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Lhfpl5
Gene Detail
 Symbol
Name
ID
Lhfpl5
lipoma HMGIC fusion partner-like 5
MGI:1915382
Synonyms 9330179O15Rik, LOC328789, Tmhs
Feature Type protein coding gene
Genetic Map
Chromosome 17
14.77 cM, cytoband B1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr17:28575718-28583593 bp, + strand
From VEGA annotation of GRCm38

  7876 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:18794  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: Lipoma HMGIC fusion partner precursor
Gene Tree: Lhfpl5

Human
homologs
Human Homolog LHFPL5, lipoma HMGIC fusion partner-like 5
NCBI Gene ID 222662
neXtProt AC  NX_Q8TAF8
Human Synonyms  DFNB67, dJ510O8.8, TMHS
Human Chr (Location)  6p21.31; chr6:35805294-35824075 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human LHFPL5
Alleles
and
phenotypes
All alleles(23) : Targeted(4) Gene trapped(17) Spontaneous(1) Chemically induced(1)
 
Mutations in this gene result in deafness and vestibular dysfunction with severe degeneration of the organ of Corti.
 
Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process auditory receptor cell stereocilium organization, detection of mechanical stimulus involved in sensory perception of sound, ...
Component apical plasma membrane, integral component of membrane, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (82)    Tissues (34)    Images (10)
Theiler Stages: 22, 23, 24, 25, 28
Assay TypeResults
Immunohistochemistry 27
In situ reporter (knock in) 34
Northern blot 12
RT-PCR 9
cDNA source data(7)
External Resources: GEO   ArrayExpress
Molecular
reagents
All nucleic(9) cDNA(7) Primer pair(2)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000024253 (Evidence)
Ensembl Gene ModelENSMUSG00000062252 (Evidence)
Entrez Gene328789 (Evidence)
UniGene284760
DFCITC1586883
DoTSDT.97387922
NIA Mouse Gene IndexU017751
Consensus CDS ProjectCCDS37530.1
International Mouse Knockout Project StatusLhfpl5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024253 VEGA Gene Model | MGI Sequence Detail 7876 C57BL/6J ±  kb
transcript OTTMUST00000059371 VEGA | MGI Sequence Detail 1248 Not Applicable 
polypeptide OTTMUSP00000028873 VEGA | MGI Sequence Detail 219 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(6) UniProt(3)
Polymorphisms SNPs within 2kb(59 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR019372 Lipoma HMGIC fusion partner-like protein
Protein Ontology PR:000009789 tetraspan membrane protein of hair cell stereocilia
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:193334 Xiong W, et al., TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell. 2012 Dec 7;151(6):1283-95
All references(29)
Other
accession IDs
MGI:2683900

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory