CDC14C
protein-codingcell division cycle 14C
Gene summary
This gene represents a retrogene of cell division cycle 14B (CDC14B), which is located on chromosome 9. The introns in the coding sequence have been processed out relative to the CDC14B locus, but there is an intact open reading frame that is missing only some sequence at the N-terminus, including the nuclear localiztion signal, relative to proteins encoded by the CDC14B gene. There is a difference in the subcellular localization of the protein encoded by this gene, relative to its parental gene product. While the parental gene product displays microtubular localization, GFP chimeras of the protein encoded by this gene localize to the endoplasmic reticulum, indicating a possible new functional role for this gene. [provided by RefSeq, Nov 2017]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~2.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CDC14C variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_152627.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 1 | 0 | 1 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_689840.2 | 1 | MANE Select | |
| Ensembl | ENSP00000497792.1 | 1 | MANE Select |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- microtubule cytoskeleton organization
- mitotic cell cycle
- regulation of exit from mitosis
- positive regulation of cytokinesis
- peptidyl-tyrosine dephosphorylation
Molecular Function
- protein serine/threonine phosphatase activity
- protein tyrosine phosphatase activity
- protein tyrosine/serine/threonine phosphatase activity
Cellular Component
- spindle pole
- nucleolus
- cytoplasm
- endoplasmic reticulum membrane
- centrosome
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Dual-specificity phosphatase. Preferentially dephosphorylates proteins modified by proline-directed kinases (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0997