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Aliases for OSBPL7 Gene

Aliases for OSBPL7 Gene

  • Oxysterol Binding Protein Like 7 2 3 5
  • OSBP-Related Protein 7 3 4
  • ORP-7 3 4
  • ORP7 3 4
  • Oxysterol-Binding Protein-Related Protein 7 3
  • Oxysterol Binding Protein-Like 7 2

External Ids for OSBPL7 Gene

Previous GeneCards Identifiers for OSBPL7 Gene

  • GC17M045590
  • GC17M048365
  • GC17M046226
  • GC17M046359
  • GC17M043239
  • GC17M045884
  • GC17M041255

Summaries for OSBPL7 Gene

Entrez Gene Summary for OSBPL7 Gene

  • This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for OSBPL7 Gene

OSBPL7 (Oxysterol Binding Protein Like 7) is a Protein Coding gene. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBPL6.

Additional gene information for OSBPL7 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBPL7 Gene

Genomics for OSBPL7 Gene

GeneHancer (GH) Regulatory Elements for OSBPL7 Gene

Promoters and enhancers for OSBPL7 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
GH17I047819 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 559.8 +0.6 551 3.6 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B POLR2B E2F8 OSBPL7 LRRC46 SP2 SKAP1 ENSG00000264701 EFCAB13 MRPL45P2 ENSG00000266601 RPS2P47 KPNB1
GH17I047728 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.7 +88.8 88800 8.4 HDGF IRF4 GLIS2 ZNF143 ATF7 RUNX3 ZC3H11A GLIS1 NBN CTCF TBX21 TBKBP1 OSBPL7 SCRN2 EFCAB13 MRPL45P2 SP2 RPS2P47 KPNB1 ENSG00000264701
GH17I047808 Enhancer 1.3 Ensembl ENCODE dbSUPER 25.9 +11.3 11259 3.4 PKNOX1 ATF1 FOXA2 ARNT NEUROD1 SIN3A ZBTB7B TCF12 FOS ATF7 PIR42414 OSBPL7 LRRC46 SCRN2 MRPL10 SKAP1
GH17I047839 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.9 -19.3 -19269 2.7 HDGF SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B SCRN2 PIR51547 LRRC46 OSBPL7 SKAP1 LOC102724532
GH17I047828 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.8 -8.5 -8484 4.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A YBX1 DMAP1 LRRC46 MRPL10 SCRN2 MRPL45P2 OSBPL7 SKAP1 SP2 HOXB4 ENSG00000266601 PRR15L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OSBPL7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OSBPL7 gene promoter:

Genomic Locations for OSBPL7 Gene

Genomic Locations for OSBPL7 Gene
chr17:47,807,367-47,821,834
(GRCh38/hg38)
Size:
14,468 bases
Orientation:
Minus strand
chr17:45,884,733-45,899,200
(GRCh37/hg19)

Genomic View for OSBPL7 Gene

Genes around OSBPL7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBPL7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBPL7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSBPL7 Gene

Proteins for OSBPL7 Gene

  • Protein details for OSBPL7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZF2-OSBL7_HUMAN
    Recommended name:
    Oxysterol-binding protein-related protein 7
    Protein Accession:
    Q9BZF2
    Secondary Accessions:
    • D3DTT6
    • Q6PIV6

    Protein attributes for OSBPL7 Gene

    Size:
    842 amino acids
    Molecular mass:
    95432 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for OSBPL7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OSBPL7 Gene

Post-translational modifications for OSBPL7 Gene

No Post-translational modifications

No data available for DME Specific Peptides for OSBPL7 Gene

Domains & Families for OSBPL7 Gene

Gene Families for OSBPL7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZF2

UniProtKB/Swiss-Prot:

OSBL7_HUMAN :
  • Belongs to the OSBP family.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL7: view

Function for OSBPL7 Gene

Phenotypes From GWAS Catalog for OSBPL7 Gene

Gene Ontology (GO) - Molecular Function for OSBPL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21669198
GO:0008289 lipid binding IEA --
GO:0015248 sterol transporter activity TAS --
GO:0015485 cholesterol binding IDA 17428193
genes like me logo Genes that share ontologies with OSBPL7: view
genes like me logo Genes that share phenotypes with OSBPL7: view

miRNA for OSBPL7 Gene

miRTarBase miRNAs that target OSBPL7

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OSBPL7 Gene

Localization for OSBPL7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBPL7 Gene

Cytoplasm, cytosol. Endoplasmic reticulum membrane. Cell membrane.

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 OSBPL7 gene
Compartment Confidence
cytosol 5
plasma membrane 4
nucleus 4
endoplasmic reticulum 4

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for OSBPL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005776 autophagosome IDA 21669198
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with OSBPL7: view

Pathways & Interactions for OSBPL7 Gene

genes like me logo Genes that share pathways with OSBPL7: view

Gene Ontology (GO) - Biological Process for OSBPL7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0010506 regulation of autophagy NAS 21669198
GO:0015918 sterol transport IEA --
genes like me logo Genes that share ontologies with OSBPL7: view

No data available for SIGNOR curated interactions for OSBPL7 Gene

Drugs & Compounds for OSBPL7 Gene

No Compound Related Data Available

Transcripts for OSBPL7 Gene

Unigene Clusters for OSBPL7 Gene

Oxysterol binding protein-like 7:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL7 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - - -
SP2: - - - - - - - - -
SP3:
SP4: - -
SP5:
SP6:
SP7: - - - - - - - - - - - - - - - - - -
SP8:
SP9:

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c
SP1:
SP2: - - - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:

Relevant External Links for OSBPL7 Gene

GeneLoc Exon Structure for
OSBPL7
ECgene alternative splicing isoforms for
OSBPL7

Expression for OSBPL7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSBPL7 Gene

Protein differential expression in normal tissues from HIPED for OSBPL7 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (33.0), CD8 Tcells (17.6), Frontal cortex (7.1), and Pancreas (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OSBPL7 Gene



Protein tissue co-expression partners for OSBPL7 Gene

NURSA nuclear receptor signaling pathways regulating expression of OSBPL7 Gene:

OSBPL7

SOURCE GeneReport for Unigene cluster for OSBPL7 Gene:

Hs.463320

mRNA Expression by UniProt/SwissProt for OSBPL7 Gene:

Q9BZF2-OSBL7_HUMAN
Tissue specificity: Expressed in epithelium of small and large intestines (at protein level). Expressed in stomach, duodenum, jejunum, ascending colon, spleen, thymus, lymph node, trachea and leukocytes.

Evidence on tissue expression from TISSUES for OSBPL7 Gene

  • Nervous system(4.2)
  • Blood(4.1)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with OSBPL7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBPL7 Gene

Orthologs for OSBPL7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OSBPL7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSBPL7 33 34
  • 97.94 (n)
cow
(Bos Taurus)
Mammalia OSBPL7 33 34
  • 90.34 (n)
dog
(Canis familiaris)
Mammalia OSBPL7 33 34
  • 90.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL7 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Osbpl7 33
  • 87.67 (n)
mouse
(Mus musculus)
Mammalia Osbpl7 33 16 34
  • 87.57 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBPL7 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL7 33 34
  • 69.71 (n)
lizard
(Anolis carolinensis)
Reptilia OSBPL7 34
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii osbpl7 34
  • 42 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3351 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6737 34
  • 35 (a)
OneToMany
Species where no ortholog for OSBPL7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OSBPL7 Gene

ENSEMBL:
Gene Tree for OSBPL7 (if available)
TreeFam:
Gene Tree for OSBPL7 (if available)

Paralogs for OSBPL7 Gene

Paralogs for OSBPL7 Gene

(4) SIMAP similar genes for OSBPL7 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with OSBPL7: view

Variants for OSBPL7 Gene

Sequence variations from dbSNP and Humsavar for OSBPL7 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000044925 -- 47,811,436(-) C/T intron_variant
rs1000112481 -- 47,807,342(-) T/C downstream_transcript_variant
rs1000902711 -- 47,816,957(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000915323 -- 47,823,033(-) C/T upstream_transcript_variant
rs1001662639 -- 47,821,899(-) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for OSBPL7 Gene

Variant ID Type Subtype PubMed ID
esv23195 CNV loss 19812545
nsv517880 CNV loss 19592680
nsv518892 CNV loss 19592680

Variation tolerance for OSBPL7 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSBPL7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBPL7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBPL7 Gene

Disorders for OSBPL7 Gene

Additional Disease Information for OSBPL7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for OSBPL7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OSBPL7 Gene

Publications for OSBPL7 Gene

  1. Subfamily III of mammalian oxysterol-binding protein (OSBP) homologues: the expression and intracellular localization of ORP3, ORP6, and ORP7. (PMID: 14593528) Lehto M … Olkkonen VM (Cell and tissue research 2004) 2 3 4 22 58
  2. 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
  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 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. A family of 12 human genes containing oxysterol-binding domains. (PMID: 11735225) Jaworski CJ … Rodriguez IR (Genomics 2001) 2 3 58

Products for OSBPL7 Gene

Sources for OSBPL7 Gene

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