• Gene id: 23762

Gene Summary

• Gene Symbol: OSBP2   Gene   UCSC   Ensembl
• Aliases: HLM, ORP-4, ORP4, OSBPL1, OSBPL4
• Gene name: oxysterol binding protein 2
• Alternate names: oxysterol-binding protein 2, OSBP-related protein 4, oxysterol binding protein-like 1, oxysterol-binding protein-related protein 4,
• Gene location: 22q12.2 (30693781: 30907823)     Exons: 19     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isof
• OMIM: 606729

Protein Summary

• Protein general information: Q969R2  
  • Name: Oxysterol binding protein 2 (Oxysterol binding protein related protein 4) (ORP 4) (OSBP related protein 4)
  • Length: 916  
  • Mass: 101266
  • Tissue specificity: Expressed mainly in retina, testis, and fetal liver. {ECO
• Sequence:

  MGKAAAPSRGGGCGGRSRGLSSLFTVVPCLSCHTAAPGMSASTSGSGPEPKPQPQPVPEPERGPLSEQVSEAVSE
  AVPRSEPVSETTSEPEPGAGQPSELLQGSRPGSESSSGVGAGPFTKAASEPLSRAVGSATFLRPESGSLPALKPL
  PLLRPGQAKTPLGVPMSGTGTTSSAPLALLPLDSFEGWLLKWTNYLKGYQRRWFVLGNGLLSYYRNQGEMAHTCR
  GTINLSTAHIDTEDSCGILLTSGARSYHLKASSEVDRQQWITALELAKAKAVRVMNTHSDDSGDDDEATTPADKS
  ELHHTLKNLSLKLDDLSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLFRITSNAMINACRDFL
  ELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSAPGRPANPSKSFIEGSLLTPKGEDSEEDEDT
  EYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWS
  IMKNCIGRELSRIPMPVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFN
  PMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISIMPLGAIHLEFQASGN
  HYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPYSYFSKEAARKVTGVVSDSQGKAHYVLSGSW
  DEQMECSKVMHSSPSSPSSDGKQKTVYQTLSAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPD
  QRLMEKGRWDEANTEKQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGY
  WEAKEKQDWHMCPNIF

• Structural information:
  • Protein Domains: (182..27-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037239  IPR000648  IPR018494  IPR011993  IPR001849  
  • Prosite: PS01013 PS50003
  • STRING: ENSP00000332576
• Other Databases: GeneCards:  OSBP2  Malacards:  OSBP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0032934	sterol binding	IBA	molecular function
GO:0008289	lipid binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0015485	cholesterol binding	IBA	molecular function
GO:0015248	sterol transporter activity	IBA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0097440	apical dendrite	IEA	cellular component
GO:0007286	spermatid development	IEA	biological process
GO:0015485	cholesterol binding	IDA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0015918	sterol transport	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray