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Lca5
Gene Detail
Symbol

Name
ID
Lca5
Leber congenital amaurosis 5 (human)
MGI:1923032
Synonyms
4930431B11Rik, 5730406O13Rik, ORF64
Feature Type
protein coding gene
Genetic Map
Chromosome 9
45.42 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr9:83390293-83441127 bp, - strand
From VEGA annotation of GRCm38

  50835 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32718  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 western clawed frog; 1 zebrafish

Gene Tree: Lca5

Human
homologs
Human Homolog LCA5, Leber congenital amaurosis 5
NCBI Gene ID 167691
neXtProt AC  NX_Q86VQ0
Human Synonyms  C6orf152
Human Chr (Location)  6q14.1; chr6:79484991-79537430 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human LCA5
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(5) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a gene trapped allele exhibit retinal patches of depigmentation, lack rod and cone ERG responses to light stimuli, and show loss of ciliary intraflagellar transport function in photoreceptors leading to failure of outer segment formation and photoreceptor degeneration.
 
Human Diseases Modeled Using Mouse Lca5 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Lca5 interacts with 242 markers (Mir1b, Mir7-1, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process intraciliary transport, photoreceptor cell maintenance, ...
Component cell, cell projection, ...
Function protein complex binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (63)    Tissues (63)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 47
RT-PCR 16
cDNA source data(34)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(35) cDNA(34) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000016496 (Evidence)
Ensembl Gene ModelENSMUSG00000032258 (Evidence)
Entrez Gene75782 (Evidence)
UniGene199698
DFCITC1580683, TC1651575, TC1593189
DoTSDT.60107138, DT.40173263, DT.101386969
NIA Mouse Gene IndexU031146
Consensus CDS ProjectCCDS23373.1, CCDS23374.1
International Mouse Knockout Project StatusLca5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016496 VEGA Gene Model | MGI Sequence Detail 50835 C57BL/6J ±  kb
transcript OTTMUST00000039819 VEGA | MGI Sequence Detail 4160 Not Applicable 
polypeptide OTTMUSP00000017764 VEGA | MGI Sequence Detail 704 Not Applicable 

For the selected sequences
All sequences(61) RefSeq(16) UniProt(8)
Polymorphisms
SNPs within 2kb(133 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026684 Lebercilin
InterPro IPR026188 Lebercilin-like
Protein Ontology PR:000009696 lebercilin
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:174018 Boldt K, et al., Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest. 2011 Jun 1;121(6):2169-80
All references(30)
Disease annotation references (1)
Other
accession IDs
MGI:1917763, MGI:2143270, MGI:2652694

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory