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Tbio
XRCC4
DNA repair protein XRCC4

Protein Summary
Description
Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). 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. The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000282268
  • ENSP00000282268
  • ENSG00000152422
  • ENST00000338635
  • ENSP00000342011
  • ENST00000396027
  • ENSP00000379344
  • ENST00000511817
  • ENSP00000421491

Symbol
  • SSMED
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.89
histone modification site profile
0.89
transcription factor perturbation
0.84
transcription factor binding site profile
0.71
cellular component
0.7


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 304.03   (req: < 5)
Gene RIFs: 127   (req: <= 3)
Antibodies: 414   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 304.03   (req: >= 5)
Gene RIFs: 127   (req: > 3)
Antibodies: 414   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
2
2
2
74
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
2
74
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
X-ray repair cross complementing 4
VGNC:4227
471491
Mouse
MGI:1333799
108138
Rat
RGD:1359573
309995
Dog
X-ray repair cross complementing 4
VGNC:48468
488923
Horse
X-ray repair cross complementing 4 [Source:HGNC Symbol;Acc:HGNC:12831]
Species
Name
OMA
EggNOG
Inparanoid
Chimp
X-ray repair cross complementing 4
Mouse
Rat
Dog
X-ray repair cross complementing 4
Horse
X-ray repair cross complementing 4 [Source:HGNC Symbol;Acc:HGNC:12831]
Protein Data Bank (15)
1 – 5 of 15
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (19)
2-LTR circle formation (R-HSA-164843)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 15
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
2-LTR circle formation
Reactome
DNA Double-Strand Break Repair
Reactome
DNA Repair
Reactome
Disease
Reactome
Early Phase of HIV Life Cycle
Name
Explore in Pharos
Explore in Source
2-LTR circle formation
DNA Double-Strand Break Repair
DNA Repair
Disease
Early Phase of HIV Life Cycle
Gene Ontology Terms (16)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
IntAct
Inferred from Physical Interaction (IPI)
UniProtKB
Protein-Protein Interactions (150)
1 – 10 of 150
LIG4
Tbio
Family: Enzyme
Novelty: 0.00412993
p_int: 1
Score: 0.999
Data Source: BioPlex,Reactome,STRINGDB
APTX
Tbio
Novelty: 0.00812241
p_int: 0.999999999
p_ni: 1e-9
Score: 0.987
Data Source: BioPlex,STRINGDB
IFFO2
Tdark
Novelty: 2.08798116
p_int: 0.999999793
p_ni: 1.98e-7
p_wrong: 9e-9
Score: 0.519
Data Source: BioPlex,STRINGDB
IFFO1
Tdark
Novelty: 0.38051741
p_int: 0.999999076
p_ni: 9.23e-7
p_wrong: 1e-9
Score: 0.295
Data Source: BioPlex,STRINGDB
FAM9B
Tdark
Novelty: 0.39508009
p_int: 0.999996758
p_ni: 0.000003237
p_wrong: 4e-9
Data Source: BioPlex
PNKP
Tbio
Family: Enzyme
Novelty: 0.01038571
p_int: 0.999938688
p_ni: 0.000061312
Score: 0.987
Data Source: BioPlex,STRINGDB
SINHCAF
Tdark
Novelty: 0.18692832
p_int: 0.999868186
p_ni: 0.000131814
Data Source: BioPlex
LONRF2
Tdark
Family: Enzyme
Novelty: 1.01811251
p_int: 0.999662199
p_ni: 0.0003378
Score: 0.519
Data Source: BioPlex,STRINGDB
MTRF1
Tbio
Family: Enzyme
Novelty: 0.11037387
p_int: 0.999427273
p_ni: 0.000572196
p_wrong: 5.31e-7
Data Source: BioPlex
APPBP2
Tbio
Novelty: 0.14742368
p_int: 0.99920304
p_ni: 0.00079696
Score: 0.205
Data Source: BioPlex,STRINGDB
Publication Statistics
PubMed Score  304.03

PubMed score by year
PubTator Score  227.47

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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