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Aliases for OSBPL6 Gene

Aliases for OSBPL6 Gene

  • Oxysterol Binding Protein Like 6 2 3 5
  • OSBP-Related Protein 6 2 3 4
  • ORP-6 3 4
  • ORP6 3 4
  • Oxysterol-Binding Protein-Related Protein 6 3
  • Oxysterol Binding Protein-Like 6 2

External Ids for OSBPL6 Gene

Previous GeneCards Identifiers for OSBPL6 Gene

  • GC02P177121
  • GC02P177730
  • GC02P179023
  • GC02P179261
  • GC02P178884
  • GC02P178767
  • GC02P170932

Summaries for OSBPL6 Gene

Entrez Gene Summary for OSBPL6 Gene

  • This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for OSBPL6 Gene

OSBPL6 (Oxysterol Binding Protein Like 6) 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 lipid binding. An important paralog of this gene is OSBPL3.

UniProtKB/Swiss-Prot for OSBPL6 Gene

  • Weakly binds 25-hydroxycholesterol.

Additional gene information for OSBPL6 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBPL6 Gene

Genomics for OSBPL6 Gene

GeneHancer (GH) Regulatory Elements for OSBPL6 Gene

Promoters and enhancers for OSBPL6 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
GH02J178193 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 658.1 +0.2 246 2.6 FOXA2 MLX ARID4B SIN3A ZNF2 YY1 ZNF263 SP5 REST ZNF592 OSBPL6 HNRNPA3 LOC101927027 RBM45 GC02M178202
GH02J178284 Promoter 0.9 EPDnew 650.2 +90.4 90414 0.1 ATF1 TEAD4 CBFA2T3 DPF2 GABPA GABPB1 CBFA2T2 KDM1A CREM GC02M178285 OSBPL6 GC02M178241
GH02J178241 Enhancer 1.1 Ensembl ENCODE 17.5 +48.0 48010 2.2 PKNOX1 ATF1 ARNT BRCA1 YY1 FOS ATF7 SP3 RXRA TSHZ1 GC02M178241 OSBPL6 GC02M178285
GH02J178281 Enhancer 0.6 ENCODE 19.9 +87.8 87775 1 HDAC1 FOXA2 NFIB TEAD4 ZEB2 FOXA1 NFIC CTBP1 IKZF1 HMBOX1 OSBPL6 GC02M178285 GC02M178241
GH02J178152 Enhancer 0.8 ENCODE 10.5 -41.3 -41347 1.7 FOXA2 MAX ERF CEBPG RAD21 RARA YY1 HNF4G MAFK THAP11 OSBPL6 GC02M178161 RNU5E-9P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OSBPL6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OSBPL6 gene promoter:

Genomic Locations for OSBPL6 Gene

Genomic Locations for OSBPL6 Gene
chr2:178,194,481-178,402,891
(GRCh38/hg38)
Size:
208,411 bases
Orientation:
Plus strand
chr2:179,059,208-179,264,160
(GRCh37/hg19)

Genomic View for OSBPL6 Gene

Genes around OSBPL6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBPL6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBPL6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSBPL6 Gene

Proteins for OSBPL6 Gene

  • Protein details for OSBPL6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZF3-OSBL6_HUMAN
    Recommended name:
    Oxysterol-binding protein-related protein 6
    Protein Accession:
    Q9BZF3
    Secondary Accessions:
    • B4DTW1
    • C4AMC0
    • C4AME4
    • D3DPF6
    • D3DPF7
    • Q4ZG68
    • Q53T68
    • Q59H61
    • Q7Z4Q1
    • Q86V84
    • Q8N9T0
    • Q96SR1

    Protein attributes for OSBPL6 Gene

    Size:
    934 amino acids
    Molecular mass:
    106306 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB55223.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92135.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for OSBPL6 Gene

neXtProt entry for OSBPL6 Gene

Post-translational modifications for OSBPL6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for OSBPL6 Gene

Domains & Families for OSBPL6 Gene

Gene Families for OSBPL6 Gene

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

Suggested Antigen Peptide Sequences for OSBPL6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZF3

UniProtKB/Swiss-Prot:

OSBL6_HUMAN :
  • Belongs to the OSBP family.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL6: view

Function for OSBPL6 Gene

Molecular function for OSBPL6 Gene

UniProtKB/Swiss-Prot Function:
Weakly binds 25-hydroxycholesterol.

Phenotypes From GWAS Catalog for OSBPL6 Gene

Gene Ontology (GO) - Molecular Function for OSBPL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22190034
GO:0008289 lipid binding IEA --
GO:0015248 sterol transporter activity TAS --
genes like me logo Genes that share ontologies with OSBPL6: view
genes like me logo Genes that share phenotypes with OSBPL6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSBPL6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OSBPL6 Gene

Localization for OSBPL6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSBPL6 Gene

Cytoplasm, cytosol. Endoplasmic reticulum membrane; Peripheral membrane protein. Nucleus envelope. Cell 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 OSBPL6 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 5
plasma membrane 4
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for OSBPL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with OSBPL6: view

Pathways & Interactions for OSBPL6 Gene

genes like me logo Genes that share pathways with OSBPL6: view

Gene Ontology (GO) - Biological Process for OSBPL6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0006869 lipid transport IEA --
GO:0015918 sterol transport IEA --
genes like me logo Genes that share ontologies with OSBPL6: view

No data available for SIGNOR curated interactions for OSBPL6 Gene

Drugs & Compounds for OSBPL6 Gene

No Compound Related Data Available

Transcripts for OSBPL6 Gene

Unigene Clusters for OSBPL6 Gene

Oxysterol binding protein-like 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSBPL6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL6 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - -
SP6: -
SP7: - - - - - - -

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c · 27d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - - - - - -

Relevant External Links for OSBPL6 Gene

GeneLoc Exon Structure for
OSBPL6
ECgene alternative splicing isoforms for
OSBPL6

Expression for OSBPL6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSBPL6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OSBPL6 Gene

This gene is overexpressed in Muscle - Skeletal (x9.7).

Protein differential expression in normal tissues from HIPED for OSBPL6 Gene

This gene is overexpressed in Frontal cortex (37.3), Fetal Brain (18.0), and Retina (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OSBPL6 Gene



Protein tissue co-expression partners for OSBPL6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OSBPL6 Gene:

OSBPL6

SOURCE GeneReport for Unigene cluster for OSBPL6 Gene:

Hs.318775

mRNA Expression by UniProt/SwissProt for OSBPL6 Gene:

Q9BZF3-OSBL6_HUMAN
Tissue specificity: Expressed in brain and striated muscle (at protein level) (PubMed:14593528). Widely expressed (PubMed:11735225). Expressed in skeletal muscle (PubMed:14593528).

Evidence on tissue expression from TISSUES for OSBPL6 Gene

  • Nervous system(4.4)
  • Lung(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with OSBPL6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBPL6 Gene

Orthologs for OSBPL6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for OSBPL6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSBPL6 34 33
  • 98.67 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia OSBPL6 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OSBPL6 34 33
  • 93.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OSBPL6 34 33
  • 93.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Osbpl6 16 34 33
  • 89.99 (n)
rat
(Rattus norvegicus)
Mammalia Osbpl6 33
  • 89.33 (n)
chicken
(Gallus gallus)
Aves OSBPL6 34 33
  • 82.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBPL6 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl6 33
  • 78.16 (n)
zebrafish
(Danio rerio)
Actinopterygii osbpl6 34 33
  • 71.75 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6737 34
  • 38 (a)
OneToMany
Species where no ortholog for OSBPL6 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)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OSBPL6 Gene

ENSEMBL:
Gene Tree for OSBPL6 (if available)
TreeFam:
Gene Tree for OSBPL6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OSBPL6: view image

Paralogs for OSBPL6 Gene

Paralogs for OSBPL6 Gene

(2) SIMAP similar genes for OSBPL6 Gene using alignment to 5 proteins:

  • OSBL6_HUMAN
  • L8EBA8_HUMAN
  • L8ECL3_HUMAN
  • Q6PJ70_HUMAN
  • Q86V84_HUMAN
genes like me logo Genes that share paralogs with OSBPL6: view

Variants for OSBPL6 Gene

Sequence variations from dbSNP and Humsavar for OSBPL6 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000005501 -- 178,228,636(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000021149 -- 178,254,077(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000035925 -- 178,269,689(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000043618 -- 178,315,047(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000070591 -- 178,334,673(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for OSBPL6 Gene

Variant ID Type Subtype PubMed ID
dgv7186n54 CNV gain 21841781
dgv7187n54 CNV gain 21841781
esv21696 CNV loss 19812545
esv2662653 CNV deletion 23128226
esv3304174 CNV mobile element insertion 20981092
esv3310410 CNV mobile element insertion 20981092
esv3377439 CNV insertion 20981092
esv3423732 CNV insertion 20981092
esv3584191 CNV loss 25503493
esv3584192 CNV loss 25503493
esv3584194 CNV loss 25503493
esv3593485 CNV loss 21293372
esv3593486 CNV gain 21293372
esv3593487 CNV loss 21293372
esv3593488 CNV loss 21293372
esv3593489 CNV loss 21293372
nsv1011423 CNV loss 25217958
nsv3056 CNV insertion 18451855
nsv3057 CNV insertion 18451855
nsv511090 OTHER complex 20534489
nsv583742 CNV loss 21841781
nsv583747 CNV gain+loss 21841781
nsv583751 CNV loss 21841781
nsv583752 CNV gain 21841781
nsv583753 CNV loss 21841781
nsv834466 CNV gain 17160897
nsv834467 CNV loss 17160897

Variation tolerance for OSBPL6 Gene

Residual Variation Intolerance Score: 3.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.24; 70.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSBPL6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBPL6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBPL6 Gene

Disorders for OSBPL6 Gene

Additional Disease Information for OSBPL6

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

No disorders were found for OSBPL6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OSBPL6 Gene

Publications for OSBPL6 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) 3 4 22 58
  2. The OSBP-related protein family in humans. (PMID: 11483621) Lehto M … Olkkonen VM (Journal of lipid research 2001) 2 3 4 58
  3. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E … IMGSAC (Molecular psychiatry 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. A family of 12 human genes containing oxysterol-binding domains. (PMID: 11735225) Jaworski CJ … Rodriguez IR (Genomics 2001) 3 4 58

Products for OSBPL6 Gene

Sources for OSBPL6 Gene

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