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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8334
Gene name	H2A clustered histone 6
Gene symbol	H2AC6
Synonyms (NCBI Gene)	H2A/lH2AFLHIST1H2ACdJ221C16.4
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 (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000786	Component	Nucleosome	IBA
GO:0000786	Component	Nucleosome	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16319397, 16457589
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
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:0046982	Function	Protein heterodimerization activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
602794	4733	ENSG00000180573

Q93077

Protein name

Histone H2A type 1-C (H2A-clustered histone 6) (Histone H2A/l)

Protein function

Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair,

PDB

6C0W , 6MUO , 6MUP , 6UPK , 6UPL , 7A08 , 7PII , 7R5R , 7U46 , 7U47 , 7U4D , 7Y8R , 7YWX , 7YYH , 8OO7 , 8OOA , 8OOP , 8OOS , 8OX0 , 8OX1 , 8X15 , 8X19 , 8X1C , 9EOZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00125	Histone	2 → 91	Core histone H2A/H2B/H3/H4	Domain
PF16211	Histone_H2A_C	92 → 126	C-terminus of histone H2A	Family

Sequence

MSGRGKQGGKARAKAKSRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLT
AEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGRVTIAQGGVLPNIQAVLLPKK
TESHHKAKGK

Sequence length

130

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Necroptosis Neutrophil extracellular trap formation Alcoholism 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 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)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	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.
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY-CATAPLEXY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	21768215, 23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28500252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34565095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	21768215, 23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28500252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	28500252	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	28178938	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASCAT_DG	25986216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASDB_DG	21926974		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★★★★★ ★☆☆☆☆ Found in Text Mining only

H2AC6 (H2A clustered histone 6)