H2BC4 (H2B clustered histone 4)

Gene

• Entrez ID: 8347
• Gene name: H2B clustered histone 4
• Gene symbol: H2BC4
• Synonyms (NCBI Gene): H2B.1, H2B/l, H2BC10, H2BC6, H2BC7, H2BC8, H2BFL, HIST1H2BC, dJ221C16.3
• 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)

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
GO:0005515	Function	Protein binding	IPI	25416956, 27462807, 32296183, 35390161
GO:0005615	Component	Extracellular space	IDA	12860195
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006334	Process	Nucleosome assembly	NAS	422550, 9119399
GO:0019731	Process	Antibacterial humoral response	IDA	12860195
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042802	Function	Identical protein binding	IPI	25954010
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0050830	Process	Defense response to Gram-positive bacterium	IDA	12860195
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	12860195
GO:0070062	Component	Extracellular exosome	HDA	20458337

Other IDs

• MIM: 602847
• HGNC: 4757
• e!Ensembl: ENSG00000180596

Interactions View interactions

Pathways

KEGG:

Neutrophil extracellular trap formation
Alcoholism
Viral carcinogenesis
Systemic lupus erythematosus

Reactome:

Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Packaging Of Telomere Ends
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

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA VERA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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
Hepatitis B	Hepatitis b	Pubtator	39237981	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29184082		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26113056		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	19208208		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26113056		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	33506054	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30664745		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	19208208		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26856686	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	23904455	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations