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

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8334
Gene name Gene Name - the full gene name approved by the HGNC.	H2A clustered histone 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	H2AC6
Synonyms (NCBI Gene) Gene synonyms aliases	H2A/l, H2AFL, HIST1H2AC, dJ221C16.4
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p22.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Insomnia	Insomnia	N/A	N/A	GWAS
Neurodevelopmental Disorders	neurodevelopmental disorder	N/A	N/A	GenCC
Psoriasis	Psoriasis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cardiomyopathy Dilated	Associate	28500252
Coronary Artery Disease	Associate	34565095
Heart Failure	Associate	28500252
Hypertrophy Left Ventricular	Associate	28500252
Metabolic Syndrome	Associate	28178938

H2AC6 (H2A clustered histone 6)