LIG4 Chromosome 13
DNA ligase 4
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What This Gene Does
The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DNA ligases
Locus Type
gene with protein product
Location
13q33.3
Ensembl
ENSG00000174405
Associated Conditions (8)
DNA ligase IV deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
LIG4-related disorder
Inborn genetic diseases
Multiple myeloma
Severe combined immunodeficiency disease
prenatal LIG4 syndrome with aqueductal stenosis
Papillary thyroid carcinoma
Key Variants
RS1220876973
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, DNA ligase IV deficiency
Health Risk
RS1342090676
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency
Health Risk
RS1353165210
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, DNA ligase IV deficiency
Health Risk
RS138021217
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, LIG4-related disorder
Health Risk
RS141441003
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, DNA ligase IV deficiency
Health Risk
RS142957638
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, LIG4-related disorder, DNA ligase IV deficiency
Health Risk
RS143590752
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, Inborn genetic diseases
Health Risk
RS143618179
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, DNA ligase IV deficiency
Health Risk
RS143767581
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency, Inborn genetic diseases
Health Risk
RS147181971
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
Health Risk
RS149012859
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, Multiple myeloma, DNA ligase IV deficiency
Health Risk
RS150146196
Conflicting classifications of pathogenicity
DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency
Health Risk
All Variants (120)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1220876973 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS1342090676 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency |
| RS1353165210 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS138021217 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, LIG4-related disorder |
| RS141441003 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS142957638 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, LIG4-related disorder, DNA ligase IV deficiency |
| RS143590752 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, Inborn genetic diseases |
| RS143618179 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS143767581 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency, Inborn genetic diseases |
| RS147181971 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS149012859 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Multiple myeloma, DNA ligase IV deficiency |
| RS150146196 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency |
| RS150828164 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Multiple myeloma, DNA ligase IV deficiency |
| RS199638675 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS201176444 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201289944 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency |
| RS3093765 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Multiple myeloma, DNA ligase IV deficiency |
| RS35469724 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Inborn genetic diseases, DNA ligase IV deficiency |
| RS377032117 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Inborn genetic diseases, DNA ligase IV deficiency |
| RS529756815 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS535025599 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency |
| RS574912936 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS72660870 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, Multiple myeloma |
| RS748385144 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency, Inborn genetic diseases |
| RS750390328 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Inborn genetic diseases, DNA ligase IV deficiency |
| RS755358293 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS758694012 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Multiple myeloma, DNA ligase IV deficiency |
| RS763222026 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency |
| RS764483419 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency |
| RS765520147 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS768563098 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency |
| RS769297575 | Health Risk | Conflicting classifications of pathogenicity | Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS778524098 | Health Risk | Conflicting classifications of pathogenicity | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS104894421 | Health Risk | Likely pathogenic | DNA ligase IV deficiency, Severe combined immunodeficiency disease, DNA ligase IV deficiency |
| RS1060499662 | Health Risk | Likely pathogenic | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS1131691430 | Health Risk | Likely pathogenic | Inborn genetic diseases, prenatal LIG4 syndrome with aqueductal stenosis, Inborn genetic diseases |
| RS1555305016 | Health Risk | Likely pathogenic | — |
| RS1594462950 | Health Risk | Likely pathogenic | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2138967445 | Health Risk | Likely pathogenic | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2138974645 | Health Risk | Likely pathogenic | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS2138978193 | Health Risk | Likely pathogenic | DNA ligase IV deficiency, Inborn genetic diseases, DNA ligase IV deficiency |
| RS2501580705 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2501600808 | Health Risk | Likely pathogenic | LIG4-related disorder, LIG4-related disorder |
| RS751409106 | Health Risk | Likely pathogenic | Papillary thyroid carcinoma, Papillary thyroid carcinoma |
| RS777008519 | Health Risk | Likely pathogenic | DNA ligase IV deficiency, Severe combined immunodeficiency disease, DNA ligase IV deficiency |
| RS886037777 | Health Risk | Likely pathogenic | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS104894420 | Health Risk | Pathogenic | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS1164783105 | Health Risk | Pathogenic | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS1216940721 | Health Risk | Pathogenic | DNA ligase IV deficiency, DNA ligase IV deficiency |
| RS1286797317 | Health Risk | Pathogenic | DNA ligase IV deficiency, DNA ligase IV deficiency |