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] See more...

Aliases for OSBPL7 Gene

Aliases for OSBPL7 Gene

  • Oxysterol Binding Protein Like 7 2 3 5
  • ORP7 2 3 4
  • Oxysterol-Binding Protein-Related Protein 7 3 4
  • OSBP-Related Protein 7 3 4
  • ORP-7 3 4
  • Oxysterol Binding Protein-Like 7 2
  • MGC71150 2
  • OSBPL7 5

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 Opisthorchiasis and Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1. Among its related pathways are Synthesis of bile acids and bile salts and Metabolism. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OSBPL7 Gene

Genomics for OSBPL7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OSBPL7 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 OSBPL7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OSBPL7

Top Transcription factor binding sites by QIAGEN in the OSBPL7 gene promoter:
  • Arnt
  • GATA-2
  • HOXA5
  • LyF-1
  • NF-E2
  • NF-E2 p45
  • NF-kappaB
  • NF-kappaB1
  • Pax-5
  • STAT5A

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)
Size:
14,468 bases
Orientation:
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:
    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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for OSBPL7 Gene

Domains & Families for OSBPL7 Gene

Gene Families for OSBPL7 Gene

Protein Domains for OSBPL7 Gene

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

Suggested Antigen Peptide Sequences for OSBPL7 Gene

GenScript: Design optimal peptide antigens:
  • Oxysterol-binding protein-related protein 7 (OSBL7_HUMAN)
  • cDNA FLJ76993, highly similar to Homo sapiens oxysterol binding protein-like 7, mRNA (Q6PIV6_HUMAN)
  • Oxysterol-binding protein (Q8WXP9_HUMAN)

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

Animal Model Products

CRISPR Products

miRNA for OSBPL7 Gene

miRTarBase miRNAs that target OSBPL7

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSBPL7

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
extracellular 1
endosome 1
lysosome 1
golgi apparatus 1

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 IDA,TAS --
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:0006869 lipid transport IEA --
GO:0010506 regulation of autophagy NAS 21669198
GO:0015918 sterol transport IEA --
GO:0071397 cellular response to cholesterol IMP 21669198
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

mRNA/cDNA for OSBPL7 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
11 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 OSBPL7

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

Expression for OSBPL7 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for OSBPL7 Gene



Protein tissue co-expression partners for OSBPL7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Blood(4.3)
  • Nervous system(4.2)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with OSBPL7: view

No data available for 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 30 31
  • 97.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OSBPL7 30 31
  • 90.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OSBPL7 30 31
  • 90.1 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL7 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Osbpl7 30
  • 87.67 (n)
Mouse
(Mus musculus)
Mammalia Osbpl7 30 17 31
  • 87.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OSBPL7 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves OSBPL7 30 31
  • 69.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OSBPL7 31
  • 67 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii osbpl7 31
  • 42 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3351 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6737 31
  • 35 (a)
OneToMany
Species where no ortholog for OSBPL7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for OSBPL7: view image

Paralogs for OSBPL7 Gene

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

  • OSBL7_HUMAN
  • J3QLK7_HUMAN
  • J3QSC2_HUMAN
  • Q6PIV6_HUMAN
  • Q8WXP9_HUMAN
genes like me logo Genes that share paralogs with OSBPL7: view

Variants for OSBPL7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OSBPL7 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1016471339 Uncertain Significance: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 47,816,148(-) C/T MISSENSE_VARIANT
rs35437144 - p.Thr156Ile
rs8071195 - p.Ala169Glu
rs8076196 - p.Met148Ile

Additional dbSNP identifiers (rs#s) for OSBPL7 Gene

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

MalaCards: The human disease database

(3) MalaCards diseases for OSBPL7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
opisthorchiasis
  • infection by opisthorchis
encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • empf1
adult medulloblastoma
  • adult brain medulloblastoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for OSBPL7

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 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 VM (Cell and tissue research 2004) 2 3 4 23
  2. 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
  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 41
  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
  5. The OSBP-related protein family in humans. (PMID: 11483621) Lehto M … Olkkonen VM (Journal of lipid research 2001) 3 4

Products for OSBPL7 Gene

Sources for OSBPL7 Gene