ENSG00000188486


Homo sapiens

Features
Gene ID: ENSG00000188486
  
Biological name :H2AFX
  
Synonyms : H2AFX / H2A histone family member X / P16104
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q23.3
Gene start: 119093854
Gene end: 119095467
  
Corresponding Affymetrix probe sets: 205436_s_at (Human Genome U133 Plus 2.0 Array)   212524_x_at (Human Genome U133 Plus 2.0 Array)   212525_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000434024
Ensembl peptide - ENSP00000364310
NCBI entrez gene - 3014     See in Manteia.
OMIM - 601772
RefSeq - NM_002105
RefSeq Peptide - NP_002096
swissprot - P16104
Ensembl - ENSG00000188486
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CR354435.3ENSDARG00000111536Danio rerio
 CR354435.4ENSDARG00000113707Danio rerio
 CU302436.3ENSDARG00000113800Danio rerio
 CU457819.1ENSDARG00000100279Danio rerio
 FP236812.2ENSDARG00000109926Danio rerio
 FP236812.4ENSDARG00000115875Danio rerio
 FP340257.1ENSDARG00000100024Danio rerio
 h2afxENSDARG00000029406Danio rerio
 h2afx1ENSDARG00000068995Danio rerio
 hist1h2a1ENSDARG00000109458Danio rerio
 hist1h2a10ENSDARG00000105366Danio rerio
 hist1h2a10ENSDARG00000112840Danio rerio
 hist1h2a11ENSDARG00000105444Danio rerio
 hist1h2a11ENSDARG00000088686Danio rerio
 hist1h2a11ENSDARG00000100906Danio rerio
 hist1h2a11ENSDARG00000086552Danio rerio
 hist1h2a11ENSDARG00000098595Danio rerio
 hist1h2a2ENSDARG00000112593Danio rerio
 hist1h2a2ENSDARG00000070280Danio rerio
 hist1h2a2ENSDARG00000111648Danio rerio
 hist1h2a2ENSDARG00000109755Danio rerio
 hist1h2a2ENSDARG00000110809Danio rerio
 hist1h2a4ENSDARG00000105314Danio rerio
 hist1h2a4ENSDARG00000051736Danio rerio
 hist1h2a4ENSDARG00000113399Danio rerio
 hist1h2a4ENSDARG00000103015Danio rerio
 hist1h2a4ENSDARG00000105400Danio rerio
 hist1h2a4ENSDARG00000099123Danio rerio
 hist1h2a5ENSDARG00000114133Danio rerio
 si:ch1073-153i20.5ENSDARG00000105478Danio rerio
 si:ch211-113a14.19ENSDARG00000113481Danio rerio
 ENSGALG00000045705Gallus gallus
 ENSGALG00000026449Gallus gallus
 H2afxENSMUSG00000049932Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AL031777.3ENSG0000028298883
H2AFJ / Q9BTM1 / H2A histone family member JENSG0000024670583
P0C0S8 / HIST1H2AL / histone cluster 1 H2A family member lENSG0000027690383
Q99878 / HIST1H2AJ / histone cluster 1 H2A family member jENSG0000027636883
Q6FI13 / HIST2H2AA4 / histone cluster 2 H2A family member a4ENSG0000027219683
Q6FI13 / HIST2H2AA3 / histone cluster 2 H2A family member a3ENSG0000020381283
Q7L7L0 / HIST3H2A / histone cluster 3 H2AENSG0000018121883
Q16777 / HIST2H2AC / histone cluster 2 H2A family member cENSG0000018426083
Q93077 / HIST1H2AC / histone cluster 1 H2A family member cENSG0000018057383
Q8IUE6 / HIST2H2AB / histone cluster 2 H2A family member bENSG0000018427083
P0C0S8 / HIST1H2AM / histone cluster 1 H2A family member mENSG0000027867783
Q96KK5 / HIST1H2AH / histone cluster 1 H2A family member hENSG0000027499783
P0C0S8 / HIST1H2AG / histone cluster 1 H2A family member gENSG0000019678783
P0C0S8 / HIST1H2AI / histone cluster 1 H2A family member iENSG0000019674783
P0C0S8 / HIST1H2AK / histone cluster 1 H2A family member kENSG0000027522183
P20671 / HIST1H2AD / histone cluster 1 H2A family member dENSG0000019686682
Q96QV6 / HIST1H2AA / histone cluster 1 H2A family member aENSG0000016450881
H2AFY / O75367 / H2A histone family member YENSG0000011364862
H2AFY2 / Q9P0M6 / H2A histone family member Y2ENSG0000009928459
H2AFB1 / P0C5Y9 / H2A histone family member B1ENSG0000027418336


Protein motifs (from Interpro)
Interpro ID Name
 IPR002119  Histone H2A
 IPR007125  Histone H2A/H2B/H3
 IPR009072  Histone-fold
 IPR032454  Histone H2A, C-terminal domain
 IPR032458  Histone H2A conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000077 DNA damage checkpoint IDA
 biological_processGO:0000724 double-strand break repair via homologous recombination IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006302 double-strand break repair NAS
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining TAS
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006334 nucleosome assembly NAS
 biological_processGO:0006342 chromatin silencing IBA
 biological_processGO:0006974 cellular response to DNA damage stimulus IDA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0010212 response to ionizing radiation NAS
 biological_processGO:0016032 viral process IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0045739 positive regulation of DNA repair NAS
 biological_processGO:0051321 meiotic cell cycle IEA
 biological_processGO:0071480 cellular response to gamma radiation IEA
 biological_processGO:0090398 cellular senescence IEA
 cellular_componentGO:0000781 chromosome, telomeric region IDA
 cellular_componentGO:0000785 chromatin IEA
 cellular_componentGO:0000786 nucleosome IEA
 cellular_componentGO:0000790 nuclear chromatin IBA
 cellular_componentGO:0000794 condensed nuclear chromosome IEA
 cellular_componentGO:0001673 male germ cell nucleus IEA
 cellular_componentGO:0001741 XY body IEA
 cellular_componentGO:0005634 nucleus IMP
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005657 replication fork IEA
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0035861 site of double-strand break IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003677 DNA binding IBA
 molecular_functionGO:0003684 damaged DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0042393 histone binding IPI
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
Meiotic synapsis
Packaging Of Telomere Ends
Pre-NOTCH Transcription and Translation
Formation of the beta-catenin:TCF transactivating complex
PRC2 methylates histones and DNA
Condensation of Prophase Chromosomes
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
DNA Damage/Telomere Stress Induced Senescence
RMTs methylate histone arginines
SIRT1 negatively regulates rRNA expression
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
NoRC negatively regulates rRNA expression
B-WICH complex positively regulates rRNA expression
DNA methylation
Transcriptional regulation by small RNAs
Activation of anterior HOX genes in hindbrain development during early embryogenesis
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Nonhomologous End-Joining (NHEJ)
Processing of DNA double-strand break ends
Deposition of new CENPA-containing nucleosomes at the centromere
G2/M DNA damage checkpoint
RNA Polymerase I Promoter Opening
RNA Polymerase I Chain Elongation
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
RUNX1 regulates transcription of genes involved in differentiation of HSCs
Estrogen-dependent gene expression
Meiotic recombination
Amyloid fiber formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000011485 PPP5C / P53041 / protein phosphatase 5 catalytic subunit  / reaction
 ENSG00000127663 KDM4B / O94953 / lysine demethylase 4B  / reaction / complex
 ENSG00000080345 RIF1 / Q5UIP0 / replication timing regulatory factor 1  / complex / reaction
 ENSG00000104320 NBN / nibrin / O60934  / reaction / complex
 ENSG00000067369 Q12888 / TP53BP1 / tumor protein p53 binding protein 1  / complex / reaction
 ENSG00000139351 SYCP3 / Q8IZU3 / synaptonemal complex protein 3  / complex
 ENSG00000166313 APBB1 / O00213 / amyloid beta precursor protein binding family B member 1  / reaction / complex
 ENSG00000109685 NSD2 / O96028 / nuclear receptor binding SET domain protein 2  / complex / reaction
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / reaction / complex
 ENSG00000153147 O60264 / SMARCA5 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5  / reaction
 ENSG00000009954 BAZ1B / Q9UIG0 / bromodomain adjacent to zinc finger domain 1B  / reaction
 ENSG00000020922 MRE11 / P49959 / MRE11 homolog, double strand break repair nuclease  / complex / reaction
 ENSG00000183765 CHEK2 / O96017 / checkpoint kinase 2  / reaction / complex
 ENSG00000163961 Q8IYW5 / RNF168 / ring finger protein 168  / reaction / complex
 ENSG00000172977 KAT5 / Q92993 / lysine acetyltransferase 5  / reaction / complex
 ENSG00000188612 SUMO2 / P61956 / small ubiquitin-like modifier 2  / complex / reaction
 ENSG00000163322 Q6UWZ7 / ABRAXAS1 / abraxas 1, BRCA1 A complex subunit  / complex / reaction
 ENSG00000196419 XRCC6 / P12956 / X-ray repair cross complementing 6  / reaction
 ENSG00000196074 SYCP2 / Q9BX26 / synaptonemal complex protein 2  / complex
 ENSG00000175054 ATR / Q13535 / ATR serine/threonine kinase  / complex / reaction
 ENSG00000152457 Q96SD1 / DCLRE1C / DNA cross-link repair 1C  / reaction / complex
 ENSG00000107643 MAPK8 / P45983 / mitogen-activated protein kinase 8  / reaction / complex
 ENSG00000158161 EYA3 / Q99504 / EYA transcriptional coactivator and phosphatase 3  / reaction
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / complex
 ENSG00000066135 KDM4A / O75164 / lysine demethylase 4A  / reaction / complex
 ENSG00000137337 MDC1 / Q14676 / mediator of DNA damage checkpoint 1  / complex / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex
 ENSG00000169139 Q15819 / UBE2V2 / ubiquitin conjugating enzyme E2 V2  / reaction / complex
 ENSG00000128731 HERC2 / O95714 / HECT and RLD domain containing E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000113522 RAD50 / Q92878 / RAD50 double strand break repair protein  / complex / reaction
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / complex / reaction
 ENSG00000012048 BRCA1 / P38398 / BRCA1, DNA repair associated  / reaction / complex
 ENSG00000188486 H2AFX / P16104 / H2A histone family member X  / complex
 ENSG00000157212 PAXIP1 / Q6ZW49 / PAX interacting protein 1  / reaction / complex
 ENSG00000105229 PIAS4 / Q8N2W9 / protein inhibitor of activated STAT 4  / complex / reaction
 ENSG00000112130 RNF8 / O76064 / ring finger protein 8  / reaction / complex
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction / complex
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000079246 XRCC5 / P13010 / X-ray repair cross complementing 5  / reaction
 ENSG00000087206 UIMC1 / Q96RL1 / ubiquitin interaction motif containing 1  / complex / reaction






 

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