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Gene: LCA5 (lebercilin LCA5) Homo sapiens
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Symbol: LCA5
Name: lebercilin LCA5
Description: Predicted to be involved in intraciliary transport and photoreceptor cell maintenance. Localizes to photoreceptor connecting cilium. Implicated in Leber congenital amaurosis 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C6orf152; LCA5, lebercilin; Leber congenital amaurosis 5; leber congenital amaurosis 5 protein; Lebercilin
Orthologs:
Mus musculus (house mouse) : Lca5 (Leber congenital amaurosis 5 (human))  MGI  Alliance
Rattus norvegicus (Norway rat) : Lca5 (lebercilin LCA5)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Lca5 (lebercilin LCA5)
Pan paniscus (bonobo/pygmy chimpanzee) : LCA5 (lebercilin LCA5)
Canis lupus familiaris (dog) : LCA5 (lebercilin LCA5)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Lca5 (lebercilin LCA5)
Sus scrofa (pig) : LCA5 (lebercilin LCA5)
Chlorocebus sabaeus (African green monkey) : LCA5 (lebercilin LCA5)
Heterocephalus glaber (naked mole-rat) : Lca5 (lebercilin LCA5)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl679,484,991 - 79,537,458 (-)EnsemblGRCh38hg38GRCh38
GRCh38679,484,991 - 79,537,430 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37680,194,708 - 80,247,147 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36680,251,427 - 80,303,866 (-)NCBINCBI36hg18NCBI36
Celera680,609,792 - 80,662,233 (-)NCBI
Cytogenetic Map6q14.1NCBI
HuRef677,415,318 - 77,467,734 (-)NCBIHuRef
CHM1_1680,292,226 - 80,344,664 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on LCA5
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1318396
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.