Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	8331
Gene name	H2A clustered histone 14
Gene symbol	H2AC14
Synonyms (NCBI Gene)	H2A/EH2AFEHIST1H2AJdJ160A22.4
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

MIM	HGNC	e!Ensembl
602791	4727	ENSG00000276368

Q99878

Protein name

Histone H2A type 1-J (Histone H2A/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,

PDB

8OL1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00125	Histone	2 → 91	Core histone H2A/H2B/H3/H4	Domain
PF16211	Histone_H2A_C	92 → 126	C-terminus of histone H2A	Family

Sequence

MSGRGKQGGKARAKAKTRSSRAGLQFPVGRVHRLLRKGNYAERVGAGAPVYLAAVLEYLT
AEILELAGNAARDNKKTRIIPRHLQLAIRNDEELNKLLGKVTIAQGGVLPNIQAVLLPKK
TESHHKTK

Sequence length

128

Interactions

View interactions

KEGG Pathway	Reactome Pathway
ATP-dependent chromatin remodeling	Recognition and association of DNA glycosylase with site containing an affected purine
Necroptosis	Cleavage of the damaged purine
Neutrophil extracellular trap formation	Packaging Of Telomere Ends
Alcoholism	Formation of the beta-catenin:TCF transactivating complex
Systemic lupus erythematosus	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
	RMTs methylate histone arginines
	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
	UCH proteinases
	Ub-specific processing proteases
	Metalloprotease DUBs
	Deposition of new CENPA-containing nucleosomes at the centromere
	RNA Polymerase I Promoter Opening
	RNA Polymerase I Promoter Escape
	RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
	Estrogen-dependent gene expression
	HCMV Early Events
	HCMV Late Events
	Amyloid fiber formation

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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 (6)
BIPOLAR DISORDER	—	GWAS catalog	38154582	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	31488892	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	31488892	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	36869385	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	30285260	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	38154582	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	11716530, 18489063	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	11716530, 18489063	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26252638	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Names
H2AC8	[]	33	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","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"]	[]
H2AC7	[]	33	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","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"]	[]
H2AC19	[]	33	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","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"]	[]
H2AC6	[]	33	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","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"]	[]
H2AC4	[]	33	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","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"]	[]

H2AC14 (H2A clustered histone 14)

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