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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CDC14A
cell division cycle 14A
Chromosome 1 Β· 1p21.2
NCBI Gene: 8556Ensembl: ENSG00000079335.21HGNC: HGNC:1718UniProt: A0A0U1RQX7
62PubMed Papers
21Diseases
0Drugs
20Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsensory perception of soundcentrosomenucleoplasmhearing loss, autosomal recessivedeafnessNon-syndromic genetic deafnesshearing impairment and infertile male syndrome
✦AI Summary

CDC14A encodes a dual-specificity phosphatase that plays essential roles in cell cycle regulation, ciliogenesis, hearing, and male fertility. The protein functions as a physiological regulator of centrosome duplication, where both overexpression and downregulation cause aberrant chromosome 1 and genomic instability 1. CDC14A modulates the G2/M transition by directly binding to and dephosphorylating Cdc25A and Cdc25B, preventing premature Cdk1 activation 2. The phosphatase also dephosphorylates Cdc25A at Ser115 and Ser320, affecting its protein levels 3. In vivo studies reveal CDC14A is absolutely required for hearing and male fertility, localizing to inner ear hair cell kinocilia, basal bodies, and stereocilia 4. Mutations cause progressive deafness through hair cell degeneration and male infertility due to seminiferous tubule degeneration and sperm defects 45. CDC14A knockout mice show impaired spermatogenesis with decreased sperm count, motility, and abnormal morphology, along with inhibited meiotic initiation 5. The protein also regulates ciliogenesis, as CDC14A knockout cells produce longer cilia compared to wild-type 6. Additionally, CDC14A interacts with Erk3 kinase, influencing signaling pathways that regulate cell fate decisions 7.

Sources cited
1
CDC14A regulates centrosome duplication and chromosome segregation
PMID: 11901424
2
CDC14A modulates G2/M transition through Cdc25A and Cdc25B dephosphorylation
PMID: 20956543
3
CDC14A dephosphorylates Cdc25A at specific serine residues
PMID: 17172867
4
CDC14A is essential for hearing and male fertility, localizes to hair cell structures
PMID: 29293958
5
CDC14A knockout causes male subfertility and impaired spermatogenesis
PMID: 32679235
6
CDC14A regulates ciliogenesis with knockout cells showing longer cilia
PMID: 33328327
7
CDC14A interacts with Erk3 kinase in cell fate signaling
PMID: 18235225
Disease Associationsβ“˜21
hearing loss, autosomal recessiveOpen Targets
0.66Moderate
deafnessOpen Targets
0.63Moderate
Non-syndromic genetic deafnessOpen Targets
0.39Weak
hearing impairment and infertile male syndromeOpen Targets
0.37Weak
nonsyndromic genetic hearing lossOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.36Weak
sensorineural hearing lossOpen Targets
0.34Weak
Sensorineural hearing impairmentOpen Targets
0.34Weak
Abnormality of the earOpen Targets
0.33Weak
ear malformationOpen Targets
0.33Weak
neuroinflammatory disorderOpen Targets
0.32Weak
Rare genetic deafnessOpen Targets
0.28Weak
coronary artery bypassOpen Targets
0.28Weak
male reproductive organ cancerOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.27Weak
cardiomyopathyOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.10Suggestive
Partial congenital cataractOpen Targets
0.10Suggestive
Deafness, autosomal recessive, 32, with or without immotile spermUniProt
Pathogenic Variants20
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly)Pathogenic
Autosomal recessive nonsyndromic hearing loss 32|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 312
NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 32|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 339
NM_003672.4(CDC14A):c.781C>T (p.Arg261Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 261
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 32|Ear malformation|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 345
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln)Pathogenic
Autosomal recessive nonsyndromic hearing loss 32|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 312
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 32|Ear malformation|CDC14A-related disorder
β˜…β˜…β˜†β˜†2021β†’ Residue 376
NM_003672.4(CDC14A):c.6dup (p.Ala3fs)Likely pathogenic
Monogenic hearing loss
β˜…β˜†β˜†β˜†2025β†’ Residue 3
NM_003672.4(CDC14A):c.839-3C>GLikely pathogenic
Autosomal recessive nonsyndromic hearing loss 32|Monogenic hearing loss
β˜…β˜†β˜†β˜†2025
NM_003672.4(CDC14A):c.1137+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003672.4(CDC14A):c.456+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003672.4(CDC14A):c.612T>A (p.Tyr204Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 204
NM_003672.4(CDC14A):c.581C>G (p.Pro194Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 194
NM_003672.4(CDC14A):c.907G>T (p.Glu303Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 303
NM_003672.4(CDC14A):c.375del (p.Tyr126fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 126
NM_003672.4(CDC14A):c.50-1G>TLikely pathogenic
Autosomal recessive nonsyndromic hearing loss 32
β˜…β˜†β˜†β˜†2020
NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs)Pathogenic
Sensorineural hearing loss disorder
β˜…β˜†β˜†β˜†2019β†’ Residue 451
NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 32
β˜…β˜†β˜†β˜†2018β†’ Residue 139
NM_003672.4(CDC14A):c.959A>C (p.Gln320Pro)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 32
β˜…β˜†β˜†β˜†2018β†’ Residue 320
NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter)Likely pathogenic
Rare genetic deafness
β˜…β˜†β˜†β˜†2018β†’ Residue 174
NM_003672.4(CDC14A):c.376del (p.Tyr126fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 32
β˜†β˜†β˜†β˜†2018β†’ Residue 126
View on ClinVar β†—
Related Genes
SIRT1Protein interaction99%PTTG1Protein interaction98%CDK1Protein interaction96%SIRT2Protein interaction96%ANAPC2Protein interaction94%CCNB1Protein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
23%
Ovary
14%
Heart
11%
Brain
11%
Liver
5%
Gene Interaction Network
Click a node to explore
CDC14ASIRT1PTTG1CDK1SIRT2ANAPC2CCNB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q59EF4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.82 [0.60–1.14]
RankingsWhere CDC14A stands among ~20K protein-coding genes
  • #7,435of 20,598
    Most Researched62
  • #2,196of 5,498
    Most Pathogenic Variants20
  • #11,849of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedCDC14A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human cells lacking CDC14A and CDC14B show differences in ciliogenesis but not in mitotic progression.
PMID: 33328327
J Cell Sci Β· 2021
1.00
2
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
PMID: 29293958
Hum Mol Genet Β· 2018
0.90
3
Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene.
PMID: 10409437
Genomics Β· 1999
0.80
4
Deregulated human Cdc14A phosphatase disrupts centrosome separation and chromosome segregation.
PMID: 11901424
Nat Cell Biol Β· 2002
0.70
5
Human Cdc14A reverses CDK1 phosphorylation of Cdc25A on serines 115 and 320.
PMID: 17172867
Cell Cycle Β· 2006
0.60