AlphaFold predicted structure
LIG4 · P49917
Mean pLDDT
88.2/ 100
Confident
911 residues
Confidence breakdown
- Very high(≥ 90)63%
- Confident(70–90)28%
- Low(50–70)6%
- Very low(< 50)3%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
LIG4
Chr 13q33.3DNA ligase 4
- MANE:
- ENST00000442234.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies for rare disease
BIALLELIC, autosomal or pseudoautosomalInfantile enterocolitis & monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalIUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomal
+5 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
LIG4 syndrome
0.79DNA ligase IV deficiency
0.79severe combined immunodeficiency due to DCLRE1C deficiency
0.69severe combined immunodeficiency
0.60T-B+ severe combined immunodeficiency
0.53T-B- severe combined immunodeficiency
0.53hereditary disease
0.52lymphoma
0.47acute lymphoblastic leukemia
0.47plasma cell myeloma
0.47
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
DNA ligase 4
DNA ligase involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination (PubMed:12517771, PubMed:17290226, PubMed:23523427, PubMed:29980672, PubMed:33586762, PubMed:8798671, PubMed:9242410, PubMed:9809069). Catalyzes the NHEJ ligation step of the broken DNA during DSB repair by resealing the DNA breaks after the gap filling is completed (PubMed:12517771, PubMed:17290226, PubMed:9242410, PubMed:9809069). Joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction (PubMed:12517771, PubMed:17290226, PubMed:9242410, PubMed:9809069). LIG4 is mechanistically flexible: it can ligate nicks as well as compatible DNA overhangs alone, while in the presence of XRCC4, it can ligate ends with 2-nucleotides (nt) microhomology and 1-nt gaps (PubMed:17290226). Forms a subcomplex with XRCC4; the LIG4-XRCC4 subcomplex is responsible for the NHEJ ligation step and XRCC4 enhances the joining activity of LIG4 (PubMed:9242410, PubMed:9809069). Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends (PubMed:10854421). LIG4 regulates nuclear localization of XRCC4 (PubMed:24984242)
Diseases associated with LIG4
Curated MONDO disease pages that list LIG4 among their top associated genes.