Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	3012
Gene name	H2A clustered histone 8
Gene symbol	H2AC8
Synonyms (NCBI Gene)	H2A.1H2A.2H2A/aH2AC4H2AFAHIST1H2AE
Chromosome	6
Chromosome location	6p22.2
Summary	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core hi

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000786	Component	Nucleosome	IBA
GO:0000786	Component	Nucleosome	IEA
GO:0000786	Component	Nucleosome	IPI	20498094, 21812398, 26694698
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	6647026
GO:0005515	Function	Protein binding	IPI	20498094, 21743476, 30021884, 31142837, 32296183, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16319397, 16457589
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	NAS	31790919
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	23956221
GO:0030527	Function	Structural constituent of chromatin	IBA
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0043505	Component	CENP-A containing nucleosome	IPI	21743476
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0061644	Process	Protein localization to CENP-A containing chromatin	NAS	21743476
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145

MIM	HGNC	e!Ensembl
602786	4724	ENSG00000277075

Interactions View interactions

KEGG Pathway	Reactome Pathway
ATP-dependent chromatin remodeling	Recognition and association of DNA glycosylase with site containing an affected purine
Necroptosis	Cleavage of the damaged purine
Neutrophil extracellular trap formation	Packaging Of Telomere Ends
Alcoholism	Formation of the beta-catenin:TCF transactivating complex
Systemic lupus erythematosus	PRC2 methylates histones and DNA
	Condensation of Prophase Chromosomes
	Oxidative Stress Induced Senescence
	Senescence-Associated Secretory Phenotype (SASP)
	DNA Damage/Telomere Stress Induced Senescence
	HDACs deacetylate histones
	HATs acetylate histones
	RMTs methylate histone arginines
	SIRT1 negatively regulates rRNA expression
	NoRC negatively regulates rRNA expression
	B-WICH complex positively regulates rRNA expression
	Transcriptional regulation by small RNAs
	Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
	UCH proteinases
	Ub-specific processing proteases
	Metalloprotease DUBs
	Deposition of new CENPA-containing nucleosomes at the centromere
	RNA Polymerase I Promoter Opening
	RNA Polymerase I Promoter Escape
	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
	Estrogen-dependent gene expression
	HCMV Early Events
	HCMV Late Events
	Amyloid fiber formation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARTHRITIS, JUVENILE	—	CTD	19565504	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
H2BC8	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	28	["Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","HCMV Early Events","Senescence-Associated Secretory Phenotype (SASP)"]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]
ACP3	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	0	[]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]
ACRBP	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	0	[]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]
ANKRD9	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	0	[]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]
AVL9	3	["Juvenile arthritis","Juvenile idiopathic arthritis","Oligoarticular juvenile idiopathic arthritis"]	0	[]	3	["CTD (Juvenile arthritis)","Disgenet (Juvenile idiopathic arthritis)","Disgenet (Oligoarticular juvenile idiopathic arthritis)"]

H2AC8 (H2A clustered histone 8)

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