Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Pathways Associated diseases
Entrez ID	8364
Gene name	H4 clustered histone 3
Gene symbol	H4C3
Synonyms (NCBI Gene)	H4-16H4/gH4C1H4C11H4C12H4C13H4C14H4C15H4C16H4C2H4C4H4C5H4C6H4C8H4C9H4FGHIST1H4CTEBIVANED1TEVANED1dJ221C16.1
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. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000786	Component	Nucleosome	IDA	14718166, 20498094, 21636898, 24699735, 25615412
GO:0000786	Component	Nucleosome	IEA
GO:0000786	Component	Nucleosome	IPI	20498094, 21812398, 24311584, 26694698
GO:0000786	Component	Nucleosome	TAS	3035717
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	3035717
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	9540062, 10220385, 14585971, 15161933, 15933069, 16415788, 16917504, 17540172, 18404153, 18408754, 18474616, 18571423, 19410544, 19494831, 19498464, 19710015, 19862764, 20000738, 20224553, 20498094, 20618440, 20709061, 20739937, 20951943, 21085121, 21478274, 21596426, 21743476, 2188
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	14585971
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	NAS	31790919
GO:0006334	Process	Nucleosome assembly	IBA
GO:0006334	Process	Nucleosome assembly	IDA	14718166, 20498094, 21636898, 24699735, 25615412
GO:0016020	Component	Membrane	HDA	19946888
GO:0030527	Function	Structural constituent of chromatin	IBA
GO:0030527	Function	Structural constituent of chromatin	IDA	14718166
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0032200	Process	Telomere organization	TAS	17675446
GO:0032991	Component	Protein-containing complex	IDA	14718166
GO:0043505	Component	CENP-A containing nucleosome	IPI	21743476
GO:0045653	Process	Negative regulation of megakaryocyte differentiation	IDA	18474616
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, 20458337, 23533145

MIM	HGNC	e!Ensembl
602827	4787	ENSG00000197061

Interactions View interactions

	KEGG		Reactome
	Neutrophil extracellular trap formation Alcoholism Viral carcinogenesis Systemic lupus erythematosus		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 PKMTs methylate histone lysines HDMs demethylate histones HATs acetylate histones RMTs methylate histone arginines SIRT1 negatively regulates rRNA expression NoRC negatively regulates rRNA expression SUMOylation of chromatin organization proteins 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 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 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

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
H4C3-related disorder	Likely pathogenic	rs2481656826	RCV003893849
HIST1H4C-associated disorder	Pathogenic	rs1763200003	RCV001254079
Tessadori-van Haaften neurodevelopmental syndrome 1	Likely pathogenic; Pathogenic	rs2113784630, rs1763200003, rs2113784282	RCV001838837 RCV002273179 RCV005603818 RCV004548108

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cardiomyopathies	Associate	32196466
Polycystic Ovary Syndrome	Associate	25432544

H4C3 (H4 clustered histone 3)