H2AZ2 (H2A.Z variant histone 2)

2014-11-01  

Identity

HGNC
LOCATION
7p13
LOCUSID
ALIAS
H2A.Z-2,H2AFV,H2AV

Other Information

Locus ID:

NCBI: 94239
HGNC: 20664
Ensembl: ENSG00000105968

Variants:

dbSNP: 94239
ClinVar: 94239
TCGA: ENSG00000105968
COSMIC: H2AZ2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105968ENST00000222690Q71UI9
ENSG00000105968ENST00000308153Q71UI9
ENSG00000105968ENST00000349299Q71UI9
ENSG00000105968ENST00000350771Q71UI9
ENSG00000105968ENST00000381124Q71UI9
ENSG00000105968ENST00000437072C9J386
ENSG00000105968ENST00000446531C9J0D1
ENSG00000105968ENST00000521529E5RJU1

Pathways

PathwaySourceExternal ID
Systemic lupus erythematosusKEGGko05322
Systemic lupus erythematosusKEGGhsa05322
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases activate PKNsREACTOMER-HSA-5625740
Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3REACTOMER-HSA-5625886
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Formation of the beta-catenin:TCF transactivating complexREACTOMER-HSA-201722
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase I TranscriptionREACTOMER-HSA-73864
RNA Polymerase I Promoter ClearanceREACTOMER-HSA-73854
RNA Polymerase I Promoter OpeningREACTOMER-HSA-73728
RNA Polymerase I Chain ElongationREACTOMER-HSA-73777
Gene Silencing by RNAREACTOMER-HSA-211000
Transcriptional regulation by small RNAsREACTOMER-HSA-5578749
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
PRC2 methylates histones and DNAREACTOMER-HSA-212300
Negative epigenetic regulation of rRNA expressionREACTOMER-HSA-5250941
SIRT1 negatively regulates rRNA ExpressionREACTOMER-HSA-427359
NoRC negatively regulates rRNA expressionREACTOMER-HSA-427413
DNA methylationREACTOMER-HSA-5334118
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Condensation of Prophase ChromosomesREACTOMER-HSA-2299718
Chromosome MaintenanceREACTOMER-HSA-73886
Nucleosome assemblyREACTOMER-HSA-774815
Deposition of new CENPA-containing nucleosomes at the centromereREACTOMER-HSA-606279
Telomere MaintenanceREACTOMER-HSA-157579
Packaging Of Telomere EndsREACTOMER-HSA-171306
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446
Meiotic synapsisREACTOMER-HSA-1221632
Developmental BiologyREACTOMER-HSA-1266738
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
Oxidative Stress Induced SenescenceREACTOMER-HSA-2559580
DNA Damage/Telomere Stress Induced SenescenceREACTOMER-HSA-2559586
Senescence-Associated Secretory Phenotype (SASP)REACTOMER-HSA-2559582
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
RMTs methylate histone argininesREACTOMER-HSA-3214858
Positive epigenetic regulation of rRNA expressionREACTOMER-HSA-5250913
B-WICH complex positively regulates rRNA expressionREACTOMER-HSA-5250924
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expressionREACTOMER-HSA-427389

References

Pubmed IDYearTitleCitations
350727992022Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.3
350727992022Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.3
243115842013Structural polymorphism in the L1 loop regions of human H2A.Z.1 and H2A.Z.2.32
243115842013Structural polymorphism in the L1 loop regions of human H2A.Z.1 and H2A.Z.2.32

Citation

Dessen P

H2AZ2 (H2A.Z variant histone 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64149/h2az2-(h2a-z-variant-histone-2)