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Lca5l Gene Detail
Summary
  • Symbol
    Lca5l
  • Name
    Leber congenital amaurosis 5-like
  • Synonyms
    4921526F01Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:3041157
    NCBI Gene: 385668
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:95959605-95993450 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 56.84 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    110 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3041157
 protein coding gene Chr16:95959605-95993471 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023082
 protein coding gene Chr16:97524178-97563209 (-)
A/J MGP_AJ_G0023050
 protein coding gene Chr16:92896886-92932510 (-)
AKR/J MGP_AKRJ_G0023020
 protein coding gene Chr16:95767388-95803547 (-)
BALB/cJ MGP_BALBcJ_G0023052
 protein coding gene Chr16:93455285-93492079 (-)
C3H/HeJ MGP_C3HHeJ_G0022813
 protein coding gene Chr16:96291432-96324888 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023499
 protein coding gene Chr16:100620473-100662851 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021001
 protein coding gene Chr16:90752276-90785391 (-)
CAST/EiJ MGP_CASTEiJ_G0022332
 protein coding gene Chr16:97085238-97120128 (-)
CBA/J MGP_CBAJ_G0022782
 protein coding gene Chr16:104954613-104995596 (-)
DBA/2J MGP_DBA2J_G0022916
 protein coding gene Chr16:92781457-92819893 (-)
FVB/NJ MGP_FVBNJ_G0022890
 protein coding gene Chr16:91960307-91993989 (-)
LP/J MGP_LPJ_G0022986
 protein coding gene Chr16:97155508-97194445 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022911
 protein coding gene Chr16:109181510-109219785 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023517
 protein coding gene Chr16:96297053-96333597 (-)
PWK/PhJ MGP_PWKPhJ_G0022077
 protein coding gene Chr16:93082082-93117058 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021907
 protein coding gene Chr16:95838538-95877613 (-)
WSB/EiJ MGP_WSBEiJ_G0022383
 protein coding gene Chr16:96562687-96599160 (-)



Homology
more
  • Human Ortholog
    LCA5L, lebercilin LCA5 like
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LCA5L, lebercilin LCA5 like
  • Synonyms
    C21orf13
  • Links
    NCBI Gene ID: 150082
    neXtProt AC: NX_O95447
    UniProt: O95447

  • Chr Location
    21q22.2; chr21:39405728-39445805 (-)  GRCh38
Human Diseases
less
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    92 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    2
  • GO References
    1
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
    706
  • cDNA Data
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 385668 NCBI Gene Model | MGI Sequence Detail 33846 C57BL/6J ±  kb
    transcript NM_001001492 RefSeq | MGI Sequence Detail 3164 C57BL/6  
    polypeptide Q8C0X0 UniProt | EBI | MGI Sequence Detail 735 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 5
    References
    more
    • Summaries
      All 111
      Diseases 6
      Gene Ontology 1
      Phenotypes 92
    • Earliest
      J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory