H3C2 (H3 clustered histone 2)

2019-08-01  

Identity

HGNC
H3C2
LOCATION
6p22.2
LOCUSID
8358
ALIAS
H3/l,H3C1,H3C10,H3C11,H3C12,H3C3,H3C4,H3C6,H3C7,H3C8,H3FL,HIST1H3B

Other Information

Locus ID:

NCBI: 8358
MIM: 602819
HGNC: 4776
Ensembl: ENSG00000286522

Variants:

dbSNP: 8358
ClinVar: 8358
TCGA: ENSG00000286522
COSMIC: H3C2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000286522ENST00000621411P68431

Pathways

PathwaySourceExternal ID
Systemic lupus erythematosusKEGGko05322
Systemic lupus erythematosusKEGGhsa05322
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-7 signalingREACTOMER-HSA-1266695
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
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
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446
Developmental BiologyREACTOMER-HSA-1266738
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
Oxidative Stress Induced SenescenceREACTOMER-HSA-2559580
Senescence-Associated Secretory Phenotype (SASP)REACTOMER-HSA-2559582
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847
HDACs deacetylate histonesREACTOMER-HSA-3214815
HDMs demethylate histonesREACTOMER-HSA-3214842
PKMTs methylate histone lysinesREACTOMER-HSA-3214841
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
358424802022Molecular assessment of paratesticular rhabdomyomas demonstrates recurrent findings, including a novel H3C2 p.K37I mutation.0
358424802022Molecular assessment of paratesticular rhabdomyomas demonstrates recurrent findings, including a novel H3C2 p.K37I mutation.0
324335772020Histone H3K27M Mutation Overrides Histological Grading in Pediatric Gliomas.24
324335772020Histone H3K27M Mutation Overrides Histological Grading in Pediatric Gliomas.24
290639572018Significance of H3K27M mutation with specific histomorphological features and associated molecular alterations in pediatric high-grade glial tumors.6
290639572018Significance of H3K27M mutation with specific histomorphological features and associated molecular alterations in pediatric high-grade glial tumors.6
267279482016Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics.77
267279482016Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics.77
263996312015Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes.257
263996312015Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes.257
242427572014Molecular analysis of diffuse intrinsic brainstem gliomas in adults.30
242427572014Molecular analysis of diffuse intrinsic brainstem gliomas in adults.30
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204423962010A modified "cross-talk" between histone H2B Lys-120 ubiquitination and H3 Lys-79 methylation.24
205876102010Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection.3

Citation

Dessen P

H3C2 (H3 clustered histone 2)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58118/new-content/