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Aliases for LIG4 Gene

Aliases for LIG4 Gene

  • DNA Ligase 4 2 3 3 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
  • Sealase 2 3
  • EC 6.5.1.1 4
  • LIG4S 3

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.

UniProtKB/Swiss-Prot 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

Additional gene information for LIG4 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIG4 Gene

Genomics for LIG4 Gene

GeneHancer (GH) Regulatory Elements for LIG4 Gene

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 2.3 EPDnew Ensembl ENCODE dbSUPER 664.9 +4.4 4374 4.7 HDAC1 ELF3 FOXA2 RB1 ARID4B SIN3A ZBTB40 ZNF48 ETS1 ZNF335 LIG4 ABHD13 GC13P108126
GH13J108216 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 658.4 -0.1 -90 3.7 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 ZNF207 ABHD13 LIG4 GC13P108246
GH13J108268 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 11.8 -51.5 -51475 2.9 BMI1 BATF IRF4 RAD21 ZNF207 ZNF143 RCOR1 IKZF2 RUNX3 CREM TNFSF13B LIG4 ABHD13 ENSG00000277246 RNA5SP39
GH13J108266 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 19.4 -48.5 -48533 1.8 POLR2A MLLT1 SPI1 GABPA ENSG00000277246 ABHD13 TNFSF13B LIG4
GH13J108326 Enhancer 0.8 FANTOM5 Ensembl 13.4 -108.1 -108132 0.2 SRF FOXA2 FOXA3 CEBPA ZFP36 ELF1 GABPA LOC105370355 ABHD13 LIG4 TNFSF13B RNA5SP39
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for LIG4 Gene

Genomic Locations for LIG4 Gene
chr13:108,207,439-108,218,368
(GRCh38/hg38)
Size:
10,930 bases
Orientation:
Minus strand
chr13:108,859,787-108,870,716
(GRCh37/hg19)
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

Post-translational modifications for LIG4 Gene

  • Ubiquitination at isoforms=184
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LIG4 Gene

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:

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:
ATP + (deoxyribonucleotide)(n)-3-hydroxyl + 5-phospho-(deoxyribonucleotide)(m) = (deoxyribonucleotide)(n+m) + AMP + diphosphate.
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 IDA 8798671
GO:0003909 DNA ligase activity TAS --
GO:0003910 DNA ligase (ATP) activity 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:

Animal Model Products

CRISPR Products

miRNA for LIG4 Gene

miRTarBase miRNAs that target LIG4

Inhibitory RNA Products

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

Clone Products

  • 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
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytoplasmic bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IC 23275564
GO:0000793 condensed chromosome IDA 12589063
GO:0005634 nucleus IDA,IEA 8798671
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA --
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
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: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 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: Novoseek and HMDB

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

(1) Tocris Compounds for LIG4 Gene

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

Transcripts for LIG4 Gene

Unigene Clusters for LIG4 Gene

Ligase IV, DNA, ATP-dependent:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • 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
ECgene alternative splicing isoforms for
LIG4

Expression for LIG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of LIG4 Gene:

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(4.5)

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

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 34 33
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LIG4 34 33
  • 89.39 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LIG4 34 33
  • 85.14 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LIG4 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lig4 16 34 33
  • 82.58 (n)
rat
(Rattus norvegicus)
Mammalia Lig4 33
  • 82.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 26 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LIG4 34 33
  • 75.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LIG4 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lig4 33
  • 71.5 (n)
Str.4239 33
African clawed frog
(Xenopus laevis)
Amphibia lig4-A 33
zebrafish
(Danio rerio)
Actinopterygii lig4 34 33
  • 65.85 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Lig4 34 33
  • 45.17 (n)
OneToOne
ligase4 35
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000623 33
  • 39.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNL4 36 34 33
  • 44.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01089g 33
  • 44.51 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR008W 33
  • 43.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATLIG4 33
  • 46.01 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes lig4 33
  • 47.46 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06264 33
  • 44.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 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

Paralogs for LIG4 Gene

No data available for Paralogs for LIG4 Gene

Variants for LIG4 Gene

Sequence variations from dbSNP and Humsavar for LIG4 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1009787521 uncertain-significance, Lig4 syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation 108,214,791(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs10131 likely-benign, Lig4 syndrome, Severe combined immunodeficiency with sensitivity to ionizing radiation 108,207,498(-) C/T 3_prime_UTR_variant
rs104894418 pathogenic, Lig4 syndrome 108,209,531(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs104894419 conflicting-interpretations-of-pathogenicity, pathogenic, Lig4 syndrome, not provided 108,208,829(-) G/A coding_sequence_variant, stop_gained
rs104894420 pathogenic, Lig4 syndrome, LIG4 syndrome (LIG4S) [MIM:606593] 108,209,863(-) C/T coding_sequence_variant, missense_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LIG4 Gene

MalaCards: The human disease database

(18) MalaCards diseases for LIG4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lig4 syndrome
  • dna ligase iv deficiency
myeloma, multiple
  • multiple myeloma, susceptibility to
dubowitz syndrome
  • dubowitz's syndrome
omenn syndrome
  • os
severe combined immunodeficiency with sensitivity to ionizing radiation
  • rs-scid
- 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 mutations 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 mutations affecting the gene represented in this entry.

Additional Disease Information for LIG4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LIG4: view

No data available for Genatlas for LIG4 Gene

Publications for LIG4 Gene

  1. 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 44 58
  2. 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 44 58
  3. 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 44 58
  4. Sequence variant discovery in DNA repair genes from radiosensitive and radiotolerant prostate brachytherapy patients. (PMID: 19638463) Pugh TJ … Moore RA (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 22 44 58
  5. Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma. (PMID: 18165945) Liu Y … Zhou L (Human mutation 2008) 3 22 44 58

Products for LIG4 Gene

Sources for LIG4 Gene

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