LIG4 Gene
protein-coding GIFtS: 70
GCID: GC13M108859
|
|
ligase IV, DNA, ATP-dependent
| |
Aliases
for LIG4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Ligase IV, DNA, ATP-Dependent1 2 | | DNA Ligase 42 | | Polydeoxyribonucleotide Synthase [ATP] 42 3 | | DNA Repair Enzyme2 | | DNA Ligase IV2 3 | | Polynucleotide Ligase2 | | EC 6.5.1.13 8 | | Sealase1 | | DNA Joinase2 | | |
Export aliases for LIG4 gene to outside databasesPrevious GC identifers: GC13M107220 GC13M103247 GC13M107696 GC13M106558 GC13M107657 GC13M089450 |
Summaries
for LIG4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for LIG4:
The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-strandedpolydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNAdouble-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-rayrepair 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 proteinand XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcriptvariants encoding the same protein have been observed. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DNLI4_HUMAN, P49917Function: 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. TheLIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Bindingof the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PKto these DNA ends
 summary
for LIG4: Ligases 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, which also includes synthases and carboxylases. DNA
ligases play an integral role in DNA repair and replication: they catalyze the formation of phosphodiester
bonds, using ATP as a co-factor. These enzymes are divided into three classes: DNA ligase I, III and IV. DNA
ligase I links Okazaki fragments to form a continuous strand of DNA. DNA ligase III is involved in base
excision repair. Finally, DNA ligase IV is involved in the repair of DNA double-strand breaks by
non-homologous end joining (NHEJ).
Gene Wiki entry for LIG4
|
Genomic Views
for LIG4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000013.10 NC_018924.1 NT_009952.14
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the LIG4 gene promoter:
RP58 p300 ZID NF-AT1 NF-AT
Other transcription factors
Search SABiosciences Chromatin IP Primers for LIG4
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LIG4 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 13q33-q34 Ensembl cytogenetic band: 13q33.3 HGNC cytogenetic band: 13q33-q34LIG4 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 13 GeneLoc Exon Structure GeneLoc location for GC13M108859: view genomic region
(about GC identifiers)
Start:
|
108,859,790 bp from pter |
End:
|
108,870,716 bp from pter |
Size:
|
10,927 bases |
Orientation:
|
minus strand |
|
Proteins
for LIG4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DNLI4_HUMAN, P49917 (See
protein sequence)Recommended Name: DNA ligase 4 Size: 911 amino acids; 103971 Da
Cofactor: Magnesium (By similarity)
Subunit: Binds to XRCC4. The LIG4-XRCC4 complex has probably a 1:2 stoichiometry. The LIG4-XRCC4 heteromer associatesin a DNA-dependent manner with the DNA-dependent protein kinase complex DNA-PK, formed by the Ku p70/p86 dimer(G22P1/G22P2) and PRKDC. Interacts with APLF
Subcellular location: Nucleus
Sequence caution: Sequence=AAL77435.1; Type=Erroneous initiation; Sequence=CAA58467.1; Type=Erroneous initiation;
6 PDB 3D structures from  and Proteopedia  for LIG4:1IK9 (3D)
2E2W (3D)
3II6 (3D)
3VNN (3D)
4HTO (3D)
4HTP (3D)
Secondary accessions: Q8IY66 Q8TEU5Explore the universe of human proteins at neXtProt for LIG4: NX_P49917
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P49917
4/10 DME Specific Peptides for LIG4 (P49917) (see all 10)
LIG4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001091738.1 NP_002303.2 NP_996820.1
ENSEMBL proteins: ENSP00000349393 ENSP00000385955 ENSP00000402030 Reactome Protein details: P49917
Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
LIG4 for ontologies About GeneDecksing
LIG4 Antibody Products:
Assay Products for LIG4: |
Protein
Domains /
Families
for LIG4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
LIG4 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P49917ProtoNet protein and cluster: P49917 2 Blocks protein families: IPB001357 BRCT domain IPB012308 DNA ligase
UniProtKB/Swiss-Prot: DNLI4_HUMAN, P49917Similarity: Belongs to the ATP-dependent DNA ligase familySimilarity: Contains 2 BRCT domains |
Function
for LIG4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DNLI4_HUMAN, P49917Function: 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. TheLIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Bindingof the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PKto these DNA endsCatalytic activity: ATP + (deoxyribonucleotide)(n) + (deoxyribonucleotide)(m) = AMP + diphosphate +(deoxyribonucleotide)(n+m) Genatlas biochemistry entry for LIG4:DNA ligase IV,ATP-dependent,96kDa,the ligation responsible for DNA double-strand breaks repair by end joining (nonhomologous recombination) and V(D)J recombination
Enzyme Number (IUBMB): EC 6.5.1.11 2
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LIG4 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for LIG4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIG4 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIG4 |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
LIG4 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for LIG4:
Animal Models:
Mouse knock-outs for LIG4: Lig4tm1Fwa Lig4tm1Icrf
13 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Lig4):
LIG4 for phenotypes About GeneDecksing
|
Pathways & Interactions
for LIG4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Non-homologous end-joining | | | 2 | Plus-strand DNA synthesis | | | 3 | HIV Infection | | | 4 | Disease | | | 5 | Late Phase of HIV Life Cycle | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for LIG4
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LIG4
1  GeneGo (Thomson Reuters) Pathway for LIG4
5/9 
Reactome Pathways for LIG4 (see all 9)
1 
Kegg Pathway (Kegg details for LIG4):
LIG4 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LIG4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/48 Interacting proteins for LIG4 (P499171, 2, 3 ENSP000003493934) via UniProtKB, MINT, STRING, and/or I2D (see all 48)About this table
Gene Ontology (GO): 5/32 biological process terms (GO ID links to tree view) (see all 32): About this table
LIG4 for ontologies About GeneDecksing
|
Drugs & Compounds
for LIG4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
LIG4 for compounds About GeneDecksing
Compounds for LIG4 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| L189 | DNA ligase I, III and IV inhibitor | [64232-83-3] |
4 HMDB Compounds for LIG4 About this table
7 Novoseek chemical compound relationships for LIG4 gene About this table
Search CenterWatch for drugs/clinical trials and news about LIG4 / DNLI4
|
Transcripts
for LIG4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for LIG4 gene (3 alternative transcripts): NM_001098268.1 NM_002312.3 NM_206937.1 Unigene Cluster for LIG4: Ligase IV, DNA, ATP-dependent Hs.166091 [show with all ESTs]Unigene Representative Sequence: NM_0023123 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000356922(uc010agg.1) ENST00000405925(uc001vqn.3 uc001vqo.3 uc010agf.3 uc001vqp.3)
ENST00000442234
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LIG4 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LIG4 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): LIG4 (NM_206937) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for LIG4 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIG4 |
Additional cDNA sequence: AK292419.1 AK314844.1 BC037491.2 BX648833.1 X83441.1 4 DOTS entries: DT.212191 DT.212190 DT.101975916 DT.92419742 24/56 AceView cDNA sequences (see all 56): CR618195 X83441 AI469486 BC037491 Z42891 AA772198 NM_206937 NM_002312 BU167518 AA687734 AA831460 AI809944 AI207192 H79100 BE348981 BQ575639 BI546008 BM803759 CD102896 CA441201 R54358 BX474333 AA084590 AL701039
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for LIG4 About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | · | 4d |
|---|
|
| SP1: | | | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | - | | | | - | | | | | | | | | | |
| SP4: | | | - | | - | | - | | - | | - | | - | | | | | | | | | |
ECgene alternative splicing isoforms for LIG4
|
Expression
for LIG4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| LIG4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGATACTATG
About this image
See LIG4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LIG4
SOURCE GeneReport for Unigene cluster: Hs.166091
UniProtKB/Swiss-Prot: DNLI4_HUMAN, P49917Tissue specificity: Testis, thymus, prostate and heart
SABiosciences Expression via Pathway-Focused PCR Arrays including LIG4:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LIG4
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LIG4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LIG4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LIG4 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIG4 |
Orthologs
for LIG4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for LIG4 gene from 9/35 species (see all 35) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
LIG41 |
ligase IV, DNA, ATP-dependent |
75.04(n)
77.11(a) |
|
418764 NM_001030816.1 NP_001025987.1 |
lizard
(Anolis carolinensis) |
Reptilia |
LIG46 |
-- |
76(a) |
1 ↔ 1 |
1(137058376-137061096) |
African clawed frog
(Xenopus laevis) |
Amphibia |
lig4-A2 |
ligase IV, DNA, ATP-dependent |
78.21(n) |
|
AF393656.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
lig41 |
ligase IV, DNA, ATP-dependent |
65.85(n)
64.99(a) |
|
569525 NM_001103123.1 NP_001096593.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
ligase43
Lig41 |
DNA ligase (ATP)3
Ligase41 |
31(a)3
45.21(n)1
33.63(a)1 |
|
12B23
323221 NM_132679.21 NP_572907.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
lig-46 |
LIGase family member (lig-4) |
16(a) |
1 ↔ 1 |
III(7521397-7524770) |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
DNL4(YOR005C)4
DNL41 |
DNA ligase required for nonhomologous end-joining (NHEJ), more4
Dnl4p1 |
44.78(n)1
29.73(a)1 |
|
15(337343-334509)4
8541661, 4 NP_014647.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
ATLIG41 |
DNA ligase 4 |
46.05(n)
34.1(a) |
|
835822 NM_125098.3 NP_568851.2 |
rice
(Oryza sativa) |
Liliopsida |
-- |
DNA ligase I, ATP-dependent family protein, expres... |
17(a) |
1 ↔ 1 |
4(30444521-30453675) |
ENSEMBL Gene Tree for LIG4 (if available)
TreeFam Gene Tree for LIG4 (if available) |
Paralogs
for LIG4 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for LIG4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 13 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for LIG4 (108859790 - 108870716 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for LIG4
5 CNVs: 87019 87020 87018 76480 76481
Human Gene Mutation Database (HGMD): LIG4
Locus Specific Mutation Databases (LSDB): LIG4
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LIG4 |
|
Disorders
/ Diseases
for LIG4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
LIG4 for disorders About GeneDecksing
OMIM gene information: 601837
OMIM disorders: 606593 254500
UniProtKB/Swiss-Prot: DNLI4_HUMAN, P49917
Defects in LIG4 are the cause of LIG4 syndrome (LIG4S) [MIM:606593]. This disease is characterized byimmunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growthand/or developmental delay, pancytopenia, and various skin abnormalities Defects in LIG4 are a cause of severe combined immunodeficiency autosomal recessiveT-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]. SCIDrefers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment ofboth humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present ininfancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types ofSCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected byRS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)Jrecombination. A subset of cells from such patients show increased radiosensitivity
20/65  diseases for LIG4 (see all 65): About MalaCardsdna ligase iv deficiency nijmegen breakage syndrome diffuse large b-cell lymphoma severe combined immunodeficiency
xeroderma pigmentosum b-cell lymphomas acoustic neuroma omenn syndrome
seckel syndrome non-hodgkin lymphoma combined immunodeficiency ataxia telangiectasia
fanconi's anemia multiple myeloma, resistance to multiple myeloma neuroma
hodgkin's lymphoma breast cancer susceptibility acute lymphoblastic leukemia conduct disorder
3 diseases from the University of Copenhagen DISEASES database for LIG4:Nijmegen breakage syndrome Microcephaly Primary immunodeficiency disease 10/20 Novoseek disease relationships for LIG4 gene (see all 20) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lig4 syndrome |
97.4 |
38 |
15333585 (4), 16735143 (3), 17345618 (3), 19418549 (3) (see all 13) |
| nijmegen breakage syndrome |
76.5 |
6 |
16088910 (2), 15966765 (1), 12640452 (1), 18568480 (1) |
| seckel syndrome |
68.9 |
1 |
12640452 (1) |
| omenn syndrome |
66.4 |
1 |
18845326 (1) |
| ataxia telangiectasia |
65.8 |
11 |
16971555 (1), 17224058 (1), 19008195 (1), 15966765 (1) (see all 5) |
| severe combined immunodeficiency |
64.3 |
3 |
16358361 (1), 16357942 (1), 18568480 (1) |
| microcephaly |
56.7 |
8 |
16358361 (3), 20133615 (1), 16088910 (1), 19418549 (1) |
| fanconis anemia |
52.3 |
1 |
15966765 (1) |
| growth retardation |
46.4 |
8 |
20133615 (1), 19451691 (1), 16088910 (1), 17554302 (1) (see all 5) |
| developmental delay |
44.6 |
6 |
20133615 (1), 11779494 (1), 16358361 (1), 15333585 (1) (see all 5) |
Genetic Association Database (GAD): LIG4
Human Genome Epidemiology (HuGE) Navigator: LIG4 (56 documents)
Export disorders for LIG4 gene to outside databases
|
Publications
for LIG4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for LIG4 gene, integrated from 9 sources (see all 240):
(articles sorted by number of sources associating them with LIG4) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination. (PubMed id 7760816)1, 2, 3 Wei Y.-F.... Lindahl T. (1995)
- DNA ligase IV from HeLa cell nuclei. (PubMed id 8798671)1, 2, 9 Robins P. and Lindahl T. (1996)
- A new type of radiosensitive T-B-NK(+) severe combined immunodeficiency caused by a LIG4 mutation. (PubMed id 16357942)1, 2, 9 van der Burg M.... van Gent D.C. (2006)
- DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. (PubMed id 11779494)1, 2, 9 O'Driscoll M.... Concannon P. (2001)
- DNA ligase IV is essential for V(D)J recombination and DNA double- strand break repair in human precursor lymphocytes. (PubMed id 9809069)1, 2, 9 Grawunder U.... Lieber M.R. (1998)
- Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity. (PubMed id 11349135)1, 2, 9 Riballo E.... Kysela B. (2001)
- Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. (PubMed id 10395545)1, 2, 9 Riballo E.... Jeggo P.A. (1999)
- Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. (PubMed id 9259561)1, 2, 9 Critchlow S.E.... Jackson S.P. (1997)
- Association of amino acid substitution polymorphisms in DNA repair genes TP53, POLI, REV1 and LIG4 with lung cancer risk. (PubMed id 15609317)1, 4, 9 Sakiyama T....Yokota J. (2005)
- Coordinated assembly of Ku and p460 subunits of the DNA-dependent protein kinase on DNA ends is necessary for XRCC4-ligase IV recruitment. (PubMed id 12547193)1, 2, 9 Calsou P.... Salles B. (2003)
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External Searches for LIG4 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing LIG4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing LIG4 gene
(According to HUGE)
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Specialized Databases showing LIG4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for LIG4 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for LIG4 | Genetics and Cytogenetics in Oncology and Haematology | | LIG4base | http://bioinf.uta.fi/LIG4base/ | | NIEHS-SNPs | http://egp.gs.washington.edu/data/lig4/ | | Wikipedia | http://en.wikipedia.org/wiki/DNA_ligase |
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| Patent Information for LIG4 gene:
Search GeneIP for patents involving LIG4
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for LIG4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for LIG4 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LIG4 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LIG4 | | | OriGene Protein Over-expression Lysate for LIG4 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for LIG4 | | OriGene 3'-UTR Clone for LIG4 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for LIG4 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for LIG4 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat LIG4 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing LIG4 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LIG4 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LIG4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LIG4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LIG4 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LIG4 |
|  |  |  | | | | Search ThermoFisher Antibodies for LIG4 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LIG4 |
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