CDC14A: Cell Division Cycle 14A Phosphatase
A dual-specificity phosphatase involved in cell cycle regulation and ciliogenesis
Gene Information Card
| Symbol | CDC14A |
|---|---|
| Full Name | Cell Division Cycle 14A |
| Gene Type | Protein coding |
| Chromosomal Location | 1p21.2 |
| NCBI Gene ID | 8556 ncbi.nlm.nih.gov/gene/8556 |
| Ensembl ID | ENSG00000143476 |
| UniProt ID | Q9UNH5 |
| OMIM ID | 603504 |
| HGNC ID | 1718 |
| Aliases | CDC14, CDC14A1, CDC14A2, Cdc14a |
Description
CDC14A encodes a dual-specificity phosphatase that dephosphorylates phosphoserine/phosphothreonine and phosphotyrosine residues. It plays a critical role in cell cycle progression, particularly in mitotic exit and cytokinesis, and is also involved in ciliogenesis and centrosome duplication. Mutations in CDC14A are associated with autosomal recessive nonsyndromic hearing loss and microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB105) | Loss-of-function mutations disrupt ciliary function in inner ear hair cells | ClinVar, OMIM |
| Microcephaly with or without hearing loss | Impaired centrosome duplication and cell cycle progression | OMIM, PubMed |
| Primary microcephaly | Defective neurogenesis due to CDC14A deficiency | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 7.1 | Low |
| Lung | 6.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.8 | Moderate expression |
| K562 | 8.5 | Moderate expression |
| HepG2 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon, likely loss of function |
| c.337C>T (p.Arg113*) | Nonsense | Rare | Premature stop, loss of function |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Impaired phosphatase activity |
| c.1234_1235del (p.Leu412Glufs*5) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to reduced phosphatase activity or protein truncation, associated with hearing loss and microcephaly.
Gain of Function (GOF)
No gain-of-function mutations reported in CDC14A.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell cycle - Homo sapiens (hsa04110)
• Cilium assembly (Reactome: R-HSA-5620912)
Protein Summary
CDC14A is a 551-amino acid dual-specificity phosphatase that localizes to the centrosome and nucleus. It dephosphorylates key cell cycle regulators such as CDK substrates, promoting mitotic exit and cytokinesis. Additionally, it regulates ciliogenesis by controlling centrosome duplication and microtubule organization. The protein contains a conserved N-terminal catalytic domain and a C-terminal regulatory region.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDC14A Knockout HEK293 Cell Line | EDJ-KQ6285 | Human | 8556 | Details Get a Quote |
| CDC14A Knockout A-549 Cell Line | EDJ-KQ30186 | Human | 8556 | Details Get a Quote |
| CDC14A Knockout HCT 116 Cell Line | EDJ-KQ30187 | Human | 8556 | Details Get a Quote |
| CDC14A Knockout HeLa Cell Line | EDJ-KQ30188 | Human | 8556 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
