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.
View complete mutation data:
Gene Ontology (GO)
| • mRNA methylation (GO:0080009) | • RNA binding (GO:0003723) |
| • zinc ion binding (GO:0008270) | • nucleus (GO:0005634) |
| • m6A methyltransferase complex (GO:0036396) |
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 Services
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 |