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.
Histone H2B type 1-K (H2B K) (HIRA-interacting protein 1)
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 H2BC12 (see Related Genes above), that are NOT already directly curated for H2BC12 itself -- a lead worth checking, not a confirmed association.