Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

30 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 Pathway	Reactome Pathway
Neutrophil extracellular trap formation	Recognition and association of DNA glycosylase with site containing an affected purine
Alcoholism	Cleavage of the damaged purine
Viral carcinogenesis	Packaging Of Telomere Ends
Systemic lupus erythematosus	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

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	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
H4C3-related disorder	Likely pathogenic	rs2481656826	RCV003893849	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HIST1H4C-associated disorder	Pathogenic	rs1763200003	RCV001254079	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tessadori-van Haaften neurodevelopmental syndrome 1	Likely pathogenic; Pathogenic	rs2113784630, rs1763200003, rs2113784282	RCV001838837 RCV002273179 RCV005603818 RCV004548108	★★★★★ ★★★★☆ 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. Show/Hide Unknown Diseases (7)
CRANIOFACIAL ABNORMALITIES	—	CTD	28920961	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	28920961	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	28920961	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD	28920961	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	35202563	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1	—	Disgenet, HPO Disgenet, HPO	—	★★★★★ ★★☆☆☆ 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
H4C9	1	["Tessadori-van haaften neurodevelopmental syndrome"]	36	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","SUMOylation of chromatin organization proteins","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	4	["Orphanet (Non-specific syndromic intellectual disability)","Disgenet (Tessadori-van haaften neurodevelopmental syndrome)","HPO (Tessadori-van haaften neurodevelopmental syndrome)","ClinVar (Tessadori-van haaften neurodevelopmental syndrome)"]
H4C5	1	["Tessadori-van haaften neurodevelopmental syndrome"]	36	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","SUMOylation of chromatin organization proteins","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	4	["Orphanet (Non-specific syndromic intellectual disability)","Disgenet (Tessadori-van haaften neurodevelopmental syndrome)","HPO (Tessadori-van haaften neurodevelopmental syndrome)","ClinVar (Tessadori-van haaften neurodevelopmental syndrome)"]
H4C11	1	["Tessadori-van haaften neurodevelopmental syndrome"]	36	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","SUMOylation of chromatin organization proteins","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	3	["Disgenet (Tessadori-van haaften neurodevelopmental syndrome)","HPO (Tessadori-van haaften neurodevelopmental syndrome)","ClinVar (Tessadori-van haaften neurodevelopmental syndrome)"]
H4C1	1	["Tessadori-van haaften neurodevelopmental syndrome"]	36	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","SUMOylation of chromatin organization proteins","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	1	["Disgenet (Tessadori-van haaften neurodevelopmental syndrome)"]
H4C15	0	[]	36	["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","SUMOylation of chromatin organization proteins","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]	0	[]

H4C3 (H4 clustered histone 3)

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