XRCC4 - X-ray repair cross complementing 4 Gene

Homo sapiens

Also known as SSMED; hXRCC4

Gene ID: 7518 | Gene type: protein coding

About XRCC4

Cytogenetic location: 5q14.2 Genomic coordinates (GRCh38): 5:83,077,547-83,374,473 (from NCBI)

This gene has 6 transcripts (splice variants), 125 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 2.7), lymph node (RPKM 2.1) and 25 other tissues.

Summary

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). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]

XRCC4 Products(5)

mRNA	Protein	Name
NM_001318012.3	NP_001304941.1	DNA repair protein XRCC4 isoform 2
NM_001318013.2	NP_001304942.1	DNA repair protein XRCC4 isoform 3
NM_003401.5	NP_003392.1	DNA repair protein XRCC4 isoform 1
NM_022406.5	NP_071801.1	DNA repair protein XRCC4 isoform 2
NM_022550.4	NP_072044.1	DNA repair protein XRCC4 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables DNA binding	IDA IDA: Inferred from direct assay	9259561	GOA
enables FHA domain binding	IPI IPI: Inferred from physical interaction	15385968	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16169070	GOA
NOT enables ligase activity	IDA IDA: Inferred from direct assay	9242410	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9259561	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA ligation involved in DNA repair	IDA IDA: Inferred from direct assay	12517771	GOA
involved in double-strand break repair	IDA IDA: Inferred from direct assay	9242410	GOA
involved in double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	12517771	GOA
involved in double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	9809069	GOA
involved in positive regulation of ligase activity	IDA IDA: Inferred from direct assay	9242410	GOA
involved in positive regulation of phosphatidylserine exposure on apoptotic cell surface	IDA IDA: Inferred from direct assay	33725486	GOA
involved in protein localization to site of double-strand break	IDA IDA: Inferred from direct assay	31548606	GOA
involved in response to X-ray	IDA IDA: Inferred from direct assay	9242410	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of DNA ligase IV complex	IDA IDA: Inferred from direct assay	9242410	GOA
part of DNA-dependent protein kinase-DNA ligase 4 complex	IDA IDA: Inferred from direct assay	15194694	GOA
NOT located in condensed chromosome	IDA IDA: Inferred from direct assay	12589063	GOA
is active in cytoplasm	IDA IDA: Inferred from direct assay	33725486	GOA
located in cytosol	IDA IDA: Inferred from direct assay	9259561	GOA
part of nonhomologous end joining complex	IDA IDA: Inferred from direct assay	20383123	GOA
is active in nucleus	IDA IDA: Inferred from direct assay	25597996	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9259561	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	26774286	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	31548606	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XRCC4 Protein Structure

XRCC4

0
100
200
300
336 a.a.

Protein Preferred Names

Protein Names

DNA repair protein XRCC4

X-ray repair complementing defective repair in Chinese hamster cells 4

XRCC4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	XRCC4	Q13426	FAM9B	Homo sapiens	Q8IZU0	Y2H Array	31515488
Intra	XRCC4	Q13426	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	25416956
Intra	XRCC4	Q13426	FAM9B	Homo sapiens	Q8IZU0	Validated Y2H	32296183
Intra	XRCC4	Q13426	FAM9B	Homo sapiens	Q8IZU0	Y2H Array	25416956
Intra	XRCC4	Q13426	PNKP	Homo sapiens	Q96T60	Validated Y2H	32296183
Intra	XRCC4	Q13426	PNKP	Homo sapiens	Q96T60	Pull Down	15385968
Intra	XRCC4	Q13426	PNKP	Homo sapiens	Q96T60	Anti Tag CoIP	33961781
Intra	XRCC4	Q13426	PNKP	Homo sapiens	Q96T60	Anti Tag CoIP	28514442
Intra	XRCC4	Q13426	PNKP	Homo sapiens	Q96T60	Anti Tag CoIP	21637298
Intra	XRCC4	Q13426	MAGEA6	Homo sapiens	P43360	Y2H Prey Pooling	32296183
Intra	XRCC4	Q13426	MAGEA6	Homo sapiens	P43360	Y2H Array	32296183
Intra	XRCC4	Q13426	APLF	Homo sapiens	Q8IW19	Y2H	23178593
Intra	XRCC4	Q13426	XRCC4	Homo sapiens	Q13426-3	Y2H Bait-Prey Pool	25910212
Intra	XRCC4	Q13426	XRCC4	Homo sapiens	Q13426-3	Y2H Array	25910212
Intra	XRCC4	Q13426	XRCC4	Homo sapiens	Q13426-3	Validated Y2H	25910212
Intra	XRCC4	Q13426	NHEJ1	Homo sapiens	Q9H9Q4-1	X-Ray Diffraction	21768349
Intra	XRCC4	Q13426	NHEJ1	Homo sapiens	Q9H9Q4-1	GMS	21768349
Intra	XRCC4	Q13426	NHEJ1	Homo sapiens	Q9H9Q4-1	ITC	21768349
Intra	XRCC4	Q13426	NHEJ1	Homo sapiens	Q9H9Q4-1	TEM	21768349
Intra	XRCC4	Q13426	GSC2	Homo sapiens	O15499	Y2H Array	32296183
Intra	XRCC4	Q13426	GSC2	Homo sapiens	O15499	Y2H Prey Pooling	32296183
Intra	XRCC4	Q13426	IFFO1	Homo sapiens	Q0D2I5-5	X-Ray Diffraction	31548606
Intra	XRCC4	Q13426	ASTE1	Homo sapiens	Q2TB18	Y2H Prey Pooling	25416956
Intra	XRCC4	Q13426	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
Intra	XRCC4	Q13426	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
Intra	XRCC4	Q13426	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	XRCC4	Q13426	LIG4	Homo sapiens	P49917	Validated Y2H	25416956
Intra	XRCC4	Q13426	LIG4	Homo sapiens	P49917	Y2H Array	25416956
Intra	XRCC4	Q13426	LIG4	Homo sapiens	P49917	Anti Tag CoIP	33961781
Intra	XRCC4	Q13426	LIG4	Homo sapiens	P49917	Anti Bait CoIP	31548606
Intra	XRCC4	Q13426	LIG4	Homo sapiens	P49917	Anti Tag CoIP	28514442
Intra	XRCC4	Q13426	LIG4	Homo sapiens	P49917	Anti Tag CoIP	31548606
Intra	XRCC4	Q13426	LIG4	Homo sapiens	P49917	X-Ray Diffraction	11702069
Intra	XRCC4	Q13426	BIN1	Homo sapiens	O00499	Y2H	16275660
Intra	XRCC4	Q13426	HAUS2	Homo sapiens	Q9NVX0	Y2H Prey Pooling	32296183
Intra	XRCC4	Q13426	HAUS2	Homo sapiens	Q9NVX0	Validated Y2H	32296183
Intra	XRCC4	Q13426	HAUS2	Homo sapiens	Q9NVX0	Y2H Array	32296183
Intra	XRCC4	Q13426	IFFO1	Homo sapiens	Q0D2I5	Anti Tag CoIP	33961781
Intra	XRCC4	Q13426	IFFO1	Homo sapiens	Q0D2I5	Y2H Pooling	16189514
Intra	XRCC4	Q13426	IFFO1	Homo sapiens	Q0D2I5	Anti Bait CoIP	31548606
Intra	XRCC4	Q13426	IFFO1	Homo sapiens	Q0D2I5	Anti Tag CoIP	31548606
Intra	XRCC4	Q13426	NHEJ1	Homo sapiens	Q9H9Q4	CoIP	16439205
Intra	XRCC4	Q13426	NHEJ1	Homo sapiens	Q9H9Q4	Anti Bait CoIP	16439205
Intra	XRCC4	Q13426	NHEJ1	Homo sapiens	Q9H9Q4	BRET	29997244
Intra	XRCC4	Q13426	NHEJ1	Homo sapiens	Q9H9Q4	Pull Down	16439205
Intra	XRCC4	Q13426	APTX	Homo sapiens	Q7Z2E3	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

XRCC4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81337	XRCC4 Antibody (YA1082)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases

Alias

Short Stature, Microcephaly, And Endocrine Dysfunction

SSMED

Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Lig4 Syndrome

Dna Ligase Iv Deficiency	Ligase 4 Syndrome
LIG4S

Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation

Severe Combined Immunodeficiency, Athabascan Type	Severe Combined Immunodeficiency Due To Dclre1c Deficiency
Rs-Scid	Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation
Scid Due To Artemis Deficiency	Scid Due To Dclre1c Deficiency
Scid, Athabascan Type	Scid, Athabaskan Type
Severe Combined Immunodeficiency Due To Artemis Deficiency	Severe Combined Immunodeficiency, Athabaskan Type
SCIDA	Severe Combined Immunodeficiency, Athabascan-Type
Artemis Deficiency	Severe Combined Immunodeficiency Athabaskan Type
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation	RSSCID
Athabascan Scid	Immunodeficiency, Severe Combined, Athabascan Type
Severe Combined Immunodeficiency, Athabaskan-Type

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Dubowitz Syndrome

Dubowitz'S Syndrome	Dwarfism-Eczema-Peculiar Facies Syndrome
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Multinodular Goiter

Spinocerebellar Ataxia Type 1 With Axonal Neuropathy

Scan1	Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy	Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy
Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy	Spinocerebellar Ataxia With Axonal Neuropathy
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy	Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Charcot-Marie-Tooth Disease Type 2b2	CMT2B2
Arcmt2b	Charcot-Marie-Tooth Disease, Type 2b2
Ar-Cmt2b2	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
Autosomal Recessive Axonal Cmt4c3	Charcot-Marie-Tooth Disease Neuronal Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b2	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2	Charcot-Marie-Tooth Neuropathy, Type 2b2
Charcot-Marie-Tooth Disease 2b2	Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
Charcot-Marie-Tooth Disease Axonal Type 2b2

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Autosomal Recessive Cerebellar Ataxia

Arca

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome	NBS
Microcephaly, Normal Intelligence And Immunodeficiency	Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant V1	Seemanova Syndrome Ii
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome	Seemanova Syndrome Type 2
At-V1	Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence	Immunodeficiency, Microcephaly, And Chromosomal Instability
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome	Microcephaly Immunodeficiency Lymphoreticuloma
Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies	Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence
Seemanova Syndrome 2	Ataxia-Telangiectasia Variant 1
Seemanova Syndrome	At V1
Ataxia-Telangiectasia, Variant 1	Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
V-At	Ataxia Telangiectasia Variant V1

Omenn Syndrome

Histiocytic Medullary Reticulosis	Severe Combined Immunodeficiency With Hypereosinophilia
Combined Immunodeficiency With Hypereosinophilia	Reticuloendotheliosis, Familial, With Eosinophilia
Reticuloendotheliosis Familial With Eosinophilia	Familial Reticuloendotheliosis
Omenn'S Syndrome	OS
Malignant Histiocytosis

Cockayne Syndrome A

Cockayne Syndrome Type 1	Cockayne Syndrome, Type A
Cockayne Syndrome Type I	CSA
Cockayne Syndrome Classic Form	Cockayne Syndrome Classical
Cockayne Syndrome Type A	Ckn1

Trichothiodystrophy

Ttd	Amish Brittle Hair Syndrome
Bids Syndrome	Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Ibids	Pibids
Trichothiodystrophy Syndromes

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15899	XRCC4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	XRCC4	VGNC	VGNC:48468
Macaca mulatta	XRCC4	VGNC	VGNC:110421
Felis catus	XRCC4	VGNC	VGNC:67119
Bos taurus	XRCC4	VGNC	VGNC:37005
Rattus norvegicus	XRCC4	RGD	RGD:1359573
Mus musculus	XRCC4	MGD	MGI:1333799

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