF8
GO

Sequence cautioni

The sequence BAA34492 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00378113 – 24Missing in isoform 2. 4 PublicationsAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028168 mRNA Translation: AAK18044.1
AF392447 mRNA Translation: AAL40660.1
AB018315 mRNA Translation: BAA34492.2 Different initiation.
AK291851 mRNA Translation: BAF84540.1
CR456722 mRNA Translation: CAG33003.1
AL354836 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75377.1
CH471077 Genomic DNA Translation: EAW75379.1
BC000296 mRNA Translation: AAH00296.1
BC004455 mRNA Translation: AAH04455.1
AF331963 mRNA Translation: AAG53416.1
CCDSiCCDS13494.1 [Q9H1P3-2]
CCDS13495.1 [Q9H1P3-1]
RefSeqiNP_055650.1, NM_014835.3 [Q9H1P3-2]
NP_653081.1, NM_144498.2 [Q9H1P3-1]
XP_016883654.1, XM_017028165.1 [Q9H1P3-1]
UniGeneiHs.473254

Genome annotation databases

EnsembliENST00000313733; ENSP00000316649; ENSG00000130703 [Q9H1P3-1]
ENST00000358053; ENSP00000350755; ENSG00000130703 [Q9H1P3-2]
ENST00000643412; ENSP00000494549; ENSG00000130703 [Q9H1P3-1]
ENST00000643981; ENSP00000495379; ENSG00000130703 [Q9H1P3-1]
GeneIDi9885
KEGGihsa:9885
UCSCiuc002yck.3 human [Q9H1P3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiOSBL2_HUMAN
AccessioniPrimary (citable) accession number: Q9H1P3
Secondary accession number(s): A8K736
, Q6IBT0, Q9BZB1, Q9Y4B8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: March 1, 2001
Last modified: June 20, 2018
This is version 140 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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