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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
  • Gene Overview
    MyGene.info: LCA5
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:83391355-83441737 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 45.42 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    141 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923032
protein coding gene Chr9:83390293-83441737 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035086
protein coding gene Chr9:84059918-84114787 (-)
A/J MGP_AJ_G0035067
protein coding gene Chr9:81140282-81191664 (-)
AKR/J MGP_AKRJ_G0034995
protein coding gene Chr9:83043397-83094625 (-)
BALB/cJ MGP_BALBcJ_G0035055
protein coding gene Chr9:80794698-80847728 (-)
C3H/HeJ MGP_C3HHeJ_G0034767
protein coding gene Chr9:83566574-83624868 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035578
protein coding gene Chr9:86359476-86415677 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032486
protein coding gene Chr9:80075477-80127268 (-)
CAST/EiJ MGP_CASTEiJ_G0034085
protein coding gene Chr9:83972628-84024659 (-)
CBA/J MGP_CBAJ_G0034740
protein coding gene Chr9:89436772-89496250 (-)
DBA/2J MGP_DBA2J_G0034898
protein coding gene Chr9:80739345-80791289 (-)
FVB/NJ MGP_FVBNJ_G0034841
protein coding gene Chr9:79874243-79929446 (-)
LP/J MGP_LPJ_G0034979
protein coding gene Chr9:84257928-84312105 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034883
protein coding gene Chr9:90846617-90904526 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035599
protein coding gene Chr9:83217672-83270927 (-)
PWK/PhJ MGP_PWKPhJ_G0033789
protein coding gene Chr9:80896952-80947003 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033625
protein coding gene Chr9:83379111-83432918 (-)
WSB/EiJ MGP_WSBEiJ_G0034202
protein coding gene Chr9:83195332-83257587 (-)



Homology
more
  • Human Ortholog
    LCA5, LCA5, lebercilin
  • Vertebrate Orthologs
    11
  • Human Ortholog
    LCA5, LCA5, lebercilin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C6orf152
  • Links
    NCBI Gene ID: 167691
    neXtProt AC: NX_Q86VQ0
    UniProt: Q86VQ0

  • Chr Location
    6q14.1; chr6:79484991-79537430 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 32718
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;2 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: LCA5
  • Gene Tree
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
    7 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 75782 NCBI Gene Model | MGI Sequence Detail 50383 C57BL/6J ±  kb
    transcript NM_027448 RefSeq | MGI Sequence Detail 4235 C57BL/6  
    polypeptide Q80ST9 UniProt | EBI | 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 29
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 6
      Phenotypes 7
    • 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

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory