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Lig4 Gene Detail
Summary
  • Symbol
    Lig4
  • Name
    ligase IV, DNA, ATP-dependent
  • Synonyms
    5830471N16Rik, DNA ligase IV, tiny
  • Feature Type
    protein coding gene
  • IDs
    MGI:1335098
    NCBI Gene: 319583
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:10020020-10027680 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 4.52 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    262 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1335098
 protein coding gene Chr8:10019049-10027686 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033346
 protein coding gene Chr8:7107934-7114629 (-)
A/J MGP_AJ_G0033326
 protein coding gene Chr8:6863646-6871312 (-)
AKR/J MGP_AKRJ_G0033257
 protein coding gene Chr8:7078901-7086567 (-)
BALB/cJ MGP_BALBcJ_G0033327
 protein coding gene Chr8:7004874-7012540 (-)
C3H/HeJ MGP_C3HHeJ_G0033040
 protein coding gene Chr8:7237642-7245782 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033839
 protein coding gene Chr8:7412302-7421315 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030809
 protein coding gene Chr8:6413511-6421013 (-)
CAST/EiJ MGP_CASTEiJ_G0032362
 protein coding gene Chr8:6912900-6920877 (-)
CBA/J MGP_CBAJ_G0033013
 protein coding gene Chr8:7717073-7727519 (-)
DBA/2J MGP_DBA2J_G0033166
 protein coding gene Chr8:6864182-6870918 (-)
FVB/NJ MGP_FVBNJ_G0033115
 protein coding gene Chr8:6812151-6819817 (-)
LP/J MGP_LPJ_G0033260
 protein coding gene Chr8:7024510-7032177 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033149
 protein coding gene Chr8:8082117-8089828 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033856
 protein coding gene Chr8:7074018-7083193 (-)
PWK/PhJ MGP_PWKPhJ_G0032075
 protein coding gene Chr8:6799874-6827519 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031917
 protein coding gene Chr8:6983682-6991228 (-)
WSB/EiJ MGP_WSBEiJ_G0032478
 protein coding gene Chr8:7119135-7127768 (-)



Homology
more
  • Human Ortholog
    LIG4, DNA ligase 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LIG4, DNA ligase 4
  • Synonyms
    LIG4S
  • Links
    NCBI Gene ID: 3981
    neXtProt AC: NX_P49917
    UniProt: P49917

  • Chr Location
    13q33.3; chr13:108207439-108218368 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Lig4 mouse models; 6 with human LIG4 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    94 phenotypes from 8 alleles in 11 genetic backgrounds
    34 phenotypes from multigenic genotypes
    63 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.
Null homozygotes die late in gestation with extensive CNS apoptosis, blocked lymphopoeiesis and failure of V(D)J joining. Carrier fibroblasts show elevated chromosome breaks. ~40% of homozygous hypomorphs survive, with retarded growth, reduced PBL and progressive loss of hematopoietic stem cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    93
  • GO References
    25
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
    805
  • Tissues
    99
  • cDNA Data
    34
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 319583 NCBI Gene Model | MGI Sequence Detail 7661 C57BL/6J ±  kb
    transcript NM_176953 RefSeq | MGI Sequence Detail 4069 C57BL/6  
    polypeptide Q8BTF7 UniProt | EBI | MGI Sequence Detail 911 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      Genomic 1
      cDNA 34
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2442329, MGI:3584400
    References
    more
    • Summaries
      All 111
      Developmental Gene Expression 5
      Diseases 3
      Gene Ontology 25
      Phenotypes 63
    • Earliest
      J:50865 Frank KM, et al., Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV. Nature. 1998 Nov 12;396(6707):173-7
    • Latest
      J:288654 Lun MP, et al., Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome. Am J Pathol. 2019 Dec;189(12):2440-2449
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory