ENSG00000197753


Homo sapiens

Features
Gene ID: ENSG00000197753
  
Biological name :LHFPL5
  
Synonyms : LHFPL5 / LHFPL tetraspan subfamily member 5 / Q8TAF8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.31
Gene start: 35805293
Gene end: 35833874
  
Corresponding Affymetrix probe sets: 1555043_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000493955
Ensembl peptide - ENSP00000353346
NCBI entrez gene - 222662     See in Manteia.
OMIM - 609427
RefSeq - NM_182548
RefSeq Peptide - NP_872354
swissprot - Q8TAF8
Ensembl - ENSG00000197753
  
Related genetic diseases (OMIM): 610265 - Deafness, autosomal recessive 67, 610265
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)
Ortholog nameID Species
 lhfpl5aENSDARG00000045023Danio rerio
 lhfpl5bENSDARG00000056458Danio rerio
 LHFPL5ENSGALG00000039170Gallus gallus
 Lhfpl5ENSMUSG00000062252Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LHFPL3 / Q86UP9 / LHFPL tetraspan subfamily member 3ENSG0000018741665
LHFPL4 / Q7Z7J7 / LHFPL tetraspan subfamily member 4ENSG0000015695960
LHFPL6 / Q9Y693 / LHFPL tetraspan subfamily member 6ENSG0000018372222
LHFPL2 / Q6ZUX7 / LHFPL tetraspan subfamily member 2ENSG0000014568521
LHFPL1 / Q86WI0 / LHFPL tetraspan subfamily member 1ENSG0000018250819


Protein motifs (from Interpro)
Interpro ID Name
 IPR019372  Lipoma HMGIC fusion partner-like protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0050910 detection of mechanical stimulus involved in sensory perception of sound IEA
 biological_processGO:0060088 auditory receptor cell stereocilium organization IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0032421 stereocilium bundle IEA
 cellular_componentGO:0032426 stereocilium tip IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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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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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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