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Aliases for OSBPL2 Gene

Aliases for OSBPL2 Gene

  • Oxysterol Binding Protein Like 2 2 3 5
  • OSBP-Related Protein 2 3 4
  • ORP-2 3 4
  • ORP2 3 4
  • Oxysterol-Binding Protein-Related Protein 2 3
  • Oxysterol-Binding Protein-Like 2 2
  • 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. 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 OSBPL1A.

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 CIViC summary , 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 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
GH20G062236 1.6 FANTOM5 ENCODE dbSUPER 12.6 +6.4 6400 4.0 HDGF PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B OSBPL2 MTG2 LAMA5-AS1 CABLES2 GATA5 GC20M062290
GH20G062352 2 FANTOM5 Ensembl ENCODE dbSUPER 8.6 +130.2 130194 19.1 HDGF FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 LAMA5 LAMA5-AS1 ARFGAP1 MTG2 CABLES2 OSBPL2 BHLHE23 MRGBP ADRM1 RPS21
GH20G062234 1.1 Ensembl ENCODE 12.5 +3.2 3202 2.1 BCOR ZSCAN5A GTF2F1 CBX3 PTBP1 KLF17 ZMYM3 ZNF2 ZBTB7B ZFHX2 OSBPL2 LAMA5-AS1 GC20M062290
GH20G062300 1.8 FANTOM5 ENCODE dbSUPER 6 +71.9 71869 5.7 MLX CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ENSG00000226332 GID8 LAMA5 LAMA5-AS1 CABLES2 ADRM1 OSBPL2 GATA5
GH20G062240 0.8 Ensembl ENCODE 12.5 +10.2 10214 2.6 ZNF263 SIN3A ZBTB33 KDM1A NFE2 NR2F2 HRH3 OSBPL2 LAMA5-AS1 GC20M062290
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OSBPL2 on UCSC Golden Path with GeneCards custom track

Promoters for OSBPL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000139689 215 1401 HDGF PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B

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

Post-translational modifications for OSBPL2 Gene

  • Ubiquitination at Lys209
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OSBPL2 Gene

Domains & Families for OSBPL2 Gene

Protein Domains for OSBPL2 Gene

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).

Gene Ontology (GO) - Molecular Function for OSBPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
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 OSBPL2: view
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

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for OSBPL2 Gene

Localization for OSBPL2 Gene

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 OSBPL2 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for OSBPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with OSBPL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for OSBPL2 Gene

Pathways & Interactions for OSBPL2 Gene

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

Gene Ontology (GO) - Biological Process for OSBPL2 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:0015918 sterol transport IEA --
genes like me logo Genes that share ontologies with OSBPL2: view

No data available for 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for OSBPL2 Gene



Protein tissue co-expression partners for OSBPL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OSBPL2 Gene:

OSBPL2

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.

Evidence on tissue expression from TISSUES for OSBPL2 Gene

  • Nervous system(4.8)
  • Intestine(4.3)
  • Liver(4.2)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OSBPL2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • head
  • inner ear
  • middle ear
  • outer ear
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with OSBPL2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia OSBPL2 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia OSBPL2 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSBPL2 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Osbpl2 34 16 35
  • 85.94 (n)
dog
(Canis familiaris)
Mammalia OSBPL2 34 35
  • 85.82 (n)
rat
(Rattus norvegicus)
Mammalia Osbpl2 34
  • 85.04 (n)
oppossum
(Monodelphis domestica)
Mammalia OSBPL2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSBPL2 34 35
  • 74.17 (n)
lizard
(Anolis carolinensis)
Reptilia OSBPL2 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osbpl2 34
  • 72.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia osbpl2-prov 34
zebrafish
(Danio rerio)
Actinopterygii osbpl2b 34 35
  • 70.2 (n)
osbpl2a 35
  • 69 (a)
OneToMany
wufi36a04 34
fruit fly
(Drosophila melanogaster)
Insecta CG3860 36 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea obr-2 34 35
  • 48.31 (n)
F14H8.1 36
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SWH1 35
  • 13 (a)
ManyToMany
OSH2 35
  • 12 (a)
ManyToMany
Species where no ortholog for OSBPL2 was found in the sources mined by GeneCards:
  • 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
rs786205880 Pathogenic 62,260,099(+) CCCTC(-/TC)AAGAG intron-variant, nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs786205881 Pathogenic 62,260,084(+) AAAAC(-/TG)GGGAG intron-variant, nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs1000048404 -- 62,242,533(+) TTGAT(A/G)TATTT intron-variant, utr-variant-5-prime
rs1000064681 -- 62,266,493(+) GGCTC(A/C/G)TTCTG intron-variant
rs1000079185 -- 62,242,223(+) GTCCC(A/G)GCCCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv668e201 CNV deletion 23290073
esv1677600 CNV deletion 17803354
esv1770279 CNV deletion 17803354
esv2422398 CNV duplication 17116639
esv2671535 CNV deletion 23128226
esv2676247 CNV deletion 23128226
esv2722782 CNV deletion 23290073
esv2722784 CNV deletion 23290073
esv2722786 CNV deletion 23290073
esv2722788 CNV deletion 23290073
esv2722789 CNV deletion 23290073
esv2722790 CNV deletion 23290073
esv2722791 CNV deletion 23290073
esv3646288 CNV loss 21293372
esv3646289 CNV loss 21293372
nsv1072130 CNV deletion 25765185
nsv1142491 CNV deletion 24896259
nsv1160689 CNV deletion 26073780
nsv470556 CNV loss 18288195
nsv518296 CNV loss 19592680
nsv834024 CNV gain 17160897

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

Human Gene Mutation Database (HGMD)
OSBPL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSBPL2

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

Disorders for OSBPL2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal dominant 67
  • autosomal dominant nonsyndromic deafness 67
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
deafness, autosomal dominant 1
  • autosomal dominant nonsyndromic deafness 1
simpson-golabi-behmel syndrome
  • bulldog syndrome
simpson-golabi-behmel syndrome, type 1
  • simpson-golabi-behmel 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 64
  2. 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 22 46 64
  3. 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 4 22 64
  4. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). (PMID: 25759012) Thoenes M. … Bolz H.J. (Orphanet J. Rare Dis. 2015) 3 4 64
  5. 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

Products for OSBPL2 Gene

Sources for OSBPL2 Gene

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