ENSG00000130703
Homo sapiens | |
Features
| Gene ID: | ENSG00000130703 | | | | | Biological name : | OSBPL2 | | | | | Synonyms : | OSBPL2 / oxysterol binding protein like 2 / Q9H1P3 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 20 | | Strand: | 1 | | Band: | q13.33 | | Gene start: | 62231922 | | Gene end: | 62296213 | | | | | Corresponding Affymetrix probe sets: | 209221_s_at (Human Genome U133 Plus 2.0 Array) 209222_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000479702
Ensembl peptide - ENSP00000316649
Ensembl peptide - ENSP00000350755
Ensembl peptide - ENSP00000397602
Ensembl peptide - ENSP00000415751
Ensembl peptide - ENSP00000478158
Ensembl peptide - ENSP00000493570
Ensembl peptide - ENSP00000493721
Ensembl peptide - ENSP00000494264
Ensembl peptide - ENSP00000494549
Ensembl peptide - ENSP00000494692
Ensembl peptide - ENSP00000494756
Ensembl peptide - ENSP00000494921
Ensembl peptide - ENSP00000495166
Ensembl peptide - ENSP00000495359
Ensembl peptide - ENSP00000495379
Ensembl peptide - ENSP00000495393
Ensembl peptide - ENSP00000495611
Ensembl peptide - ENSP00000495661
Ensembl peptide - ENSP00000495676
Ensembl peptide - ENSP00000495812
Ensembl peptide - ENSP00000495955
NCBI entrez gene - 9885
See in Manteia.
OMIM - 606731
RefSeq - XM_017028165
RefSeq - XM_017028168
RefSeq - XM_017028169
RefSeq - XM_017028170
RefSeq - NM_001278649
RefSeq - NM_014835
RefSeq - NM_144498
RefSeq - XM_017028163
RefSeq - XM_017028164
RefSeq - XM_017028166
RefSeq - XM_017028167
RefSeq Peptide - NP_055650
RefSeq Peptide - NP_653081
RefSeq Peptide - NP_001265578
swissprot - A0A087WVV0
swissprot - E7ET92
swissprot - H0Y7X4
swissprot - Q9H1P3
swissprot - A0A087WTV1
Ensembl - ENSG00000130703
| | | | | Related genetic diseases (OMIM): | 616340 - Deafness, autosomal dominant 67, 616340 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000648 | Oxysterol-binding protein | | IPR018494 | Oxysterol-binding protein, conserved site | | IPR037239 | Oxysterol-binding protein superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | HP:0000360 | Tinnitus | "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] |
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| | HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| | HP:0003812 | Phenotypic variability | |
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Interacting proteins (from Reactome)
No match
0 s.
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