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Gene Gene information from NCBI Gene database.
Entrez ID 8347
Gene name H2B clustered histone 4
Gene symbol H2BC4
Synonyms (NCBI Gene)
H2B.1H2B/lH2BC10H2BC6H2BC7H2BC8H2BFLHIST1H2BCdJ221C16.3
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.
23 Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0000786 Component Nucleosome IEA
GO:0000786 Component Nucleosome NAS 422550, 9119399
GO:0002227 Process Innate immune response in mucosa IDA 12860195
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding NAS 422550, 9119399
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602847 4757 ENSG00000180596
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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
  HATs acetylate histones
  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
  Ub-specific processing proteases
  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
  E3 ubiquitin ligases ubiquitinate target proteins
  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.).
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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 (24)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35589863
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 28540026
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 34159505
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD 17659439
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (29)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis GWASDB_DG 20062062
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 26113056
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 23263486
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 17659439
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26113056
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37446311 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis GWASCAT_DG 30664745
★★★★★
★☆☆☆☆
Found in Text Mining only
Gout Gout GWASDB_DG 23263486
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations