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; 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; chr6:80194708-80247147 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human LCA5

Alleles and phenotypes

All alleles(7) : Targeted(2) Gene trapped(5)
Human Diseases Modeled Using Mouse Lca5 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (10 annotations)

Process	intraflagellar transport, photoreceptor cell maintenance, ...
Component	cell projection, cilium, ...
Function	protein complex binding

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (63)    Tissues (63)    Images (2)
Theiler Stages: 13, 15, 17, 20, 22, 26, 28

Assay Type	Results
RNA in situ	47
RT-PCR	16

cDNA source data(34)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1580683, TC1593189, TC1651575
DoTS	DT.101386969, DT.40173263, DT.60107138
NIA Mouse Gene Index	U031146
Consensus CDS Project	CCDS23373.1, CCDS23374.1
International Mouse Knockout Project Status	Lca5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016496	VEGA Gene Model | MGI Sequence Detail	50835	C57BL/6J
transcript	OTTMUST00000039819	VEGA | MGI Sequence Detail	4160	Not Applicable
polypeptide	OTTMUSP00000017764	VEGA | MGI Sequence Detail	704	Not Applicable

All sequences(54) RefSeq(4) UniProt(7)

Polymorphisms

SNPs(124 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGI:1917763, MGI:2143270, MGI:2652694