CDC14A (cell division cycle 14A)

Gene

• Entrez ID: 8556
• Gene name: Cell division cycle 14A
• Gene symbol: CDC14A
• Synonyms (NCBI Gene): DFNB105, DFNB32, DFNB35, cdc14, hCDC14
• 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 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
rs771622183	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, 5 prime UTR variant
rs777112652	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs876661408	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1339709390	A>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1553191001	C>G	Pathogenic	Intron variant
rs1571346132	GC>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant

miRNA

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
MIRT876779	hsa-miR-214	CLIP-seq
MIRT876780	hsa-miR-3074-3p	CLIP-seq
MIRT876781	hsa-miR-361-5p	CLIP-seq
MIRT876782	hsa-miR-3619-5p	CLIP-seq
MIRT876783	hsa-miR-3659	CLIP-seq
MIRT876784	hsa-miR-4280	CLIP-seq
MIRT876785	hsa-miR-4427	CLIP-seq
MIRT876786	hsa-miR-4528	CLIP-seq
MIRT876787	hsa-miR-4658	CLIP-seq
MIRT876788	hsa-miR-4666-5p	CLIP-seq
MIRT876789	hsa-miR-4680-3p	CLIP-seq
MIRT876790	hsa-miR-4698	CLIP-seq
MIRT876791	hsa-miR-4758-5p	CLIP-seq
MIRT876792	hsa-miR-4799-5p	CLIP-seq
MIRT876793	hsa-miR-487a	CLIP-seq
MIRT876794	hsa-miR-495	CLIP-seq
MIRT876795	hsa-miR-548p	CLIP-seq
MIRT876796	hsa-miR-574-5p	CLIP-seq
MIRT876797	hsa-miR-664	CLIP-seq
MIRT876798	hsa-miR-761	CLIP-seq
MIRT876799	hsa-miR-27a	CLIP-seq
MIRT876800	hsa-miR-27b	CLIP-seq
MIRT876801	hsa-miR-513a-5p	CLIP-seq
MIRT876780	hsa-miR-3074-3p	CLIP-seq
MIRT876802	hsa-miR-338-5p	CLIP-seq
MIRT876803	hsa-miR-4699-3p	CLIP-seq
MIRT1920348	hsa-miR-3646	CLIP-seq
MIRT1920349	hsa-miR-376a	CLIP-seq
MIRT1920350	hsa-miR-376b	CLIP-seq
MIRT1920348	hsa-miR-3646	CLIP-seq
MIRT1920349	hsa-miR-376a	CLIP-seq
MIRT1920350	hsa-miR-376b	CLIP-seq
MIRT1920348	hsa-miR-3646	CLIP-seq
MIRT1920349	hsa-miR-376a	CLIP-seq
MIRT1920350	hsa-miR-376b	CLIP-seq
MIRT1922661	hsa-miR-340	CLIP-seq
MIRT1959805	hsa-miR-101	CLIP-seq
MIRT1959806	hsa-miR-1245b-3p	CLIP-seq
MIRT1959807	hsa-miR-1297	CLIP-seq
MIRT1959808	hsa-miR-1305	CLIP-seq
MIRT1959809	hsa-miR-144	CLIP-seq
MIRT1959810	hsa-miR-148a	CLIP-seq
MIRT1959811	hsa-miR-148b	CLIP-seq
MIRT1959812	hsa-miR-152	CLIP-seq
MIRT1959813	hsa-miR-198	CLIP-seq
MIRT1959814	hsa-miR-199a-3p	CLIP-seq
MIRT1959815	hsa-miR-199b-3p	CLIP-seq
MIRT1959816	hsa-miR-26a	CLIP-seq
MIRT1959817	hsa-miR-26b	CLIP-seq
MIRT1959818	hsa-miR-3129-5p	CLIP-seq
MIRT1959819	hsa-miR-3160-5p	CLIP-seq
MIRT1959820	hsa-miR-3185	CLIP-seq
MIRT1959821	hsa-miR-329	CLIP-seq
MIRT1959822	hsa-miR-362-3p	CLIP-seq
MIRT1920349	hsa-miR-376a	CLIP-seq
MIRT1920350	hsa-miR-376b	CLIP-seq
MIRT1959823	hsa-miR-3941	CLIP-seq
MIRT1959824	hsa-miR-3976	CLIP-seq
MIRT1959825	hsa-miR-4274	CLIP-seq
MIRT1959826	hsa-miR-4276	CLIP-seq
MIRT1959827	hsa-miR-4328	CLIP-seq
MIRT1959828	hsa-miR-4446-5p	CLIP-seq
MIRT1959829	hsa-miR-4465	CLIP-seq
MIRT1959830	hsa-miR-4473	CLIP-seq
MIRT1959831	hsa-miR-4635	CLIP-seq
MIRT1959832	hsa-miR-4652-3p	CLIP-seq
MIRT1959833	hsa-miR-4671-3p	CLIP-seq
MIRT1959834	hsa-miR-4694-5p	CLIP-seq
MIRT1959835	hsa-miR-4711-3p	CLIP-seq
MIRT1959836	hsa-miR-4755-5p	CLIP-seq
MIRT1959837	hsa-miR-4775	CLIP-seq
MIRT1959838	hsa-miR-4789-3p	CLIP-seq
MIRT1959839	hsa-miR-4789-5p	CLIP-seq
MIRT1959840	hsa-miR-493	CLIP-seq
MIRT1959841	hsa-miR-498	CLIP-seq
MIRT1959842	hsa-miR-512-3p	CLIP-seq
MIRT1959843	hsa-miR-520f	CLIP-seq
MIRT1959844	hsa-miR-548ac	CLIP-seq
MIRT1959845	hsa-miR-548d-3p	CLIP-seq
MIRT1959846	hsa-miR-548z	CLIP-seq
MIRT1959847	hsa-miR-582-5p	CLIP-seq
MIRT1959848	hsa-miR-592	CLIP-seq
MIRT1959849	hsa-miR-599	CLIP-seq
MIRT1959850	hsa-miR-603	CLIP-seq
MIRT1959851	hsa-miR-627	CLIP-seq
MIRT1959852	hsa-miR-642a	CLIP-seq

Gene ontology (GO)

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
GO:0004722	Function	Protein serine/threonine phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine phosphatase activity	TAS
GO:0004725	Function	Protein tyrosine phosphatase activity	IBA
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	16221885, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007096	Process	Regulation of exit from mitosis	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	29293958
GO:0016787	Function	Hydrolase activity	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032426	Component	Stereocilium tip	IEA
GO:0032426	Component	Stereocilium tip	ISS
GO:0032467	Process	Positive regulation of cytokinesis	IBA
GO:0042995	Component	Cell projection	IEA
GO:0051301	Process	Cell division	IEA
GO:0060091	Component	Kinocilium	IEA
GO:0060091	Component	Kinocilium	ISS
GO:0060271	Process	Cilium assembly	IBA
GO:0072686	Component	Mitotic spindle	IBA
GO:1902636	Component	Kinociliary basal body	IEA
GO:1902636	Component	Kinociliary basal body	ISS

Other IDs

• MIM: 603504
• HGNC: 1718
• e!Ensembl: ENSG00000079335

Protein

• UniProt ID: 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
  GSNPPYLPFRDASFGNCTYNLTILDCLQGIRKGLQHGFFDFETFDVDEYEHYERVENGDF
  NWIVPGKFLAFSGPHPKSKIENGYPLHAPEAYFPYFKKHNVTAVVRLNKKIYEAKRFTDA
  GFEHYDLFFIDGSTPSDNIVRRFLNICENTEGAIAVHCKAGLGRTGTLIACYVMKHYRFT
  HAEIIAWIRICRPGSIIGPQQHFLEEKQASLWVQGDIFRSKLKNRPSSEGSINKILSGLD
  DMSIGGNLSKTQNMERFGEDNLEDDDVEMKNGITQGDKLRALKSQRQPRTSPSCAFRSDD
  TKGHPRAVSQPFRLSSSLQGSAVTLKTSKMALSPSATAKRINRTSLSSGATVRSFSINSR
  LASSLGNLNAATDDPENKKTSSSSKAGFTASPFTNLLNGSSQPTTRNYPELNNNQYNRSS
  NSNGGNLNSPPGPHSAKTEEHTTILRPSYTGLSSSSARFLSRSIPSLQSEYVHY

• Sequence length: 594

Pathways

KEGG:

Cell cycle

Reactome:

Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase
MAPK6/MAPK4 signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CDC14A-related disorder	Likely pathogenic; Pathogenic	rs876661408	RCV004757174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ear malformation	Likely pathogenic; Pathogenic	rs876661408, rs549556142	RCV001836758 RCV001836860	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Likely pathogenic	rs1553191001	RCV006249384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic	rs765155697	RCV000826100	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Pathogenic	rs1571346132	RCV000852387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL EAR ANOMALY NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 32	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT AND INFERTILE MALE SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE REPRODUCTIVE ORGAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21607584		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	20413845, 21607584	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31698564	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20477815		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	29293958		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30467237, 32231217, 33187236	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness Autosomal Recessive 32	Deafness	Pubtator	31906439	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	29293958		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 32	Deafness	GENOMICS_ENGLAND_DG	27259055		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 32	Deafness	CTD_human_DG	27259055, 29293958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 32	Deafness	CLINVAR_DG	27259055, 29293958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 32	Deafness	UNIPROT_DG	27259055, 29293958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32041280	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	31906439, 32231217, 33187236	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	31906439	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	31906439, 32231217	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34981446	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21607584		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	20477815		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14678979, 20477815		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	12529709		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	12634867, 18179891		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	29293958		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	CTD_human_DG	29293958		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	27323075	Associate	★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	29293958		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only