Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Other IDs Protein Pathways Associated diseases
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		Reactome
	ATP-dependent chromatin remodeling Necroptosis Neutrophil extracellular trap formation Alcoholism Systemic lupus erythematosus		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 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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

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

H2AC14 (H2A clustered histone 14)