• Gene id: 3014

Gene Summary

• Gene Symbol: H2AFX   Gene   UCSC   Ensembl
• Aliases: H2A.X, H2A/X, H2AX
• Gene name: H2A histone family member X
• Alternate names: histone H2AX, H2AX histone, histone H2A.x,
• Gene location: 11q23.3 (119095466: 119093873)     Exons: 1     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 601772

Protein Summary

• Protein general information: P16104  
  • Name: Histone H2AX (H2a/x) (Histone H2A.X)
  • Length: 143  
  • Mass: 15,145
• Sequence:

  MSGRGKTGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGHYAERVGAGAPVYLAAVLEYLTAEILELAGNAARDNK
  KTRIIPRHLQLAIRNDEELNKLLGGVTIAQGGVLPNIQAVLLPKKTSATVGPKAPSGGKKATQASQEY

• Structural information:
  • Interpro: IPR009072  IPR002119  IPR007125  IPR032454  IPR032458  
  • Prosite: PS00046
  • CDD: cd00074
  • PDB: 1YDP 2AZM 2D31 2DYP 3SHV 3SQD 3SZM 3U3Z
  • PDBsum: 1YDP 2AZM 2D31 2DYP 3SHV 3SQD 3SZM 3U3Z
  • DIP: 33604
  • STRING: ENSP00000364310
• Other Databases: GeneCards:  H2AFX  Malacards:  H2AFX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000077	DNA damage checkpoint	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0000786	nucleosome	IEA	cellular component
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0001673	male germ cell nucleus	IEA	cellular component
GO:0001741	XY body	IEA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005657	replication fork	IEA	cellular component
GO:0006302	double-strand break repair	NAS	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0006334	nucleosome assembly	NAS	biological process
GO:0006342	chromatin silencing	IBA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0010212	response to ionizing radiation	NAS	biological process
GO:0016032	viral process	IEA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0021987	cerebral cortex development	IEA	biological process
GO:0035861	site of double-strand break	IDA	cellular component
GO:0042393	histone binding	IPI	molecular function
GO:0045739	positive regulation of DNA repair	NAS	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071480	cellular response to gamma radiation	IEA	biological process
GO:0090398	cellular senescence	IEA	biological process
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0000077	DNA damage checkpoint	IDA	biological process
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0000786	nucleosome	IEA	cellular component
GO:0000786	nucleosome	IEA	cellular component
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0001673	male germ cell nucleus	IEA	cellular component
GO:0001741	XY body	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IBA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0003684	damaged DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005657	replication fork	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006302	double-strand break repair	NAS	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0006334	nucleosome assembly	NAS	biological process
GO:0006342	chromatin silencing	IBA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0010212	response to ionizing radiation	NAS	biological process
GO:0016032	viral process	IEA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0021987	cerebral cortex development	IEA	biological process
GO:0035861	site of double-strand break	IEA	cellular component
GO:0035861	site of double-strand break	IDA	cellular component
GO:0042393	histone binding	IPI	molecular function
GO:0045739	positive regulation of DNA repair	NAS	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071480	cellular response to gamma radiation	IEA	biological process
GO:0090398	cellular senescence	IEA	biological process
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0000077	DNA damage checkpoint	IDA	biological process
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006302	double-strand break repair	NAS	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0006334	nucleosome assembly	NAS	biological process
GO:0006342	chromatin silencing	IBA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0010212	response to ionizing radiation	NAS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0035861	site of double-strand break	IDA	cellular component
GO:0042393	histone binding	IPI	molecular function
GO:0045739	positive regulation of DNA repair	NAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000781	chromosome, telomeric region	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04217	Necroptosis
hsa05322	Systemic lupus erythematosus
hsa05034	Alcoholism

Diseases

Associated diseases	References
Cancer	GAD: 19536649
Cancer (bladder)	GAD: 18638378
Cancer (prostate)	GAD: 19638463
Cancer (lymphoma)	GAD: 17548670
Cancer (breast)	GAD: 19536649
Oligozoospermia	GAD: 18536151
Endometriosis	INFBASE: 25912412
Female infertility	INFBASE: 25912412
Azoospermia	MIK: 18536151
Male factor infertility	MIK: 26158906
Spermatogenesis defects	MIK: 18536151
Spermatogenesis defects	MIK: 18536151
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 26158906
Spermatogenic impairment	MIK: 18536151
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18536151	Spermatogenic impairment			500 (302 patients with azoospermia or severe oligospermia, 198 normospermic controls)	Male infertility
26158906	Male infertility			200 (100 male infertile patients, 100 healthy sperm donors)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881