ZC3H14 Gene - Zinc Finger CCCH-Type Containing 14
ZC3H14: A poly(A)-binding protein involved in RNA processing and neuronal function
Gene Information Card
| Symbol | ZC3H14 |
|---|---|
| Full Name | zinc finger CCCH-type containing 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.13 |
| NCBI Gene ID | 79882 ncbi.nlm.nih.gov/gene/79882 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q6NZY4 |
| OMIM ID | 613279 |
| HGNC ID | 20509 |
| Aliases | MSUT-2, NY-REN-37, dJ402H5.2 |
Description
ZC3H14 encodes a zinc finger protein containing CCCH-type domains. The protein binds poly(A) RNA and is involved in nuclear RNA processing, polyadenylation, and mRNA export. It is highly expressed in the brain and mutations are associated with autosomal recessive intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 56 | Loss of function mutations in ZC3H14 impair RNA poly(A) binding and nuclear RNA processing, leading to neuronal dysfunction | PMID: 21983783, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Medium |
| Thyroid | 6.1 | Low |
| Lung | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 10.1 | Neuronal cell line |
| HeLa | 5.6 | Cervical carcinoma |
| HEK293 | 4.8 | Embryonic kidney |
| K562 | 3.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.950_951delAG | Frameshift | Rare | Loss of function |
| c.112C>T (p.Arg38*) | Nonsense | Rare | Loss of function |
| c.1366C>T (p.Arg456*) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking functional CCCH domains, impairing RNA binding.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleus (GO:0005634) |
| • mRNA processing (GO:0006397) | • RNA export from nucleus (GO:0006405) |
| • zinc ion binding (GO:0008270) | • cadherin binding (GO:0045296) |
Pathways
• RNA transport (Reactome R-HSA-73886)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome R-HSA-72203)
Protein Summary
ZC3H14 is a 777-amino acid protein containing five CCCH-type zinc finger domains. It localizes to the nucleus and binds poly(A) tails of mRNAs, regulating their processing and export. The protein is essential for normal neuronal development and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZC3H14 Knockout HEK293 Cell Line | EDJ-KQ16195 | Human | 79882 | Details Get a Quote |
| ZC3H14 Knockout HCT 116 Cell Line | EDJ-KQ46203 | Human | 79882 | Details Get a Quote |
| ZC3H14 Knockout A-549 Cell Line | EDJ-KQ47435 | Human | 79882 | Details Get a Quote |
| ZC3H14 Knockout HeLa Cell Line | EDJ-KQ47436 | Human | 79882 | Details Get a Quote |
