Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	23762
Gene name	Oxysterol binding protein 2
Gene symbol	OSBP2
Synonyms (NCBI Gene)	HLMORP-4ORP4OSBPL1OSBPL4
Chromosome	22
Chromosome location	22q12.2
Summary	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019405	hsa-miR-148b-3p	Microarray	17612493
MIRT023395	hsa-miR-122-5p	Microarray	17612493
MIRT543987	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT543986	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT543985	hsa-miR-1285-5p	PAR-CLIP	20371350
MIRT563362	hsa-miR-4423-3p	PAR-CLIP	20371350
MIRT543984	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT543983	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT543987	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT543986	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543985	hsa-miR-1285-5p	PAR-CLIP	21572407
MIRT543984	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT543983	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT543987	hsa-miR-410-3p	PAR-CLIP	20371350
MIRT543986	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT543985	hsa-miR-1285-5p	PAR-CLIP	20371350
MIRT563362	hsa-miR-4423-3p	PAR-CLIP	20371350
MIRT543984	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT543983	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT543987	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT543986	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543985	hsa-miR-1285-5p	PAR-CLIP	21572407
MIRT543984	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT543983	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT1205842	hsa-miR-1206	CLIP-seq
MIRT1205843	hsa-miR-1226	CLIP-seq
MIRT1205844	hsa-miR-137	CLIP-seq
MIRT1205845	hsa-miR-1587	CLIP-seq
MIRT1205846	hsa-miR-185	CLIP-seq
MIRT1205847	hsa-miR-3135b	CLIP-seq
MIRT1205848	hsa-miR-3145-5p	CLIP-seq
MIRT1205849	hsa-miR-3148	CLIP-seq
MIRT1205850	hsa-miR-3194-3p	CLIP-seq
MIRT1205851	hsa-miR-3616-3p	CLIP-seq
MIRT1205852	hsa-miR-3652	CLIP-seq
MIRT1205853	hsa-miR-3664-5p	CLIP-seq
MIRT1205854	hsa-miR-375	CLIP-seq
MIRT1205855	hsa-miR-378g	CLIP-seq
MIRT1205856	hsa-miR-3925-5p	CLIP-seq
MIRT1205857	hsa-miR-3926	CLIP-seq
MIRT1205858	hsa-miR-409-5p	CLIP-seq
MIRT1205859	hsa-miR-4260	CLIP-seq
MIRT1205860	hsa-miR-4306	CLIP-seq
MIRT1205861	hsa-miR-4430	CLIP-seq
MIRT1205862	hsa-miR-4488	CLIP-seq
MIRT1205863	hsa-miR-4492	CLIP-seq
MIRT1205864	hsa-miR-4498	CLIP-seq
MIRT1205865	hsa-miR-4505	CLIP-seq
MIRT1205866	hsa-miR-4528	CLIP-seq
MIRT1205867	hsa-miR-4640-5p	CLIP-seq
MIRT1205868	hsa-miR-4644	CLIP-seq
MIRT1205869	hsa-miR-4656	CLIP-seq
MIRT1205870	hsa-miR-4675	CLIP-seq
MIRT1205871	hsa-miR-4690-3p	CLIP-seq
MIRT1205872	hsa-miR-4697-5p	CLIP-seq
MIRT1205873	hsa-miR-4717-3p	CLIP-seq
MIRT1205874	hsa-miR-4721	CLIP-seq
MIRT1205875	hsa-miR-4726-3p	CLIP-seq
MIRT1205876	hsa-miR-4726-5p	CLIP-seq
MIRT1205877	hsa-miR-4731-5p	CLIP-seq
MIRT1205878	hsa-miR-4733-3p	CLIP-seq
MIRT1205879	hsa-miR-4741	CLIP-seq
MIRT1205880	hsa-miR-4762-5p	CLIP-seq
MIRT1205881	hsa-miR-486-3p	CLIP-seq
MIRT1205882	hsa-miR-589	CLIP-seq
MIRT1205883	hsa-miR-628-5p	CLIP-seq
MIRT1205884	hsa-miR-637	CLIP-seq
MIRT1205885	hsa-miR-762	CLIP-seq
MIRT1205845	hsa-miR-1587	CLIP-seq
MIRT2059321	hsa-miR-2052	CLIP-seq
MIRT2059322	hsa-miR-3151	CLIP-seq
MIRT1205858	hsa-miR-409-5p	CLIP-seq
MIRT2059323	hsa-miR-4437	CLIP-seq
MIRT2059324	hsa-miR-4652-3p	CLIP-seq
MIRT2059325	hsa-miR-4674	CLIP-seq
MIRT1205873	hsa-miR-4717-3p	CLIP-seq
MIRT1205880	hsa-miR-4762-5p	CLIP-seq
MIRT2059326	hsa-miR-548c-3p	CLIP-seq
MIRT2059327	hsa-miR-760	CLIP-seq
MIRT2287618	hsa-miR-1225-3p	CLIP-seq
MIRT2287619	hsa-miR-28-5p	CLIP-seq
MIRT2287620	hsa-miR-3137	CLIP-seq
MIRT2287621	hsa-miR-3139	CLIP-seq
MIRT1205858	hsa-miR-409-5p	CLIP-seq
MIRT2287622	hsa-miR-4323	CLIP-seq
MIRT1205873	hsa-miR-4717-3p	CLIP-seq
MIRT1205880	hsa-miR-4762-5p	CLIP-seq
MIRT2287623	hsa-miR-708	CLIP-seq
MIRT2391929	hsa-miR-10a	CLIP-seq
MIRT2391930	hsa-miR-10b	CLIP-seq
MIRT2391931	hsa-miR-3117-3p	CLIP-seq
MIRT2391932	hsa-miR-3169	CLIP-seq
MIRT2391933	hsa-miR-4679	CLIP-seq
MIRT2391934	hsa-miR-4725-5p	CLIP-seq
MIRT2391935	hsa-miR-4759	CLIP-seq
MIRT2391936	hsa-miR-504	CLIP-seq
MIRT2391937	hsa-miR-651	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001669	Component	Acrosomal vesicle	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0008289	Function	Lipid binding	IEA
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	17428193
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032934	Function	Sterol binding	IEA
GO:0097038	Component	Perinuclear endoplasmic reticulum	IBA
GO:0097440	Component	Apical dendrite	IEA

MIM	HGNC	e!Ensembl
606729	8504	ENSG00000184792

Q969R2

Protein name

Oxysterol-binding protein 2 (Oxysterol-binding protein-related protein 4) (ORP-4) (OSBP-related protein 4)

Protein function

Binds 7-ketocholesterol (PubMed:11278871). Acts during spermatid development where its function is required prior to the removal of cytoplasm from the sperm head (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00169	PH	183 → 274	PH domain	Domain
PF01237	Oxysterol_BP	522 → 902	Oxysterol-binding protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed mainly in retina, testis, and fetal liver. {ECO:0000269|PubMed:11278871}.

Sequence

MGKAAAPSRGGGCGGRSRGLSSLFTVVPCLSCHTAAPGMSASTSGSGPEPKPQPQPVPEP
ERGPLSEQVSEAVSEAVPRSEPVSETTSEPEPGAGQPSELLQGSRPGSESSSGVGAGPFT
KAASEPLSRAVGSATFLRPESGSLPALKPLPLLRPGQAKTPLGVPMSGTGTTSSAPLALL
PLDSFEGWLLKWTNYLKGYQRRWFVLGNGLLSYYRNQGEMAHTCRGTINLSTAHIDTEDS
CGILLTSGARSYHLKASSEVDRQQWITALELAKAKAVRVMNTHSDDSGDDDEATTPADKS
ELHHTLKNLSLKLDDLSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLF
RITSNAMINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSA
PGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGST
GTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWSIMKNCIGRELSRIPM
PVNFNEPLSMLQRLTEDLEYHHLLDKAVHCTSSVEQMCLVAAFSVSSYSTTVHRIAKPFN
PMLGETFELDRLDDMGLRSLCEQVSHHPPSAAHYVFSKHGWSLWQEITISSKFRGKYISI
MPLGAIHLEFQASGNHYVWRKSTSTVHNIIVGKLWIDQSGDIEIVNHKTNDRCQLKFLPY
SYFSKEAARKVTGVVSDSQGKAHYVLSGSWDEQMECSKVMHSSPSSPSSDGKQKTVYQTL
SAKLLWKKYPLPENAENMYYFSELALTLNEHEEGVAPTDSRLRPDQRLMEKGRWDEANTE
KQRLEEKQRLSRRRRLEACGPGSSCSSEEEKEADAYTPLWFEKRLDPLTGEMACVYKGGY
WEAKEKQDWHMCPNIF

Sequence length

916

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	BEFREE	18294060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	18294060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37903971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	21763455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31317296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31317296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	11295104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	31222725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11295104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	12964051		★★★★★ ★☆☆☆☆ Found in Text Mining only

OSBP2 (oxysterol binding protein 2)