Gene Gene information from NCBI Gene database.
Entrez ID 8556
Gene name Cell division cycle 14A
Gene symbol CDC14A
Synonyms (NCBI Gene)
DFNB105DFNB32DFNB35cdc14hCDC14
Chromosome 1
Chromosome location 1p21.2
Summary The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA rep
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs148737918 C>G,T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs369245990 G>A,C Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs549556142 C>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained, non coding transcript variant
rs759201338 T>- Pathogenic Frameshift variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant, genic upstream transcript variant
rs765155697 C>T Likely-pathogenic Coding sequence variant, intron variant, stop gained, non coding transcript variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
91
miRTarBase ID miRNA Experiments Reference
MIRT000654 hsa-miR-424-5p Luciferase reporter assay 19956200
MIRT000652 hsa-miR-503-5p Luciferase reporter assay 19956200
MIRT024403 hsa-miR-215-5p Microarray 19074876
MIRT026880 hsa-miR-192-5p Microarray 19074876
MIRT039584 hsa-miR-628-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0000922 Component Spindle pole IBA
GO:0000922 Component Spindle pole IEA
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603504 1718 ENSG00000079335
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UNH5
Protein name Dual specificity protein phosphatase CDC14A (EC 3.1.3.16) (EC 3.1.3.48) (CDC14 cell division cycle 14 homolog A)
Protein function Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. Dephosphorylates SIRT2 around early anaphase. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent d
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14671 DSPn 13 153 Dual specificity protein phosphatase, N-terminal half Domain
PF00782 DSPc 207 328 Dual specificity phosphatase, catalytic domain Domain
Sequence
MAAESGELIGACEFMKDRLYFATLRNRPKSTVNTHYFSIDEELVYENFYADFGPLNLAMV
YRYCCKLNKKLKSYSLSRKKIVHYTCFDQRKRANAAFLIGAYAVIYLKKTPEEAYRALLS
GSNPPYLPFRDASFGNCTYNLTILDCLQGIRKG
LQHGFFDFETFDVDEYEHYERVENGDF
NWIVPGKFLAFSGPHPKSKIENGYPLHAPEAYFPYFKKHNVTAVVRLNKKIYEAKRFTDA
GFEHYDLFFIDGSTPSDNIVRRFLNICENTEGAIAVHCKAGLGRTGTLIACYVMKHYRFT
HAEIIAWIRICRPGSIIGPQQHFLEEKQ
ASLWVQGDIFRSKLKNRPSSEGSINKILSGLD
DMSIGGNLSKTQNMERFGEDNLEDDDVEMKNGITQGDKLRALKSQRQPRTSPSCAFRSDD
TKGHPRAVSQPFRLSSSLQGSAVTLKTSKMALSPSATAKRINRTSLSSGATVRSFSINSR
LASSLGNLNAATDDPENKKTSSSSKAGFTASPFTNLLNGSSQPTTRNYPELNNNQYNRSS
NSNGGNLNSPPGPHSAKTEEHTTILRPSYTGLSSSSARFLSRSIPSLQSEYVHY
Sequence length 594
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle   Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
MAPK6/MAPK4 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
67
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive nonsyndromic hearing loss 32 Likely pathogenic; Pathogenic rs2100872719, rs876661408, rs777112652, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs771622183, rs1339709390 RCV001728011
RCV000223951
RCV000223953
RCV000677135
RCV000677136
RCV000677137
RCV000677138
RCV000677139
RCV000790862
RCV000790861
CDC14A-related disorder Likely pathogenic; Pathogenic rs876661408 RCV004757174
Ear malformation Likely pathogenic; Pathogenic rs876661408, rs549556142 RCV001836758
RCV001836860
Monogenic hearing loss Likely pathogenic rs1553191001 RCV006249384
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs28361212 RCV005898780
Colon adenocarcinoma Benign rs28361212, rs61752469 RCV005898779
RCV005899947
Familial cancer of breast Conflicting classifications of pathogenicity rs112231082 RCV005919112
Gastric cancer Benign rs28361212 RCV005898785
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 20413845, 21607584
Carcinoma Hepatocellular Associate 31698564
Deafness Associate 30467237, 32231217, 33187236
Deafness Autosomal Recessive 32 Associate 31906439
Diabetes Mellitus Type 2 Associate 32041280
Hearing Loss Associate 31906439, 32231217, 33187236
Hearing Loss Sensorineural Associate 31906439
Infertility Male Associate 31906439, 32231217
Lung Neoplasms Associate 34981446
Neoplasms Associate 10644693, 27323075, 28465438, 9367992