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Aliases for OSBPL2 Gene

Aliases for OSBPL2 Gene

  • Oxysterol Binding Protein Like 2 2 3 5
  • Oxysterol Binding Protein-Like 2 2 3
  • OSBP-Related Protein 2 3 4
  • ORP-2 3 4
  • ORP2 3 4
  • Oxysterol-Binding Protein-Like 2 2
  • KIAA0772 4
  • DFNA67 3
  • DNFA67 3

External Ids for OSBPL2 Gene

Previous GeneCards Identifiers for OSBPL2 Gene

  • GC20P060577
  • GC20P061450
  • GC20P061498
  • GC20P060246
  • GC20P060813
  • GC20P057589

Summaries for OSBPL2 Gene

Entrez Gene Summary for OSBPL2 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, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]

GeneCards Summary for OSBPL2 Gene

OSBPL2 (Oxysterol Binding Protein Like 2) is a Protein Coding gene. Diseases associated with OSBPL2 include deafness, autosomal dominant 67 and autosomal dominant non-syndromic sensorineural deafness type dfna. GO annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBP.

UniProtKB/Swiss-Prot for OSBPL2 Gene

  • Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds 25-hydroxycholesterol (PubMed:17428193).

Gene Wiki entry for OSBPL2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSBPL2 Gene

Genomics for OSBPL2 Gene

Regulatory Elements for OSBPL2 Gene

Enhancers for OSBPL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around OSBPL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for OSBPL2 Gene

Chromosome:
20
Start:
62,231,922 bp from pter
End:
62,296,213 bp from pter
Size:
64,292 bases
Orientation:
Plus strand

Genomic View for OSBPL2 Gene

Genes around OSBPL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSBPL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSBPL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSBPL2 Gene

Proteins for OSBPL2 Gene

  • Protein details for OSBPL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1P3-OSBL2_HUMAN
    Recommended name:
    Oxysterol-binding protein-related protein 2
    Protein Accession:
    Q9H1P3
    Secondary Accessions:
    • A8K736
    • Q6IBT0
    • Q9BZB1
    • Q9Y4B8

    Protein attributes for OSBPL2 Gene

    Size:
    480 amino acids
    Molecular mass:
    55201 Da
    Quaternary structure:
    • Interacts with DIAPH1.
    SequenceCaution:
    • Sequence=BAA34492.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for OSBPL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OSBPL2 Gene

Proteomics data for OSBPL2 Gene at MOPED

Post-translational modifications for OSBPL2 Gene

  • Ubiquitination at Lys 209
  • Modification sites at PhosphoSitePlus

Other Protein References for OSBPL2 Gene

No data available for DME Specific Peptides for OSBPL2 Gene

Domains & Families for OSBPL2 Gene

Gene Families for OSBPL2 Gene

Protein Domains for OSBPL2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OSBPL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H1P3

UniProtKB/Swiss-Prot:

OSBL2_HUMAN :
  • Belongs to the OSBP family.
Family:
  • Belongs to the OSBP family.
genes like me logo Genes that share domains with OSBPL2: view

Function for OSBPL2 Gene

Molecular function for OSBPL2 Gene

UniProtKB/Swiss-Prot Function:
Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds 25-hydroxycholesterol (PubMed:17428193).
genes like me logo Genes that share phenotypes with OSBPL2: view

Human Phenotype Ontology for OSBPL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for OSBPL2 Gene

Localization for OSBPL2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OSBPL2 Gene COMPARTMENTS Subcellular localization image for OSBPL2 gene
Compartment Confidence
cytosol 4
nucleus 2
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for OSBPL2 Gene

Pathways & Interactions for OSBPL2 Gene

SuperPathways for OSBPL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OSBPL2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for OSBPL2 Gene

Drugs & Compounds for OSBPL2 Gene

(12) Additional Compounds for OSBPL2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PA(16:0/16:0)
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphorate
  • 1,2-Di-O-palmitoyl-3-sn-glyceryl-O-phosphoric acid
  • 1,2-Dihexadecanoyl-rac-phosphatidic acid
  • 1,2-Dipalmitoyl-3-sn-phosphatidate
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n7)
  • PA(16:0/18:1w7)
PA(16:0/18:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1n9)
  • PA(16:0/18:1w9)
PA(16:0/18:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
  • PA(16:0/18:2n6)
  • PA(16:0/18:2w6)
PA(16:0e/18:0)
  • 2-Octadecanoyl-1-hexadecyl-sn-glycero-3-phosphate
  • PA(O-16:0/18:0)
genes like me logo Genes that share compounds with OSBPL2: view

Transcripts for OSBPL2 Gene

Unigene Clusters for OSBPL2 Gene

Oxysterol binding protein-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OSBPL2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d · 11e · 11f ^ 12 ^ 13a · 13b ^ 14a · 14b ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - - - - - -
SP5: - - - -
SP6: - -
SP7: - -
SP8: -
SP9:
SP10: -
SP11:

ExUns: 14c ^ 15a · 15b ^ 16 ^ 17
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for OSBPL2 Gene

GeneLoc Exon Structure for
OSBPL2
ECgene alternative splicing isoforms for
OSBPL2

Expression for OSBPL2 Gene

mRNA expression in normal human tissues for OSBPL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for OSBPL2 Gene

This gene is overexpressed in Frontal cortex (8.9) and Testis (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for OSBPL2 Gene



SOURCE GeneReport for Unigene cluster for OSBPL2 Gene Hs.473254

mRNA Expression by UniProt/SwissProt for OSBPL2 Gene

Q9H1P3-OSBL2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with OSBPL2: view

Protein tissue co-expression partners for OSBPL2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for OSBPL2 Gene

Orthologs for OSBPL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OSBPL2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia OSBPL2 35
  • 85.82 (n)
  • 89.43 (a)
OSBPL2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Osbpl2 35
  • 85.94 (n)
  • 90.19 (a)
Osbpl2 16
Osbpl2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia OSBPL2 35
  • 99.44 (n)
  • 99.79 (a)
OSBPL2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Osbpl2 35
  • 85.04 (n)
  • 91.02 (a)
cow
(Bos Taurus)
Mammalia OSBPL2 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OSBPL2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL2 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL2 35
  • 74.17 (n)
  • 80.83 (a)
OSBPL2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSBPL2 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl2 35
  • 72.07 (n)
  • 74.95 (a)
African clawed frog
(Xenopus laevis)
Amphibia osbpl2-prov 35
zebrafish
(Danio rerio)
Actinopterygii osbpl2b 35
  • 70.2 (n)
  • 72.46 (a)
wufi36a04 35
osbpl2a 36
  • 69 (a)
OneToMany
osbpl2b 36
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3860 37
  • 48 (a)
CG3860 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F14H8.1 37
  • 32 (a)
obr-2 35
  • 48.31 (n)
  • 39.74 (a)
obr-2 36
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OSH2 36
  • 12 (a)
ManyToMany
SWH1 36
  • 13 (a)
ManyToMany
Species with no ortholog for OSBPL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for OSBPL2 Gene

ENSEMBL:
Gene Tree for OSBPL2 (if available)
TreeFam:
Gene Tree for OSBPL2 (if available)

Paralogs for OSBPL2 Gene

Paralogs for OSBPL2 Gene

(5) SIMAP similar genes for OSBPL2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with OSBPL2: view

Variants for OSBPL2 Gene

Sequence variations from dbSNP and Humsavar for OSBPL2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs2236524 -- 62,273,892(-) TAAAA(C/T)TCTGG intron-variant
rs2236525 -- 62,273,779(-) TTAGT(A/G)AAACA intron-variant
rs2236526 -- 62,273,292(-) CCACG(A/G)GGGGG intron-variant
rs944883 -- 62,246,494(-) ACACC(C/T)AGCTG intron-variant
rs944884 -- 62,245,742(-) ATCTG(C/G)AGCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OSBPL2 Gene

Variant ID Type Subtype PubMed ID
dgv4597n71 CNV Loss 21882294
dgv4599n71 CNV Loss 21882294
nsv913040 CNV Loss 21882294
dgv4600n71 CNV Loss 21882294
dgv4601n71 CNV Loss 21882294
nsv518296 CNV Loss 19592680
nsv913047 CNV Loss 21882294
esv2422398 CNV Duplication 17116639
nsv470556 CNV Loss 18288195
nsv834024 CNV Gain 17160897
esv2722782 CNV Deletion 23290073
esv2722784 CNV Deletion 23290073
esv1770279 CNV Deletion 17803354
dgv712e201 CNV Deletion 23290073
esv2722786 CNV Deletion 23290073
esv2722788 CNV Deletion 23290073
nsv913048 CNV Loss 21882294
dgv4602n71 CNV Loss 21882294
esv2722789 CNV Deletion 23290073
esv2722790 CNV Deletion 23290073
esv1677600 CNV Deletion 17803354
esv2676247 CNV Deletion 23128226
esv2722791 CNV Deletion 23290073
nsv913052 CNV Gain 21882294
nsv913053 CNV Gain+Loss 21882294
dgv4603n71 CNV Loss 21882294
nsv913056 CNV Loss 21882294
esv2671535 CNV Deletion 23128226

Variation tolerance for OSBPL2 Gene

Residual Variation Intolerance Score: 23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.89; 18.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OSBPL2 Gene

HapMap Linkage Disequilibrium report
OSBPL2
Human Gene Mutation Database (HGMD)
OSBPL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSBPL2 Gene

Disorders for OSBPL2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for OSBPL2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 67
  • deafness, autosomal dominant, 67
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
simpson-golabi-behmel syndrome
  • bulldog syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

OSBL2_HUMAN
  • Deafness, autosomal dominant, 67 (DFNA67) [MIM:616340]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:25077649, ECO:0000269 PubMed:25759012}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OSBPL2

Genetic Association Database (GAD)
OSBPL2
Human Genome Epidemiology (HuGE) Navigator
OSBPL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OSBPL2
genes like me logo Genes that share disorders with OSBPL2: view

No data available for Genatlas for OSBPL2 Gene

Publications for OSBPL2 Gene

  1. Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing. (PMID: 25077649) Xing G. … Cao X. (Genet. Med. 2015) 2 3 4 67
  2. OSBP-related protein 2 is a sterol receptor on lipid droplets that regulates the metabolism of neutral lipids. (PMID: 19224871) Hynynen R. … Olkkonen V.M. (J. Lipid Res. 2009) 3 23
  3. OSBPL10, a novel candidate gene for high triglyceride trait in dyslipidemic Finnish subjects, regulates cellular lipid metabolism. (PMID: 19554302) PerttilAo J. … Olkkonen V.M. (J. Mol. Med. 2009) 3 23
  4. ORP2, a homolog of oxysterol binding protein, regulates cellular cholesterol metabolism. (PMID: 11861666) Laitinen S. … Olkkonen V.M. (J. Lipid Res. 2002) 2 3
  5. Novel members of the human oxysterol-binding protein family bind phospholipids and regulate vesicle transport. (PMID: 11279184) Xu Y. … McMaster C.R. (J. Biol. Chem. 2001) 3 23

Products for OSBPL2 Gene

Sources for OSBPL2 Gene

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