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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. Diseases associated with OSBPL7 include Simpson-Golabi-Behmel Syndrome, Type 1. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBPL6.

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

Genomics for OSBPL7 Gene

Regulatory Elements for OSBPL7 Gene

Enhancers for OSBPL7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F047808 1.2 Ensembl ENCODE 25.9 +11.3 11259 3.4 PKNOX1 ZFP64 FOS ZNF263 ZNF202 REST TBX21 ZNF623 ZNF518A MBD2 MRPL45P2 SCRN2 OSBPL7 LRRC46 ENSG00000264701 MRPL10 SKAP1 ENSG00000253347 SP2-AS1 LRRC37A17P
GH17F047700 1.7 FANTOM5 Ensembl ENCODE 14 +116.8 116849 9.3 HDGF PKNOX1 ARNT FEZF1 ZNF2 CBX5 ZNF263 MCM3 SP3 SP5 TBKBP1 ENSG00000253347 LRRC37A17P OSBPL7 MRPL45P2 SCRN2 ENSG00000264701 KPNB1 TBX21 EFCAB13
GH17F047864 0.9 Ensembl ENCODE 23.3 -43.3 -43278 1.0 PKNOX1 ZMYM3 RAD21 YY1 NR2F2 SMARCA4 ATF3 PBX2 HNF4G FOXP2 OSBPL7 SCRN2 SP2 PNPO SP2-AS1 PRR15L ENSG00000264243 SP6
GH17F047842 1.2 Ensembl ENCODE 13.8 -22.3 -22301 2.4 PKNOX1 WRNIP1 ARID4B GLIS2 GATA2 ZNF143 ZNF263 REST MBD2 MEF2D SCRN2 OSBPL7 SKAP1 TBX21 MRPL10 ENSG00000264243
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OSBPL7 on UCSC Golden Path with GeneCards custom track

Promoters for OSBPL7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001347975 334 1401 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS ZNF263 SP3

Genomic Location for OSBPL7 Gene

47,807,367 bp from pter
47,821,834 bp from pter
14,468 bases
Minus strand

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

    Protein attributes for OSBPL7 Gene

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

    Alternative splice isoforms for OSBPL7 Gene


neXtProt entry for OSBPL7 Gene

Post-translational modifications for OSBPL7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for OSBPL7 Gene

Domains & Families for OSBPL7 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 PH domain.
  • Belongs to the OSBP family.
  • Contains 1 PH domain.
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL7: view

Function 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: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

Animal Model Products

miRNA for OSBPL7 Gene

miRTarBase miRNAs that target OSBPL7

Inhibitory RNA Products

Flow Cytometry 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

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

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 IDA 14593528
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:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0010506 regulation of autophagy NAS 21669198
GO:0071397 cellular response to cholesterol IMP 21669198
GO:1901800 positive regulation of proteasomal protein catabolic process IMP 21669198
genes like me logo Genes that share ontologies with OSBPL7: view

No data available for SIGNOR curated interactions for OSBPL7 Gene

Transcripts for OSBPL7 Gene

Unigene Clusters for OSBPL7 Gene

Oxysterol binding protein-like 7:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: - - - - - - - - -
SP4: - -
SP7: - - - - - - - - - - - - - - - - - -

ExUns: 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c
SP2: - - - -
SP5: -

Relevant External Links for OSBPL7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OSBPL7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:


SOURCE GeneReport for Unigene cluster for OSBPL7 Gene:


mRNA Expression by UniProt/SwissProt for OSBPL7 Gene:

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.
genes like me logo Genes that share expression patterns with OSBPL7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
(Pan troglodytes)
Mammalia OSBPL7 34 35
  • 97.94 (n)
(Bos Taurus)
Mammalia OSBPL7 34 35
  • 90.34 (n)
(Canis familiaris)
Mammalia OSBPL7 34 35
  • 90.1 (n)
(Ornithorhynchus anatinus)
Mammalia OSBPL7 35
  • 88 (a)
(Rattus norvegicus)
Mammalia Osbpl7 34
  • 87.67 (n)
(Mus musculus)
Mammalia Osbpl7 34 16 35
  • 87.57 (n)
(Monodelphis domestica)
Mammalia OSBPL7 35
  • 73 (a)
(Gallus gallus)
Aves OSBPL7 34 35
  • 69.71 (n)
(Anolis carolinensis)
Reptilia OSBPL7 35
  • 67 (a)
(Danio rerio)
Actinopterygii osbpl7 35
  • 42 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3351 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6737 35
  • 35 (a)
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

Gene Tree for OSBPL7 (if available)
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 Sequence Context AA Info Type
rs1008933 -- 47,807,195(+) caatg(C/T)gacct downstream-variant-500B
rs1008934 -- 47,807,480(+) AAGGC(C/G)GGGCT utr-variant-3-prime
rs1018903 -- 47,812,474(-) GGGCT(C/T)GACTT intron-variant
rs10531092 -- 47,823,214(+) ATTAA(-/TA)GAGAA downstream-variant-500B, upstream-variant-2KB
rs1053798 -- 47,807,621(-) CCATG(A/G)GGAGG utr-variant-3-prime

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

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

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)

Relevant External Links for OSBPL7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for OSBPL7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OSBPL7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
simpson-golabi-behmel syndrome, type 1
  • simpson-golabi-behmel syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for OSBPL7

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with OSBPL7: view

No data available for 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 V.M. (Cell Tissue Res. 2004) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. A family of 12 human genes containing oxysterol-binding domains. (PMID: 11735225) Jaworski C.J. … Rodriguez I.R. (Genomics 2001) 2 3 64

Products for OSBPL7 Gene

Sources for OSBPL7 Gene

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