Endometriosis Knowledgebase

Search Result

Gene id

3014

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 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]

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

Motifs	[ST]-Q motif.(140-141)
Interpro:	IPR009072 IPR002119 IPR007125 IPR032454 IPR032458
Prosite:	PS00046
Pfam:	PF00125 PF16211
PDB:	1YDP 2AZM 2D31 2DYP 3SHV 3SQD 3SZM 3U3Z
PDBsum:	1YDP 2AZM 2D31 2DYP 3SHV 3SQD 3SZM 3U3Z
DIP:	33604
MINT:	1338182
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 repai r via homologous recombin ation	IEA	biological_process
GO:0000786	nucleosome	IEA	cellular_component
GO:0000790	nuclear chromatin	IBA	cellular_component
GO:0000794	condensed nuclear chromos ome	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 repai r	NAS	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	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 radi ation	NAS	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0021987	cerebral cortex developme nt	IEA	biological_process
GO:0035861	site of double-strand bre ak	IDA	cellular_component
GO:0042393	histone binding	IPI	molecular_function
GO:0045739	positive regulation of DN A repair	NAS	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0051321	meiotic cell cycle	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071480	cellular response to gamm a radiation	IEA	biological_process
GO:0090398	cellular senescence	IEA	biological_process
GO:0000781	chromosome, telomeric reg ion	IDA	cellular_component
GO:0000077	DNA damage checkpoint	IDA	biological_process
GO:0000724	double-strand break repai r via homologous recombin ation	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 chromos ome	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 repai r	NAS	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	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 radi ation	NAS	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0021987	cerebral cortex developme nt	IEA	biological_process
GO:0035861	site of double-strand bre ak	IEA	cellular_component
GO:0035861	site of double-strand bre ak	IDA	cellular_component
GO:0042393	histone binding	IPI	molecular_function
GO:0045739	positive regulation of DN A repair	NAS	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0051321	meiotic cell cycle	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071480	cellular response to gamm a radiation	IEA	biological_process
GO:0090398	cellular senescence	IEA	biological_process
GO:0000781	chromosome, telomeric reg ion	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 repai r	NAS	biological_process
GO:0006303	double-strand break repai r via nonhomologous end j oining	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 radi ation	NAS	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0035861	site of double-strand bre ak	IDA	cellular_component
GO:0042393	histone binding	IPI	molecular_function
GO:0045739	positive regulation of DN A repair	NAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0000781	chromosome, telomeric reg ion	IDA	cellular_component

KEGG pathways

hsa04217  Necroptosis
hsa05034  Alcoholism
hsa05322  Systemic lupus erythematosus

Diseases

Associated diseases	References
Azoospermia	PMID: 18536151
Cancer	PMID: 19536649
Endometriosis	PMID: 25912412
Male infertility	PMID: 26158906
Endometriosis	INFBASE25912412
Spermatogenetic defects	PMID: 18536151

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25912412	Endometrio sis			179 (59 endomet rioid cancers, 36 clear cell c ases, 18 contig uous endometrio sis cases, 66 b enign endometri otic ovarian cy sts)		BAF250a AKT ?H2AX BIM BAX ATM CHK2 Bcl2	Show abstract