Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core hi
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Histone H2B type 1-D (H2B-clustered histone 5) (HIRA-interacting protein 2) (Histone H2B.1 B) (Histone H2B.b) (H2B/b)
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,
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.
["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]
["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]
["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]
["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]
["Neutrophil extracellular trap formation","Alcoholism","Viral carcinogenesis","Systemic lupus erythematosus","Ub-specific processing proteases","Condensation of Prophase Chromosomes","Deposition of new CENPA-containing nucleosomes at the centromere","HCMV Late Events","Oxidative Stress Induced Senescence","Amyloid fiber formation","DNA Damage\/Telomere Stress Induced Senescence","Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to H2BC5 (see Related Genes above), that are NOT already directly curated for H2BC5 itself -- a lead worth checking, not a confirmed association.