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Lca5 Gene Detail
Summary
  • Symbol
    Lca5
  • Name
    Leber congenital amaurosis 5 (human)
  • Synonyms
    4930431B11Rik, 5730406O13Rik, ORF64
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923032
    NCBI Gene: 75782
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:83272346-83323180 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 45.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1489 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923032
 protein coding gene Chr9:83272346-83325047 (-)
129S1/SvImJ ENSMUSG00200019202
 protein coding gene Chr9:80355588-80406471 (-)
A/J ENSMUSG00195009562
 protein coding gene Chr9:80170796-80221685 (-)
AKR/J ENSMUSG00220015055
 protein coding gene Chr9:80285037-80334614 (-)
BALB/cJ ENSMUSG00180015671
 protein coding gene Chr9:80278367-80329254 (-)
C3H/HeJ ENSMUSG00175010819
 protein coding gene Chr9:80338346-80389224 (-)
C57BL/6NJ ENSMUSG00215011011
 protein coding gene Chr9:80277339-80328179 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032486
 protein coding gene Chr9:80075477-80127268 (-)
CAST/EiJ ENSTCUG00005009109
 protein coding gene Chr9:79883966-79934842 (-)
CBA/J ENSMUSG00210013025
 protein coding gene Chr9:80391737-80441290 (-)
DBA/2J ENSMUSG00185006660
 protein coding gene Chr9:80392527-80443406 (-)
FVB/NJ ENSMUSG00205018166
 protein coding gene Chr9:80571385-80622271 (-)
JF1/MsJ ENSUMUG00000018389
 protein coding gene Chr9:80292798-80342384 (-)
LP/J ENSMUSG00230021062
 protein coding gene Chr9:80493899-80544778 (-)
NOD/ShiLtJ ENSMUSG00190024636
 protein coding gene Chr9:80467540-80518408 (-)
NZO/HlLtJ ENSMUSG00225025402
 protein coding gene Chr9:80693974-80744847 (-)
PWK/PhJ ENSLUMG00010015372
 protein coding gene Chr9:80217034-80266537 (-)
SPRET/EiJ ENSMSPG00010002387
 protein coding gene Chr9:81557327-81620618 (-)
WSB/EiJ ENSIUOG00005024614
 protein coding gene Chr9:79860670-79910274 (-)



Homology
more
  • Human Ortholog
    LCA5, lebercilin LCA5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LCA5, lebercilin LCA5
  • Synonyms
    C6orf152
  • Links
    NCBI Gene ID: 167691
    UniProt: Q86VQ0

  • Chr Location
    6q14.1; chr6:79484991-79545138 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Lca5 mouse models; 1 with human LCA5 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    3 images
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    660
  • Tissues
    63
  • cDNA Data
    34
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032258 Ensembl Gene Model | MGI Sequence Detail 50835 C57BL/6J ±  kb
    transcript ENSMUST00000034791 Ensembl | MGI Sequence Detail 4160 Not Applicable  
    polypeptide ENSMUSP00000034791 Ensembl | MGI Sequence Detail 704 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 35
      cDNA 34
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1917763, MGI:2143270, MGI:2652694
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 7
      Phenotypes 11
    • 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:295999 Uyhazi KE, et al., Treatment Potential for LCA5-Associated Leber Congenital Amaurosis. Invest Ophthalmol Vis Sci. 2020 May 11;61(5):30
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory