ZC3H11C Gene - Zinc Finger CCCH-Type Containing 11C
A comprehensive biomedical resource on ZC3H11C, including genomic data, expression profiles, and disease associations.
Gene Information Card
| Symbol | ZC3H11C |
|---|---|
| Full Name | zinc finger CCCH-type containing 11C |
| Gene Type | protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 51503 ncbi.nlm.nih.gov/gene/51503 |
| Ensembl ID | ENSG00000143110 |
| UniProt ID | Q9H2U2 |
| OMIM ID | 617055 |
| HGNC ID | 28962 |
| Aliases | FLJ12770, MGC138373 |
Description
ZC3H11C encodes a protein containing CCCH-type zinc finger domains, which are often involved in RNA binding and post-transcriptional regulation. The gene is located on chromosome 1q41 and is expressed in various tissues. Its exact biological function is not fully characterized, but it may play a role in mRNA processing or stability. Mutations and altered expression have been implicated in certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential role in tumorigenesis via RNA regulation | COSMIC: somatic mutations in some cancer samples; expression changes in tumor tissues |
| Neurodevelopmental disorders | Possible loss-of-function variants affecting RNA metabolism | ClinVar: rare variants reported in patients with intellectual disability (limited evidence) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.5 | Low |
| Adrenal gland | 7.2 | Low |
| Brain (cerebellum) | 6.1 | Low |
| Liver | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | Highest among cell lines |
| HeLa (cervical cancer) | 10.8 | Moderate |
| A549 (lung cancer) | 8.9 | Moderate |
| HepG2 (liver cancer) | 6.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by in silico tools |
| c.567delC (p.Leu190TrpfsTer5) | Frameshift | Rare (COSMIC) | Loss of function; may affect protein stability |
| c.890C>T (p.Pro297Leu) | Missense | 0.02% (gnomAD) | Unknown; possibly damaging (PolyPhen-2) |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations leading to truncated protein or nonsense-mediated decay, potentially reducing functional ZC3H11C levels.
Gain of Function (GOF)
No evidence for gain-of-function mutations; current data suggest loss-of-function or neutral effects.
Dominant Negative (DN)
No evidence for dominant-negative effects; ZC3H11C is not known to form dimers.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • Zinc ion binding (GO:0008270) |
| • Nucleus (GO:0005634) | • Cytoplasm (GO:0005737) |
Pathways
• No specific pathways curated in Reactome or KEGG for ZC3H11C; may be involved in mRNA surveillance or processing.
Protein Summary
The ZC3H11C protein (UniProt Q9H2U2) is 548 amino acids long and contains two CCCH-type zinc finger domains. It is predicted to localize to the nucleus and cytoplasm, suggesting a role in RNA metabolism. Structural predictions indicate an intrinsically disordered region, which may facilitate protein-protein interactions. No enzymatic activity has been assigned.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZC3H11C Knockout HEK293 Cell Line | EDJ-KQ16192 | Human | 441155 | Details Get a Quote |
| ZC3H11C Knockout A-549 Cell Line | EDJ-KQ46198 | Human | 441155 | Details Get a Quote |
| ZC3H11C Knockout HCT 116 Cell Line | EDJ-KQ47431 | Human | 441155 | Details Get a Quote |
| ZC3H11C Knockout HeLa Cell Line | EDJ-KQ47432 | Human | 441155 | Details Get a Quote |
