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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	440093
Gene name	H3.5 histone
Gene symbol	H3-5
Synonyms (NCBI Gene)	H3.3CH3.5H3F3C
Chromosome	12
Chromosome location	12p11.21
Summary	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

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000786	Component	Nucleosome	IEA
GO:0000791	Component	Euchromatin	IDA	21274551
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005694	Component	Chromosome	IEA
GO:0030307	Process	Positive regulation of cell growth	IMP	21274551
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031492	Function	Nucleosomal DNA binding	IDA	21274551
GO:0046982	Function	Protein heterodimerization activity	IEA

MIM	HGNC	e!Ensembl
616134	33164	ENSG00000188375

Q6NXT2

Protein name

Histone H3.3C (Histone H3.5)

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

2PUY , 3KV4 , 4Z5T , 5BWN , 5BWO , 5F6K , 5I3L , 6OI3 , 7TRL , 7W67 , 7W6I , 7W6J , 7W6L , 7Y0I , 7ZEZ , 8Q1G , 8Q1H , 8Q1J , 8RBX , 8SR6 , 8T4F , 8T4R , 8ZXC , 9C0O , 9DZN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00125	Histone	1 → 131	Core histone H2A/H2B/H3/H4	Domain

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in the seminiferous tubules of testis. {ECO:0000269|PubMed:21274551}.

Sequence

MARTKQTARKSTGGKAPRKQLATKAARKSTPSTCGVKPHRYRPGTVALREIRRYQKSTEL
LIRKLPFQRLVREIAQDFNTDLRFQSAAVGALQEASEAYLVGLLEDTNLCAIHAKRVTIM
PKDIQLARRIRGERA

Sequence length

135

Interactions

View interactions

	KEGG
	Neutrophil extracellular trap formation Alcoholism Shigellosis Transcriptional misregulation in cancer Systemic lupus erythematosus

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 (1)

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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Obstructive azoospermia	Obstructive azoospermia	BEFREE	29179259		★★★★★ ★☆☆☆☆ Found in Text Mining only

H3-5 (H3.5 histone)