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 f... See more...

Aliases for LIG4 Gene

Aliases for LIG4 Gene

  • DNA Ligase 4 2 3 4 5
  • Polydeoxyribonucleotide Synthase [ATP] 4 2 3 4
  • Ligase IV, DNA, ATP-Dependent 2 3
  • Polynucleotide Ligase 2 3
  • DNA Repair Enzyme 2 3
  • DNA Ligase IV 3 4
  • DNA Joinase 2 3
  • EC 6.5.1.1 4 50
  • Sealase 2 3
  • LIG4S 3
  • LIG4 5

External Ids for LIG4 Gene

Previous GeneCards Identifiers for LIG4 Gene

  • GC13M107220
  • GC13M103247
  • GC13M107696
  • GC13M106558
  • GC13M107657
  • GC13M108859
  • GC13M089450

Summaries for LIG4 Gene

Entrez Gene Summary for LIG4 Gene

  • 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]

GeneCards Summary for LIG4 Gene

LIG4 (DNA Ligase 4) is a Protein Coding gene. Diseases associated with LIG4 include Lig4 Syndrome and Myeloma, Multiple. Among its related pathways are HIV Life Cycle and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include ligase activity and DNA ligase activity. An important paralog of this gene is LIG3.

UniProtKB/Swiss-Prot Summary for LIG4 Gene

  • Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. 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.

Tocris Summary for LIG4 Gene

  • Ligases are enzymes which catalyze the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. They belong to the E.C. 6 class of enzymes, which also includes synthases and carboxylases.

Gene Wiki entry for LIG4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LIG4 Gene

Genomics for LIG4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LIG4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J108211 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 264.9 +2.4 2356 8.8 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF600 ZNF580 ATF2 KLF9 POLR2A ABHD13 LIG4 HSALNG0099253 lnc-ABHD13-1 FAM155A
GH13J108266 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 19.5 -48.5 -48533 1.8 GABPA SPI1 POLR2A YY1 MLLT1 ENSG00000277246 ABHD13 TNFSF13B LIG4 MYO16
GH13J108268 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 11.8 -52.2 -52233 4.8 ZNF207 CTCF CEBPB SIN3A TARDBP IRF4 EBF1 TAF1 BHLHE40 SPI1 HSALNG0099259 TNFSF13B ABHD13 LIG4 RF00001-100 RNA5SP39 MYO16
GH13J108326 Enhancer 0.6 FANTOM5 13.4 -108.1 -108100 0.1 CEBPA FOXA2 GABPB1 SPI1 SRF ELF1 GABPA FOXA3 LOC105370355 ABHD13 LIG4 TNFSF13B HSALNG0099261 MYO16
GH13J107865 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 1.3 +351.7 351668 5 CTCF SIN3A ZNF513 REST YY1 RAD21 STAT5A TAF1 ZNF547 MIER2 FAM155A 5MWI_A-043 ENSG00000286343 HSALNG0099237 HSALNG0099239 LIG4 ENSG00000274718
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LIG4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LIG4

Top Transcription factor binding sites by QIAGEN in the LIG4 gene promoter:
  • NF-AT
  • NF-AT1
  • p300
  • RP58
  • ZID

Genomic Locations for LIG4 Gene

Latest Assembly
chr13:108,207,439-108,218,368
(GRCh38/hg38)
Size:
10,930 bases
Orientation:
Minus strand

Previous Assembly
chr13:108,859,790-108,870,697
(GRCh37/hg19 by Entrez Gene)
Size:
10,908 bases
Orientation:
Minus strand

chr13:108,859,787-108,870,716
(GRCh37/hg19 by Ensembl)
Size:
10,930 bases
Orientation:
Minus strand

Genomic View for LIG4 Gene

Genes around LIG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LIG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LIG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIG4 Gene

Proteins for LIG4 Gene

  • Protein details for LIG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49917-DNLI4_HUMAN
    Recommended name:
    DNA ligase 4
    Protein Accession:
    P49917
    Secondary Accessions:
    • Q8IY66
    • Q8TEU5

    Protein attributes for LIG4 Gene

    Size:
    911 amino acids
    Molecular mass:
    103971 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with XRCC4. The LIG4-XRCC4 complex has probably a 1:2 stoichiometry. The LIG4-XRCC4 complex associates in a DNA-dependent manner with the DNA-PK complex composed of PRKDC, XRCC6/Ku70 and XRCC5/Ku86 to form the core non-homologous end joining (NHEJ) complex. Additional components of the NHEJ complex include NHEJ1/XLF and PAXX. Interacts with APLF.
    SequenceCaution:
    • Sequence=AAL77435.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA58467.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LIG4 Gene

neXtProt entry for LIG4 Gene

Selected DME Specific Peptides for LIG4 Gene

P49917:
  • FEDVEFCVM
  • DGERMQMH
  • TQTFMQKG
  • FYPAMRLI
  • VQNPGPDTYCVI
  • CILDGEMMAYNP
  • FLDSWRKFH
  • ILCGTEKPE
  • YKPDKRGEGWLKIKPEYV
  • KFDIKRMVEDS

Post-translational modifications for LIG4 Gene

  • Ubiquitination at Lys184
  • Modification sites at PhosphoSitePlus

Domains & Families for LIG4 Gene

Gene Families for LIG4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for LIG4 Gene

GenScript: Design optimal peptide antigens:
  • Polydeoxyribonucleotide synthase [ATP] 4 (DNLI4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49917

UniProtKB/Swiss-Prot:

DNLI4_HUMAN :
  • Belongs to the ATP-dependent DNA ligase family.
Family:
  • Belongs to the ATP-dependent DNA ligase family.
genes like me logo Genes that share domains with LIG4: view

Function for LIG4 Gene

Molecular function for LIG4 Gene

UniProtKB/Swiss-Prot Function:
Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + (deoxyribonucleotide)(n)-3'-hydroxyl + 5'-phospho-(deoxyribonucleotide)(m) = (deoxyribonucleotide)(n+m) + AMP + diphosphate.; EC=6.5.1.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10135};.
GENATLAS Biochemistry:
DNA ligase IV,ATP-dependent,96kDa,the ligation responsible for DNA double-strand breaks repair by end joining (non homologous recombination) and V(D)J recombination

Enzyme Numbers (IUBMB) for LIG4 Gene

Phenotypes From GWAS Catalog for LIG4 Gene

Gene Ontology (GO) - Molecular Function for LIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003677 DNA binding IEA,IDA 8798671
GO:0003909 DNA ligase activity IEA,TAS --
GO:0003910 DNA ligase (ATP) activity IEA,IDA 8798671
GO:0005515 protein binding IPI 9242410
genes like me logo Genes that share ontologies with LIG4: view
genes like me logo Genes that share phenotypes with LIG4: view

Human Phenotype Ontology for LIG4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LIG4 Gene

MGI Knock Outs for LIG4:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LIG4

Clone products for research

  • Addgene plasmids for LIG4

No data available for Transcription Factor Targets and HOMER Transcription for LIG4 Gene

Localization for LIG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIG4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LIG4 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytosol 3
cytoskeleton 2
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytoplasmic bodies (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IC 23275564
GO:0000793 condensed chromosome IDA 12589063
GO:0005634 nucleus IEA,IDA 8798671
GO:0005654 nucleoplasm IDA,TAS --
GO:0005958 DNA-dependent protein kinase-DNA ligase 4 complex IBA,ISS --
genes like me logo Genes that share ontologies with LIG4: view

Pathways & Interactions for LIG4 Gene

genes like me logo Genes that share pathways with LIG4: view

Pathways by source for LIG4 Gene

1 KEGG pathway for LIG4 Gene
1 GeneGo (Thomson Reuters) pathway for LIG4 Gene
  • DNA damage_NHEJ mechanisms of DSBs repair
2 Qiagen pathways for LIG4 Gene
  • DNA Repair Mechanisms
  • Nucleotide Excision Repair Pathway
1 Cell Signaling Technology pathway for LIG4 Gene

SIGNOR curated interactions for LIG4 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for LIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000012 single strand break repair IDA 8798671
GO:0001701 in utero embryonic development ISS --
GO:0002328 pro-B cell differentiation ISS --
GO:0006260 DNA replication IEA --
GO:0006266 DNA ligation IDA 12517771
genes like me logo Genes that share ontologies with LIG4: view

Drugs & Compounds for LIG4 Gene

(7) Drugs for LIG4 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0
L189 Pharma inhibitor of human DNA ligases I, III and IV, DNA ligase I, III and IV inhibitor 0
SCR7 Pharma DNA ligase IV inhibitor 0

(6) Additional Compounds for LIG4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8

(1) Tocris Compounds for LIG4 Gene

Compound Action Cas Number
L189 DNA ligase I, III and IV inhibitor 64232-83-3

(2) ApexBio Compounds for LIG4 Gene

Compound Action Cas Number
L189 inhibitor of human DNA ligases I, III and IV 64232-83-3
SCR7 DNA ligase IV inhibitor 1533426-72-0
genes like me logo Genes that share compounds with LIG4: view

Drug products for research

Transcripts for LIG4 Gene

mRNA/cDNA for LIG4 Gene

12 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LIG4

Clone products for research

  • Addgene plasmids for LIG4

Alternative Splicing Database (ASD) splice patterns (SP) for LIG4 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d
SP1: -
SP2:
SP3: - -
SP4: - - - - - -

Relevant External Links for LIG4 Gene

GeneLoc Exon Structure for
LIG4

Expression for LIG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LIG4 Gene

Protein differential expression in normal tissues from HIPED for LIG4 Gene

This gene is overexpressed in Pancreas (24.0), Bone (18.0), and Blymphocyte (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LIG4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LIG4

SOURCE GeneReport for Unigene cluster for LIG4 Gene:

Hs.166091

mRNA Expression by UniProt/SwissProt for LIG4 Gene:

P49917-DNLI4_HUMAN
Tissue specificity: Testis, thymus, prostate and heart.

Evidence on tissue expression from TISSUES for LIG4 Gene

  • Nervous system(4.6)
  • Blood(2.3)
  • Kidney(2.2)
  • Intestine(2.1)
  • Liver(2.1)
  • Spleen(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LIG4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LIG4: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for LIG4 Gene

Orthologs for LIG4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LIG4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LIG4 29 30
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LIG4 29 30
  • 89.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LIG4 29 30
  • 85.14 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LIG4 30
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Lig4 29 16 30
  • 82.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lig4 29
  • 82.55 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 26 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves LIG4 29 30
  • 75.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LIG4 30
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lig4 29
  • 71.5 (n)
Str.4239 29
African clawed frog
(Xenopus laevis)
Amphibia lig4-A 29
Zebrafish
(Danio rerio)
Actinopterygii lig4 29 30
  • 65.85 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Lig4 29 30
  • 45.17 (n)
OneToOne
ligase4 31
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000623 29
  • 39.81 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNL4 29 30
  • 44.73 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01089g 29
  • 44.51 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR008W 29
  • 43.32 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ATLIG4 29
  • 46.01 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lig4 29
  • 47.46 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06264 29
  • 44.02 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 44 (a)
OneToOne
Species where no ortholog for LIG4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LIG4 Gene

ENSEMBL:
Gene Tree for LIG4 (if available)
TreeFam:
Gene Tree for LIG4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LIG4: view image
Alliance of Genome Resources:
Additional Orthologs for LIG4

Paralogs for LIG4 Gene

Paralogs for LIG4 Gene

genes like me logo Genes that share paralogs with LIG4: view

Variants for LIG4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LIG4 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
1001515 Uncertain Significance: Lig4 syndrome 108,210,437(-) G/A
NM_206937.2(LIG4):c.832C>T (p.Arg278Cys)
MISSENSE
1002393 Uncertain Significance: Lig4 syndrome 108,210,745(-) A/G
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr)
MISSENSE
1003823 Uncertain Significance: Lig4 syndrome 108,208,996(-) T/C
NM_206937.2(LIG4):c.2273A>G (p.Tyr758Cys)
MISSENSE
1005223 Uncertain Significance: Lig4 syndrome 108,209,566(-) T/C
NM_206937.2(LIG4):c.1703A>G (p.Asp568Gly)
MISSENSE
1008121 Uncertain Significance: Lig4 syndrome 108,210,742(-) G/A
NM_206937.2(LIG4):c.527C>T (p.Thr176Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LIG4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LIG4 Gene

Variant ID Type Subtype PubMed ID
dgv1036n106 CNV deletion 24896259
nsv1069770 CNV deletion 25765185

Variation tolerance for LIG4 Gene

Residual Variation Intolerance Score: 54.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.69; 86.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LIG4 Gene

Human Gene Mutation Database (HGMD)
LIG4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LIG4
Leiden Open Variation Database (LOVD)
LIG4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIG4 Gene

Disorders for LIG4 Gene

MalaCards: The human disease database

(28) MalaCards diseases for LIG4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
lig4 syndrome
  • dna ligase iv deficiency
myeloma, multiple
  • multiple myeloma, susceptibility to
dubowitz syndrome
  • dubowitz's syndrome
plasma cell neoplasm
  • plasma cell dyscrasia
omenn syndrome
  • reticuloendotheliosis, familial, with eosinophilia
- elite association - COSMIC cancer census association via MalaCards
Search LIG4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DNLI4_HUMAN
  • LIG4 syndrome (LIG4S) [MIM:606593]: Characterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities. {ECO:0000269 PubMed:11779494}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]: A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. {ECO:0000269 PubMed:16357942}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for LIG4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LIG4: view

No data available for Genatlas for LIG4 Gene

Publications for LIG4 Gene

  1. Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination. (PMID: 12471202) Roddam PL … Morgan GJ (Journal of medical genetics 2002) 3 4 22 72
  2. DNA repair gene polymorphisms and risk of pancreatic cancer. (PMID: 19147782) Li D … Abbruzzese JL (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 22 40
  3. Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes: a multiple genotype-phenotype study. (PMID: 19408343) Tseng RC … Wang YC (Cancer 2009) 3 22 40
  4. Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes. (PMID: 19251090) Werbrouck J … Thierens H (International journal of radiation oncology, biology, physics 2009) 3 22 40
  5. Association between total immunoglobulin E and antibody responses to naturally acquired Ascaris lumbricoides infection and polymorphisms of immune system-related LIG4, TNFSF13B and IRS2 genes. (PMID: 19604268) Acevedo N … Caraballo L (Clinical and experimental immunology 2009) 3 22 40

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