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OSBP2 Gene(Protein Coding)

Oxysterol Binding Protein 2

GCID:
GC22P030693
GIFtS:
47
Genes Participants
UDN Logo

Aliases for OSBP2 Gene

Aliases for OSBP2 Gene

  • Oxysterol Binding Protein 2 2 3 5
  • Oxysterol-Binding Protein-Related Protein 4 3 4
  • OSBP-Related Protein 4 3 4
  • OSBPL4 3 4
  • ORP-4 3 4
  • ORP4 3 4
  • Oxysterol Binding Protein-Like 1 3
  • Oxysterol-Binding Protein 2 3
  • KIAA1664 4
  • OSBPL1 3
  • HLM 3

External Ids for OSBP2 Gene

Previous HGNC Symbols for OSBP2 Gene

  • OSBPL1

Previous GeneCards Identifiers for OSBP2 Gene

  • GC22P027786
  • GC22P029415
  • GC22P031089
  • GC22P014053

Summaries for OSBP2 Gene

Entrez Gene Summary for OSBP2 Gene

  • 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 isoforms have been observed for this gene. [provided by RefSeq, Sep 2013]

GeneCards Summary for OSBP2 Gene

OSBP2 (Oxysterol Binding Protein 2) is a Protein Coding gene. Diseases associated with OSBP2 include Peroneal Nerve Paralysis and Pulmonary Hemosiderosis. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBP.

UniProtKB/Swiss-Prot for OSBP2 Gene

  • Binds 7-ketocholesterol.

Gene Wiki entry for OSBP2 Gene

Additional gene information for OSBP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBP2 Gene

Genomics for OSBP2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for OSBP2 Gene

Promoters and enhancers for OSBP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22I030693 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 574.1 +1.1 1080 2.1 RB1 NFIB SIN3A ZNF195 FEZF1 YY1 ZNF335 GLIS2 EGR2 ZNF362 OSBP2 ENSG00000250318 DUSP18 SLC35E4 SEC14L6 MIR3200
GH22I030880 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 550.1 +188.6 188591 3.4 FOXA2 ARID4B ETS1 TCF12 POLR2B GLIS2 GATA2 RXRA NCOA1 MIER2 OSBP2 EIF4HP2 SEC14L4 MTMR3 LOC105372994 PIR52931
GH22I030822 Promoter/Enhancer 1.5 EPDnew Ensembl dbSUPER 550.1 +128.7 128719 0.2 E2F1 L3MBTL2 TARDBP ZFX ZBTB26 EZH2 OSBP2 LOC105372994 MIR3200
GH22I030763 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 550.2 +70.1 70067 0.8 CTCF ZNF654 TRIM22 CEBPB REST RAD21 SCRT2 SMC3 ZNF143 PRDM1 OSBP2 DUSP18 MIR3200 LOC105372994
GH22I030716 Enhancer 1.2 FANTOM5 Ensembl ENCODE 44.2 +25.0 25028 4.2 HDAC1 MEIS2 USF1 JUN TEAD4 ZSCAN4 BATF TCF12 CTBP1 EGR1 OSBP2 SLC35E4 DUSP18 MIR3200
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OSBP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OSBP2 gene promoter:

Genomic Locations for OSBP2 Gene

Genomic Locations for OSBP2 Gene
chr22:30,693,782-30,907,824
(GRCh38/hg38)
Size:
214,043 bases
Orientation:
Plus strand
chr22:31,089,769-31,303,811
(GRCh37/hg19)

Genomic View for OSBP2 Gene

Genes around OSBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for OSBP2 Gene

Proteins for OSBP2 Gene

Products:

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  2. Protein
  3. Assay

  • Protein details for OSBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969R2-OSBP2_HUMAN
    Recommended name:
    Oxysterol-binding protein 2
    Protein Accession:
    Q969R2
    Secondary Accessions:
    • B0QYG1
    • B4DK24
    • B4DKE4
    • B4DTR3
    • F5H2A3
    • O60396
    • Q0VF99
    • Q8NA37
    • Q9BY96
    • Q9BZF0

    Protein attributes for OSBP2 Gene

    Size:
    916 amino acids
    Molecular mass:
    101266 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK56864.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAK56865.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB33334.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for OSBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OSBP2 Gene

Protein Expression for OSBP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for OSBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OSBP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OSBP2 Gene

Domains & Families for OSBP2 Gene

Gene Families for OSBP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for OSBP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for OSBP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969R2

UniProtKB/Swiss-Prot:

OSBP2_HUMAN :
  • Belongs to the OSBP family.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBP2: view

Function for OSBP2 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for OSBP2 Gene

UniProtKB/Swiss-Prot Function:
Binds 7-ketocholesterol.

Phenotypes From GWAS Catalog for OSBP2 Gene

Gene Ontology (GO) - Molecular Function for OSBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008289 lipid binding IEA --
GO:0015485 cholesterol binding IDA 17428193
genes like me logo Genes that share ontologies with OSBP2: view
genes like me logo Genes that share phenotypes with OSBP2: view

Animal Models for OSBP2 Gene

MGI Knock Outs for OSBP2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OSBP2 Gene

Localization for OSBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBP2 Gene

Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OSBP2 gene
Compartment Confidence
cytosol 4
mitochondrion 2
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OSBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0097440 apical dendrite IEA --
genes like me logo Genes that share ontologies with OSBP2: view

Pathways & Interactions for OSBP2 Gene

SuperPathways for OSBP2 Gene

PathCards logo More details on SuperPathways for OSBP2
No Data Available

Gene Ontology (GO) - Biological Process for OSBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0007286 spermatid development IEA --
genes like me logo Genes that share ontologies with OSBP2: view

No data available for Pathways by source and SIGNOR curated interactions for OSBP2 Gene

Drugs & Compounds for OSBP2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for OSBP2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for OSBP2 Gene

(23) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(159) Selected AceView cDNA sequences:
(19) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OSBP2 Gene

Oxysterol binding protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSBP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for OSBP2 Gene

GeneLoc Exon Structure for
OSBP2
ECgene alternative splicing isoforms for
OSBP2

Expression for OSBP2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSBP2 Gene

mRNA expression in normal human tissues for OSBP2 Gene
mRNA expression by GTEx for OSBP2 GenemRNA expression by BioGPS for OSBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OSBP2 Gene

This gene is overexpressed in Whole Blood (x6.2).

Protein differential expression in normal tissues from HIPED for OSBP2 Gene

This gene is overexpressed in Testis (17.2), Pancreatic juice (15.4), Frontal cortex (10.1), Colon muscle (10.0), and Peripheral blood mononuclear cells (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for OSBP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of OSBP2 Gene:

OSBP2

SOURCE GeneReport for Unigene cluster for OSBP2 Gene:

Hs.517546

mRNA Expression by UniProt/SwissProt for OSBP2 Gene:

Q969R2-OSBP2_HUMAN
Tissue specificity: Expressed mainly in retina, testis, and fetal liver.

Evidence on tissue expression from TISSUES for OSBP2 Gene

  • Nervous system(4.6)
  • Liver(3)
genes like me logo Genes that share expression patterns with OSBP2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBP2 Gene

Orthologs for OSBP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OSBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia OSBP2 33 34
  • 99.33 (n)
dog
(Canis familiaris)
 Mammalia OSBP2 33 34
  • 89.18 (n)
rat
(Rattus norvegicus)
 Mammalia Osbp2 33
  • 86.69 (n)
cow
(Bos Taurus)
 Mammalia OSBP2 33 34
  • 85.57 (n)
mouse
(Mus musculus)
 Mammalia Osbp2 33 16 34
  • 85.42 (n)
oppossum
(Monodelphis domestica)
 Mammalia OSBP2 34
  • 73 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia OSBP2 34
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves OSBP2 33 34
  • 76.24 (n)
lizard
(Anolis carolinensis)
 Reptilia OSBP2 34
  • 69 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia osbp2 33
  • 69 (n)
zebrafish
(Danio rerio)
 Actinopterygii si:ch211-106a19.1 33
  • 69.76 (n)
OSBP2 (1 of 2) 34
  • 68 (a)
 OneToMany
osbp2 34
  • 66 (a)
 OneToMany
Dr.19662 33
fruit fly
(Drosophila melanogaster)
 Insecta Osbp 35 33 34
  • 57.63 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010893 33
  • 39.94 (n)
worm
(Caenorhabditis elegans)
 Secernentea obr-1 33 34
  • 52.87 (n)
Y47D3A.17a 35
  • 44 (a)
Y47D3A.17b 35
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SWH1 34
  • 20 (a)
 ManyToMany
OSH2 34 36
  • 19 (a)
 ManyToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons ORP1C 33
  • 49.42 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 57 (a)
 OneToMany
Species where no ortholog for OSBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OSBP2 Gene

ENSEMBL:
Gene Tree for OSBP2 (if available)
TreeFam:
Gene Tree for OSBP2 (if available)

Paralogs for OSBP2 Gene

Variants for OSBP2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for OSBP2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000006572 -- 30,832,326(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000051704 -- 30,869,817(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000063537 -- 30,903,813(+) C/G intron_variant
rs1000064524 -- 30,826,313(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000068484 -- 30,845,411(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for OSBP2 Gene

Variant ID Type Subtype PubMed ID
esv2500485 CNV deletion 19546169
esv2724137 CNV deletion 23290073
esv2763260 CNV gain 21179565
esv3568356 CNV loss 25503493
esv3647568 CNV gain 21293372
esv3647569 CNV gain 21293372
esv3647570 CNV loss 21293372
esv3647571 CNV loss 21293372
esv3647572 CNV loss 21293372
esv3647573 CNV gain 21293372
esv3647574 CNV loss 21293372
esv3647575 CNV gain 21293372
nsv1110864 OTHER inversion 24896259
nsv1139055 CNV deletion 24896259
nsv1139056 CNV deletion 24896259
nsv520242 CNV gain+loss 19592680
nsv522377 CNV gain 19592680
nsv524629 CNV gain 19592680
nsv588888 CNV loss 21841781

Variation tolerance for OSBP2 Gene

Residual Variation Intolerance Score: 61.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSBP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBP2 Gene

Disorders for OSBP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for OSBP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
peroneal nerve paralysis
  • peroneal nerve palsy
pulmonary hemosiderosis
  • hemosiderosis, pulmonary, with deficiency of gamma-a globulin
- elite association - COSMIC cancer census association via MalaCards
Search OSBP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OSBP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OSBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OSBP2 Gene

Publications for OSBP2 Gene

  1. Molecular and biochemical characterization of a novel oxysterol-binding protein (OSBP2) highly expressed in retina. (PMID: 11278871) Moreira EF … Rodriguez IR (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Mutation analysis of oxisterol-binding-protein gene in patients with age-related macular degeneration. (PMID: 18294060) Torrini M … Mareni C (Genetic testing 2007) 3 44 58

Products for OSBP2 Gene

Sources for OSBP2 Gene

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