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] See more...

Aliases for OSBP2 Gene

Aliases for OSBP2 Gene

  • Oxysterol Binding Protein 2 2 3 5
  • ORP-4 2 3 4
  • ORP4 2 3 4
  • Oxysterol-Binding Protein-Related Protein 4 3 4
  • Oxysterol-Binding Protein 2 3 4
  • OSBP-Related Protein 4 3 4
  • KIAA1664 2 4
  • OSBPL4 3 4
  • Oxysterol Binding Protein-Like 1 3
  • OSBPL1 3
  • OSBP2 5
  • 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 Osteogenesis Imperfecta, Type X and Osteogenesis Imperfecta, Type V. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBP.

UniProtKB/Swiss-Prot Summary for OSBP2 Gene

Gene Wiki entry for OSBP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OSBP2 Gene

Genomics for OSBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OSBP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OSBP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OSBP2

Top Transcription factor binding sites by QIAGEN in the OSBP2 gene promoter:
  • AhR
  • c-Myb
  • E47
  • Pax-3
  • Pax-4a
  • Pax-5
  • Pax-6
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

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)
Size:
214,043 bases
Orientation:
Plus strand

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 StructureGene Density

RefSeq DNA sequence for OSBP2 Gene

Proteins for OSBP2 Gene

  • 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

neXtProt entry for OSBP2 Gene

Post-translational modifications for OSBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for OSBP2 Gene

Domains & Families for OSBP2 Gene

Protein Domains for OSBP2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • Oxysterol-binding protein
ProtoNet:

Suggested Antigen Peptide Sequences for OSBP2 Gene

GenScript: Design optimal peptide antigens:
  • Oxysterol-binding protein (B4DFA8_HUMAN)
  • Oxysterol-binding protein (B4DKE4_HUMAN)
  • Oxysterol-binding protein (B4DTR3_HUMAN)
  • Oxysterol-binding protein (F5H2A3_HUMAN)
  • Oxysterol-binding protein-related protein 4 (OSBP2_HUMAN)

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

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 IBA 21873635
GO:0015248 sterol transporter activity IBA 21873635
GO:0015485 cholesterol binding IDA 17428193
GO:0032934 sterol binding IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSBP2

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
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for OSBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IBA 21873635
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IBA 21873635
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
GO:0097038 perinuclear endoplasmic reticulum IBA 21873635
genes like me logo Genes that share ontologies with OSBP2: view

Pathways & Interactions for OSBP2 Gene

PathCards logo

SuperPathways for OSBP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OSBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0007286 spermatid development IEA --
GO:0015918 sterol transport 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

No Compound Related Data Available

Transcripts for OSBP2 Gene

mRNA/cDNA for OSBP2 Gene

7 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSBP2

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

Expression for OSBP2 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Liver(3)
  • Skin(2.9)
  • Blood(2.6)
  • Intestine(2.4)
  • Adrenal gland(2.3)
  • Eye(2.2)
  • Heart(2.2)
  • Muscle(2)
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 30 31
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OSBP2 30 31
  • 89.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Osbp2 30
  • 86.69 (n)
Cow
(Bos Taurus)
Mammalia OSBP2 30 31
  • 85.57 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Osbp2 30 17 31
  • 85.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OSBP2 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia OSBP2 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves OSBP2 30 31
  • 76.24 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OSBP2 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia osbp2 30
  • 69 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-106a19.1 30
  • 69.76 (n)
OSBP2 (1 of 2) 31
  • 68 (a)
OneToMany
osbp2 31
  • 66 (a)
OneToMany
Dr.19662 30
Fruit Fly
(Drosophila melanogaster)
Insecta Osbp 30 31 32
  • 57.63 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010893 30
  • 39.94 (n)
Worm
(Caenorhabditis elegans)
Secernentea obr-1 30 31
  • 52.87 (n)
OneToMany
Y47D3A.17a 32
  • 44 (a)
Y47D3A.17b 32
  • 43 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWH1 31
  • 20 (a)
ManyToMany
OSH2 31 33
  • 19 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ORP1C 30
  • 49.42 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 57 (a)
OneToMany
Species where no ortholog for OSBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for OSBP2: view image

Paralogs for OSBP2 Gene

(3) SIMAP similar genes for OSBP2 Gene using alignment to 16 proteins:

  • OSBP2_HUMAN
  • B0QYF9_HUMAN
  • B4DFA8_HUMAN
  • B4DKE4_HUMAN
  • B4DTR3_HUMAN
  • C9J7J0_HUMAN
  • C9JS84_HUMAN
  • F5H2A3_HUMAN
  • H7C001_HUMAN
  • H7C1R2_HUMAN
  • H7C313_HUMAN
  • H7C368_HUMAN
  • H7C428_HUMAN
  • Q0VF99_HUMAN
  • Q6ZN50_HUMAN
  • Q8NA37_HUMAN
genes like me logo Genes that share paralogs with OSBP2: view

Variants for OSBP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OSBP2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
709619 Benign: not provided 30,889,243(+) G/C NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
712285 Benign: not provided 30,695,278(+) A/G SYNONYMOUS_VARIANT,INTRON_VARIANT
717865 Benign: not provided 30,890,856(+) T/C SYNONYMOUS_VARIANT
775453 Benign: not provided 30,893,490(+) G/C MISSENSE_VARIANT
777683 Benign: not provided 30,870,565(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for OSBP2 Gene

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

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

- 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
Open Targets Platform
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 23
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  3. 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 41
  4. 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 41
  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 41

Products for OSBP2 Gene

Sources for OSBP2 Gene