LIG4 (DNA ligase 4)

2003-02-01 Affiliation

Identity

HGNC

LIG4

LOCATION

13q33.3

LOCUSID

3981

ALIAS

LIG4S

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000174405	ENST00000356922	P49917
ENSG00000174405	ENST00000356922	A0A024RE06
ENSG00000174405	ENST00000405925	P49917
ENSG00000174405	ENST00000405925	A0A024RE06
ENSG00000174405	ENST00000442234	P49917
ENSG00000174405	ENST00000442234	A0A024RE06
ENSG00000174405	ENST00000611712	P49917
ENSG00000174405	ENST00000611712	A0A024RE06
ENSG00000174405	ENST00000614526	A0A0C4DGV9

Expression (GTEx)

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

Pathway	Source	External ID
Non-homologous end-joining	KEGG	ko03450
Non-homologous end-joining	KEGG	hsa03450
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
HIV Life Cycle	REACTOME	R-HSA-162587
Early Phase of HIV Life Cycle	REACTOME	R-HSA-162594
Integration of provirus	REACTOME	R-HSA-162592
2-LTR circle formation	REACTOME	R-HSA-164843
DNA Repair	REACTOME	R-HSA-73894
DNA Double-Strand Break Repair	REACTOME	R-HSA-5693532
Nonhomologous End-Joining (NHEJ)	REACTOME	R-HSA-5693571

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
11779494	2001	DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.	134
25201414	2014	Chromosomal translocations in human cells are generated by canonical nonhomologous end-joining.	121
12077346	2002	Association of DNA polymerase mu (pol mu) with Ku and ligase IV: role for pol mu in end-joining double-strand break repair.	96
11702069	2001	Crystal structure of an Xrcc4-DNA ligase IV complex.	86
17018785	2006	Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium.	83
17290226	2007	XRCC4:DNA ligase IV can ligate incompatible DNA ends and can ligate across gaps.	65
19116388	2009	A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility.	63
15520013	2005	DNA-dependent protein kinase and XRCC4-DNA ligase IV mobilization in the cell in response to DNA double strand breaks.	57
18440984	2008	Human DNA ligases I and III, but not ligase IV, are required for microhomology-mediated end joining of DNA double-strand breaks.	56
16485136	2006	Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses.	53

Citation

Dessen P

LIG4 (DNA ligase 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41156/lig4