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Gene Gene information from NCBI Gene database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16 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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602794 4733 ENSG00000180573
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 130
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
ATP-dependent chromatin remodeling Recognition and association of DNA glycosylase with site containing an affected purine
Necroptosis Cleavage of the damaged purine
Neutrophil extracellular trap formation Packaging Of Telomere Ends
Alcoholism Formation of the beta-catenin:TCF transactivating complex
Systemic lupus erythematosus 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 Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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 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 (10)
Phenotype Name Clinical Significance Source Reference Evidence Score
GASTROESOPHAGEAL REFLUX DISEASE — GWAS catalog 38102678
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog 35835914
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA — GWAS catalog 28604730
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NARCOLEPSY-CATAPLEXY SYNDROME — GWAS catalog 25986216
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (11)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
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