H4C15

H4 clustered histone 15

Gene Information Card

Symbol H4C15
Full Name H4 clustered histone 15
Gene Type protein-coding
Chromosomal Location 6p22.2
NCBI Gene ID 8362 ncbi.nlm.nih.gov/gene/8362
Ensembl ID ENSG00000276903
UniProt ID P62805
OMIM ID 602831
HGNC ID 4794
Aliases H4/j, H4FJ, HIST1H4J

Description

H4C15 is a member of the histone H4 family, which encodes a core histone protein that forms the nucleosome structure. Histone H4 is essential for chromatin packaging and regulation of gene expression through post-translational modifications. H4C15 is one of several replication-dependent histone genes clustered on chromosome 6p22.2.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Altered histone H4 expression and post-translational modifications (e.g., acetylation, methylation) can disrupt chromatin structure and gene regulation, contributing to oncogenesis. COSMIC; ClinVar
Immunodeficiency Mutations in histone H4 genes have been linked to immune system dysfunction, though specific H4C15 variants are rare. ClinVar

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 120.5 High
Bone marrow 85.3 Medium
Lymph node 72.1 Medium
Brain 45.6 Low
Liver 38.2 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 150.2 Cervical cancer cell line
K562 130.8 Leukemia cell line
A549 95.4 Lung cancer cell line
HEK293 88.7 Embryonic kidney cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense 0.01% Potential loss of start codon, likely loss of function
c.100G>A (p.Gly34Arg) missense 0.005% Alters histone fold domain, may affect nucleosome stability
Mutation functional classification

Loss of Function (LOF)

Mutations affecting the start codon or critical residues in the histone fold domain are predicted to cause loss of function.

Gain of Function (GOF)

No known gain-of-function mutations for H4C15.

Dominant Negative (DN)

Mutations that disrupt nucleosome assembly without complete loss of protein may act in a dominant-negative manner.

Pathways

• Chromatin organization
• Epigenetic regulation of gene expression

Protein Summary

Histone H4 is a highly conserved core histone protein that, together with histone H3, H2A, and H2B, forms the nucleosome octamer. H4C15 encodes a replication-dependent histone H4 variant. Post-translational modifications of H4, such as acetylation at lysine residues, regulate chromatin accessibility and gene transcription. H4C15 is expressed in proliferating cells and is essential for proper cell cycle progression.

Related Products

Product name Cat.No. Species Gene ID
H4C15 Knockout HEK293 Cell Line EDJ-KQ13720 Human 554313 Details Get a Quote
H4C15 Knockout A-549 Cell Line EDJ-KQ43459 Human 554313 Details Get a Quote
H4C15 Knockout HeLa Cell Line EDJ-KQ43460 Human 554313 Details Get a Quote
H4C15 Knockout HCT 116 Cell Line EDJ-KQ77334 Human 554313 Details Get a Quote
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