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Gene Gene information from NCBI Gene database.
Entrez ID 8342
Gene name H2B clustered histone 14
Gene symbol H2BC14
Synonyms (NCBI Gene)
H2B/eH2BFEHIST1H2BMdJ160A22.3
Chromosome 6
Chromosome location 6p22.1
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 IEA
GO:0000786 Component Nucleosome NAS 9439656
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding NAS 9439656
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
602802 4750 ENSG00000273703
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99879
Protein name Histone H2B type 1-M (Histone H2B.e) (H2B/e)
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,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00125 Histone 3 → 102 Core histone H2A/H2B/H3/H4 Domain
Sequence
Sequence length 126
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.).
2
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
ESOPHAGEAL SQUAMOUS CELL CARCINOMA — CTD 21517111
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME — GWAS catalog 38102678
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 20543960 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous cell carcinoma of esophagus Esophagus Neoplasm CTD_human_DG 21517111
★★★★★
★☆☆☆☆
Found in Text Mining only