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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

HCOP human homology predictions: LCA5
Gene Tree: Lca5

Human
homologs
LCA5, Leber congenital amaurosis 5
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 167691
neXtProt AC: NX_Q86VQ0

Human Synonyms: C6orf152

Human Chr (Location): 6q14.1; chr6:79484991-79537430 (-)  GRCh38.p2

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 in Mice Using Lca5 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Lca5 interacts with 242 markers (Mir1b, Mir7-1, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process intraciliary transport, photoreceptor cell maintenance, ...
Component axoneme, cell, ...
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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase lca5    NEW 
Molecular
reagents
All nucleic(35) cDNA(34) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000016496 (Evidence)
Ensembl Gene Model ENSMUSG00000032258 (Evidence)
Entrez Gene 75782 (Evidence)
UniGene 199698
DFCI TC1651575, TC1593189, TC1580683
DoTS DT.101386969, DT.60107138, DT.40173263
NIA Mouse Gene Index U031146
Consensus CDS Project CCDS23373.1, CCDS23374.1
International Mouse Phenotyping Consortium Status Lca5
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(71) RefSeq(18) UniProt(6)
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:214319 Karlstetter M, et al., Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Hum Mol Genet. 2014 Oct 1;23(19):5197-210
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
05/20/2015
MGI 5.22
The Jackson Laboratory