1. Gene
  2. H2AX - H2A.X variant histone Gene

H2AX - H2A.X variant histone Gene

Homo sapiens

Also known as H2A.X; H2A/X; H2AFX

Gene ID: 3014 | Gene type: protein coding

About H2AX

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,093,874-119,095,465 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues and 27 paralogues.

Summary

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]

H2AX Products(1)

mRNA Protein Name
NM_002105.3 NP_002096.1 histone H2AX
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables chromatin-protein adaptor activity IDA
IDA: Inferred from direct assay
12419185 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
19234442 GOA
enables histone binding IPI
IPI: Inferred from physical interaction
19234442 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12419185 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA damage checkpoint signaling IDA
IDA: Inferred from direct assay
17974976 GOA
involved in DNA damage response IDA
IDA: Inferred from direct assay
15149599 GOA
involved in DNA damage response IMP
IMP: Inferred from mutant phenotype
27248496 GOA
involved in protein localization to site of double-strand break IDA
IDA: Inferred from direct assay
12419185 GOA
Cellular Component GO Annotation Evidence Reference Source
located in centrosome IDA
IDA: Inferred from direct assay
17498979 GOA
colocalizes with chromosome, telomeric region IDA
IDA: Inferred from direct assay
15149599 GOA
located in nucleus IDA
IDA: Inferred from direct assay
11331621 GOA
located in nucleus IMP
IMP: Inferred from mutant phenotype
24507776 GOA
located in site of DNA damage IMP
IMP: Inferred from mutant phenotype
27248496 GOA
is active in site of double-strand break IDA
IDA: Inferred from direct assay
12419185 GOA
located in site of double-strand break IDA
IDA: Inferred from direct assay
21270334 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

H2AX Protein Structure

Histone

Histone: Core histone H2A/H2B/H3/H4 (18 - 91)

  • 0
  • 100
  • 143 a.a.
Protein Preferred Names Protein Names

histone H2AX

H2A histone family member X

H2AX Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
H2AX P16104 PPM1D Homo sapiens O15297
Anti Tag CoIP
20118229
Cross
H2AX P16104 Eya3 Mus musculus Q6P4T3
Anti Tag CoIP
19234442
Cross
H2AX P16104 Eya3 Mus musculus Q6P4T3
Phosphatase Assay
19234442
Intra
H2AX P16104 VRK1 Homo sapiens Q99986
Protein Kinase Assay
25923214
Intra
H2AX P16104 MAPK8 Homo sapiens P45983
Pull Down
19234442
Intra
H2AX P16104 H4C16 Homo sapiens P62805
Anti Tag CoIP
20000738
Intra
H2AX P16104 H4C16 Homo sapiens P62805
Anti Tag CoIP
33961781
Intra
H2AX P16104 H4C16 Homo sapiens P62805
Anti Tag CoIP
20224553
Intra
H2AX P16104 H4C16 Homo sapiens P62805
Anti Tag CoIP
28514442
Intra
H2AX P16104 H4C16 Homo sapiens P62805
TAP
24981860
Intra
H2AX P16104 SMARCA4 Homo sapiens P51532
Anti Tag CoIP
20224553
Intra
H2AX P16104 BRCA1 Homo sapiens P38398
IF
18001825
Intra
H2AX P16104 BRCA1 Homo sapiens P38398
Confocal
18001824
Intra
H2AX P16104 LMNA Homo sapiens P02545
Anti Tag CoIP
23658700
Intra
H2AX P16104 LMNA Homo sapiens P02545
Anti Tag CoIP
20000738
Intra
H2AX P16104 LMNA Homo sapiens P02545
PLA
23658700
Intra
H2AX P16104 H3-4 Homo sapiens Q16695
Anti Tag CoIP
20224553
Intra
H2AX P16104 MRE11 Homo sapiens P49959
Imaging
12419185
Intra
H2AX P16104 MRE11 Homo sapiens P49959
Pull Down
19234442
Intra
H2AX P16104 MRE11 Homo sapiens P49959
Pull Down
16377563
Intra
H2AX P16104 MRE11 Homo sapiens P49959
CoIP
12419185
Intra
H2AX P16104 MRE11 Homo sapiens P49959
Pull Down
18583988
Intra
H2AX P16104 TP53BP1 Homo sapiens Q12888
IF
21317870
Intra
H2AX P16104 TP53BP1 Homo sapiens Q12888
Confocal
18001824
Intra
H2AX P16104 H2BC5 Homo sapiens P58876
Crosslink
30021884
Intra
H2AX P16104 H2BC5 Homo sapiens P58876
Anti Tag CoIP
33961781
Intra
H2AX P16104 H2BC5 Homo sapiens P58876
Anti Tag CoIP
28514442
Intra
H2AX P16104 NBN Homo sapiens O60934
CoIP
12419185
Intra
H2AX P16104 NBN Homo sapiens O60934
Pull Down
16377563
Intra
H2AX P16104 NBN Homo sapiens O60934
IF
22565321
Intra
H2AX P16104 NBN Homo sapiens O60934
Pull Down
18583988
Intra
H2AX P16104 MDC1 Homo sapiens Q14676
Imaging
12607005
Intra
H2AX P16104 MDC1 Homo sapiens Q14676
Pull Down
16377563
Intra
H2AX P16104 MDC1 Homo sapiens Q14676
Pull Down
18583988
Intra
H2AX P16104 MDC1 Homo sapiens Q14676
Anti Tag CoIP
19234442
Intra
H2AX P16104 MDC1 Homo sapiens Q14676
Pull Down
19234442
Intra
H2AX P16104 MDC1 Homo sapiens Q14676
X-Ray Diffraction
16377563
Cross
H2AX P16104 Q9Z0X1-PRO_0000022031 Mus musculus Q9Z0X1-PRO_0000022031
SPR
20360685
Intra
H2AX P16104 TERF2 Homo sapiens Q15554
Pull Down
21044950
Intra
H2AX P16104 TERF2 Homo sapiens Q15554
IF
21824286
Intra
H2AX P16104 PAXIP1 Homo sapiens Q6ZW49-1
FPS
22064073
Cross
H2AX P16104 Apbb1 Rattus norvegicus P46933-1
Anti Tag CoIP
19234442
Cross
H2AX P16104 Apbb1 Rattus norvegicus P46933-1
Pull Down
19234442
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Riddle Syndrome

RIDL

Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome

Rnf168 Deficiency

Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties

Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties

Diffuse Large B-Cell Lymphoma

Dlbcl

Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

Large B-Cell Diffuse Lymphoma

Lymphoma, Large B-Cell, Diffuse

Dlbcl - [Diffuse Large B-Cell Lymphoma]

Diffuse Large Beta Cell Lymphoma

B-Cell Lymphoma

Lymphoma, B-Cell

B-Cell Lymphomas

B-Cell Lymphocytic Neoplasm

Lymphoma B-Cell

B-Cell Lymphoma 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

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Epicardium Cancer

Malignant Neoplasm Of Epicardium

Epicardial Tumor

Malignant Epicardial Tumor

Neoplasm Of Epicardium

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Autosomal Recessive Cerebellar Ataxia

Arca

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Bone Cancer

Malignant Bone Neoplasm

Bone Carcinoma

Bone Neoplasms

Bone Neoplasm

Bone Tumour

Ca - Bone Cancer

Malignant Bone Tumour

Malignant Neoplasm Of Bone

Malignant Osseous Tumor

Neoplasm Of Bone

Osseous Tumor

Osteosarcoma Of Bone

Osteogenic Neoplasm

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

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

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

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

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

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta H2AX VGNC VGNC:109694
Felis catus H2AX VGNC VGNC:109892
Rattus norvegicus H2AX RGD RGD:1566119
Bos taurus H2AX VGNC VGNC:83617
Mus musculus H2AX MGD MGI:102688
Canis familiaris H2AX VGNC VGNC:83734