ZC3H13 Gene - Zinc Finger CCCH-Type Containing 13

ZC3H13: A key regulator of m6A RNA methylation and gene expression

Gene Information Card

Symbol ZC3H13
Full Name zinc finger CCCH-type containing 13
Gene Type protein-coding
Chromosomal Location 13q14.13
NCBI Gene ID 23091 ncbi.nlm.nih.gov/gene/23091
Ensembl ID ENSG00000102468
UniProt ID Q5T200
OMIM ID 616453
HGNC ID 28997
Aliases KIAA0853, ZC3H13A, ZC3H13B, FLJ12688

Description

ZC3H13 (zinc finger CCCH-type containing 13) encodes a protein that contains CCCH-type zinc finger domains and is a component of the m6A methyltransferase complex (MTC). It plays a critical role in N6-methyladenosine (m6A) RNA methylation, influencing RNA splicing, stability, and translation. The protein is involved in post-transcriptional gene regulation and has been implicated in various cancers and developmental processes.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) ZC3H13 mutations may alter m6A methylation patterns, affecting oncogene/tumor suppressor expression COSMIC, ClinVar
Intellectual disability ZC3H13 variants have been associated with neurodevelopmental disorders ClinVar, OMIM
Hepatocellular carcinoma ZC3H13 downregulation correlates with poor prognosis and altered m6A signaling PubMed studies

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 15.2 Medium
Brain 10.5 Medium
Liver 8.3 Medium
Kidney 7.1 Low
Lung 6.4 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 12.0 Embryonic kidney
HepG2 9.5 Hepatocellular carcinoma
K562 7.8 Leukemia
A549 6.2 Lung carcinoma
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <0.1% Loss of function, truncated protein
c.567G>A (p.Gly189Arg) Missense <0.1% Unknown, likely damaging
c.2345_2346insA Frameshift <0.1% Loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations in ZC3H13 lead to truncated or absent protein, impairing m6A methyltransferase complex assembly and RNA methylation.

Gain of Function (GOF)

No gain-of-function mutations have been reported for ZC3H13.

Dominant Negative (DN)

No dominant-negative mutations have been described for ZC3H13.

Pathways

• m6A methylation pathway
• RNA processing and modification

Protein Summary

ZC3H13 is a 1,145-amino acid protein containing multiple CCCH-type zinc finger domains. It localizes to the nucleus and is a core component of the m6A methyltransferase complex (MTC), which catalyzes N6-methyladenosine modification of RNA. The protein interacts with METTL3, METTL14, WTAP, and other MTC subunits to regulate RNA metabolism. Its expression is widespread, with highest levels in testis and brain.

Related Products

Product name Cat.No. Species Gene ID
ZC3H13 Knockout HEK293 Cell Line EDJ-KQ7822 Human 23091 Details Get a Quote
ZC3H13 Knockout A-549 Cell Line EDJ-KQ33353 Human 23091 Details Get a Quote
ZC3H13 Knockout HCT 116 Cell Line EDJ-KQ33354 Human 23091 Details Get a Quote
ZC3H13 Knockout HeLa Cell Line EDJ-KQ33355 Human 23091 Details Get a Quote
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