H2AC4 (H2A clustered histone 4)

Gene

• Entrez ID: 8335
• Gene name: H2A clustered histone 4
• Gene symbol: H2AC4
• Synonyms (NCBI Gene): H2A/m, H2AC8, H2AFM, HIST1H2AB
• 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. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the f

Gene ontology (GO)

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

Other IDs

• MIM: 602795
• HGNC: 4734
• e!Ensembl: ENSG00000278463

Interactions View interactions

Pathways

KEGG:

ATP-dependent chromatin remodeling
Necroptosis
Neutrophil extracellular trap formation
Alcoholism
Systemic lupus erythematosus

Reactome:

Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Packaging Of Telomere Ends
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
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

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22690089	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25855937	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	21768215, 23263486		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29184082	Associate	★☆☆☆☆ Found in Text Mining only