Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	XRCC4
Approved Name	X-ray repair complementing defective repair in Chinese hamster cells 4
Name Alias	X-ray repair, complementing defective, repair in Chinese hamster, "DNA repair protein XRCC4"
Location	5q14.2
Position	chr5:83077498-83353787, 1
External Links	HGNC: 12831 Entrez Gene: 7518 Ensembl: ENSG00000152422 UCSC: uc003kib.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kazemi-Noughabi, M., 2016	SNP: rs28360071	The association between the XRCC4 Ins/Del polymorphism and the risk of BPI was not significant either in Ins/Del (odds ratio=1.20, 95% confidence interval=0.79-1.83, P=0.394) or in Del/Del (odds ratio=1.20, 95% confidence interval=0.69-2.07,P=0.515) genotypes compared with the Ins/Ins genotype.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 32)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007417	central nervous system development	biological process	IEA	21
GO:0003677	DNA binding	molecular function	IDA[9259561]	83
GO:0033077	T cell differentiation in thymus	biological process	IEA	3
GO:0005634	nucleus	cellular component	IDA; NAS[16439205]	283

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0075713	establishment of integrated proviral latency	biological process	TAS	1
GO:0005813	centrosome	cellular component	IDA	34
GO:0005829	cytosol	cellular component	IDA[9259561]	223
GO:0005515	protein binding	molecular function	IPI[11702069]	563
GO:0045190	isotype switching	biological process	IEA	1
GO:0070419	nonhomologous end joining complex	cellular component	IDA[20383123]	1
GO:0032807	DNA ligase IV complex	cellular component	IDA[9242410]	1
GO:0000793	condensed chromosome	cellular component	IDA[12589063]	1
GO:0033152	immunoglobulin V(D)J recombination	biological process	IEA	1
GO:0006303	double-strand break repair via nonhomologous end joining	biological process	IDA[12517771]; IMP[9809069]; NAS[16439205]; TAS	1
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0016874	ligase activity	molecular function	IDA[9242410]	16
GO:0008022	protein C-terminus binding	molecular function	IPI[9259651]	21
GO:0030054	cell junction	cellular component	IDA	88
GO:0071285	cellular response to lithium ion	biological process	IEA	2
GO:0048146	positive regulation of fibroblast proliferation	biological process	IEA	7
GO:0050769	positive regulation of neurogenesis	biological process	IEA	2
GO:0043524	negative regulation of neuron apoptotic process	biological process	IEA	26
GO:0051103	DNA ligation involved in DNA repair	biological process	IDA[12517771]	1
GO:0016032	viral process	biological process	TAS	26
GO:0006302	double-strand break repair	biological process	IDA[9242410]; TAS	6
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0006281	DNA repair	biological process	TAS	16
GO:0002328	pro-B cell differentiation	biological process	IEA	1
GO:0010332	response to gamma radiation	biological process	IEA	5
GO:0010165	response to X-ray	biological process	IDA[9242410]	3
GO:0051351	positive regulation of ligase activity	biological process	IDA[9242410]	1
GO:0005958	DNA-dependent protein kinase-DNA ligase 4 complex	cellular component	IDA[15194694]	1

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa03450	Non-homologous end-joining	1

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 15)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
XRCC4	CHD3	NO	yeast 2-hybrid	16169070
XRCC4	AHNAK	NO	in vitro;in vivo	15177040
XRCC4	APTX	NO	in vitro;in vivo;yeast 2-hybrid	15380105 , 16713569 , 16439205 , 16964241
XRCC4	APLF	NO	in vitro	17396150
XRCC4	GZMB	NO	in vivo	12218164
XRCC4	VIM	NO	yeast 2-hybrid	16169070
XRCC4	CSNK2A1	YES	in vitro;in vivo	15385968
XRCC4	ACTN1	NO	yeast 2-hybrid	16189514
XRCC4	IFFO1	NO	yeast 2-hybrid	16189514
XRCC4	BIN1	NO	in vitro;in vivo;yeast 2-hybrid	16275660
XRCC4	NHEJ1	NO	in vivo;yeast 2-hybrid	17567543
XRCC4	C9orf82	NO	yeast 2-hybrid	16169070
XRCC4	PRKDC	NO	in vitro	9430729
XRCC4	LIG4	NO	in vitro;in vivo	11702069 , 10854421
XRCC4	PNKP	NO	in vitro;in vivo	15385968

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs28360071	chr5:83142293 - 83142322(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5q14	chr5:77600000-93000000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr5:83077498..83353787 View in gBrowse