LIG4 (DNA ligase 4)

2003-02-01  

Identity

HGNC
LIG4
LOCATION
13q33.3
LOCUSID
3981
ALIAS
LIG4S
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3981
MIM: 601837
HGNC: 6601
Ensembl: ENSG00000174405

Variants:

dbSNP: 3981
ClinVar: 3981
TCGA: ENSG00000174405
COSMIC: LIG4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174405ENST00000356922P49917
ENSG00000174405ENST00000356922A0A024RE06
ENSG00000174405ENST00000405925P49917
ENSG00000174405ENST00000405925A0A024RE06
ENSG00000174405ENST00000442234P49917
ENSG00000174405ENST00000442234A0A024RE06
ENSG00000174405ENST00000611712P49917
ENSG00000174405ENST00000611712A0A024RE06
ENSG00000174405ENST00000614526A0A0C4DGV9

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Non-homologous end-joiningKEGGko03450
Non-homologous end-joiningKEGGhsa03450
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Early Phase of HIV Life CycleREACTOMER-HSA-162594
Integration of provirusREACTOMER-HSA-162592
2-LTR circle formationREACTOMER-HSA-164843
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381480492024The Contribution of DNA Ligase 4 Polymorphisms to Colorectal Cancer.0
383512932024Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.1
381480492024The Contribution of DNA Ligase 4 Polymorphisms to Colorectal Cancer.0
383512932024Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.1
370047472023Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.0
375001612023The Contribution of DNA Ligase 4 Genetic Variations to Taiwanese Lung Cancer.1
378718492023Deficiency of ligase IV leads to reduced NHEJ, accumulation of DNA damage, and can sensitize cells to cancer therapeutics.0
370047472023Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.0
375001612023The Contribution of DNA Ligase 4 Genetic Variations to Taiwanese Lung Cancer.1
378718492023Deficiency of ligase IV leads to reduced NHEJ, accumulation of DNA damage, and can sensitize cells to cancer therapeutics.0
357737722022[Correlation of polymorphisms of DNA double-strand break repair genes XRCC5, LIG4 and glioma].0
357737722022[Correlation of polymorphisms of DNA double-strand break repair genes XRCC5, LIG4 and glioma].0
335867622021Hypomorphic mutations in human DNA ligase IV lead to compromised DNA binding efficiency, hydrophobicity and thermal stability.0
343522032021Cryo-EM of NHEJ supercomplexes provides insights into DNA repair.43
346141782021USP39 promotes non-homologous end-joining repair by poly(ADP-ribose)-induced liquid demixing.9

Citation

Dessen P

LIG4 (DNA ligase 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41156