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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CEP78
centrosomal protein 78
Chromosome 9 Β· 9q21.2
NCBI Gene: 84131Ensembl: ENSG00000148019.14HGNC: HGNC:25740UniProt: A0A2R8YCP0
70PubMed Papers
21Diseases
0Drugs
69Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
flagellated sperm motilitynegative regulation of protein ubiquitinationcilium organizationcentrosomecone-rod dystrophy and hearing lossCone rod dystrophyRetinal dystrophycone-rod dystrophy
✦AI Summary

CEP78 (centrosomal protein 78) is a centriole wall protein that localizes to mature centrioles and serves as a critical regulator of centriole and cilia biogenesis 12. CEP78 functions downstream of CEP350 to control primary cilia formation by negatively regulating CP110 levels through its interaction with the EDD1-DYRK2-DDB1VPRBP E3 ubiquitin ligase complex 34. The protein prevents ubiquitination and degradation of centrosomal proteins including CCP110 and tektin proteins (TEKT1-5) 43. CEP78 regulates centriole elongation and controls cilium length by interacting with intraflagellar transport proteins IFT20 and TTC21A 5. Pathogenic CEP78 mutations cause cone-rod dystrophy with hearing loss (CRDHH), characterized by retinal photoreceptor dysfunction and sensorineural hearing impairment 67. CEP78 deficiency also causes male infertility with multiple morphological abnormalities of sperm flagella (MMAF), including disrupted 9+2 microtubule structures and abnormal flagellar morphology 85. Loss of CEP78 leads to abnormal centriole elongation, cilia shortening, disrupted photoreceptor outer segment organization, and impaired sperm motility 5. These multi-system manifestations underscore CEP78's essential role in maintaining ciliary and centrosomal integrity across diverse tissues.

Sources cited
1
CEP78 localizes to mature centrioles and regulates centriole biogenesis and centrosome duplication
PMID: 27246242
2
CEP78 is involved in cilium biogenesis and controls cilium length
PMID: 27588451
3
CEP78 interacts with EDD-DYRK2-DDB1VprBP complex and prevents ubiquitination of CP110 and centrosomal proteins
PMID: 28242748
4
CEP78 functions downstream of CEP350 to negatively regulate CP110 levels via EDD1-dependent mechanism
PMID: 34259627
5
CEP78 absence causes photoreceptor impairment, sperm flagella abnormalities, and disrupted cilia elongation; interacts with IFT20 and TTC21A
PMID: 36756949
6
CEP78 mutations cause severe male infertility with MMAF and impair retinal and cochlear function; regulates USP16-mediated tektin stabilization
PMID: 36206347
7
CEP78 variants cause cone-rod dystrophy with sensorineural hearing loss, classified as atypical Usher syndrome
PMID: 35240912
8
CEP78 pathogenic variants present as cone-rod dystrophy with or without early-onset hearing loss
PMID: 38780195
Disease Associationsβ“˜21
cone-rod dystrophy and hearing lossOpen Targets
0.78Strong
Cone rod dystrophyOpen Targets
0.73Strong
Retinal dystrophyOpen Targets
0.53Moderate
cone-rod dystrophyOpen Targets
0.48Moderate
sensorineural hearing lossOpen Targets
0.42Moderate
Sensorineural hearing impairmentOpen Targets
0.42Moderate
Usher syndrome type 3Open Targets
0.37Weak
Cerebral degenerationOpen Targets
0.32Weak
central nervous system cancerOpen Targets
0.30Weak
Moyamoya diseaseOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
retinitis pigmentosaOpen Targets
0.12Weak
optic atrophyOpen Targets
0.11Weak
azoospermiaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
male infertilityOpen Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
Cone-rod dystrophy and hearing loss 1UniProt
Pathogenic Variants69
NM_001330691.3(CEP78):c.76C>T (p.Gln26Ter)Pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 26
NM_001330691.3(CEP78):c.966G>A (p.Trp322Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 322
NM_001330691.3(CEP78):c.449T>C (p.Leu150Ser)Pathogenic
Cone-rod dystrophy and hearing loss 1|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 150
NM_001330691.3(CEP78):c.1009C>T (p.Gln337Ter)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 1
β˜…β˜…β˜†β˜†2025β†’ Residue 337
NM_001330691.3(CEP78):c.1205+2T>APathogenic
not provided|Cone-rod dystrophy and hearing loss 1
β˜…β˜…β˜†β˜†2025
NM_001330691.3(CEP78):c.1251+5G>APathogenic
Cone-rod dystrophy and hearing loss 1|not provided|Familial pancreatic carcinoma
β˜…β˜…β˜†β˜†2024
NM_001330691.3(CEP78):c.323T>G (p.Leu108Trp)Likely pathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 108
NM_001330691.3(CEP78):c.254-1G>TPathogenic
Retinal dystrophy|not provided
β˜…β˜…β˜†β˜†2024
NM_001330691.3(CEP78):c.1424del (p.Val475fs)Pathogenic
not provided|Cone-rod dystrophy|Cone-rod dystrophy and hearing loss 1
β˜…β˜…β˜†β˜†2024β†’ Residue 475
NM_001330691.3(CEP78):c.1454del (p.Ser485fs)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 1
β˜…β˜…β˜†β˜†2024β†’ Residue 485
NM_001330691.3(CEP78):c.1698_1701del (p.Ser567fs)Pathogenic
not provided|Cone-rod dystrophy and hearing loss 1
β˜…β˜…β˜†β˜†2023β†’ Residue 567
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter)Pathogenic
Cone-rod dystrophy and hearing loss 1|not provided|Cone-rod dystrophy and hearing loss
β˜…β˜…β˜†β˜†2023β†’ Residue 483
NM_001330691.3(CEP78):c.778+1G>ALikely pathogenic
not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2022
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs)Pathogenic
Cone-rod dystrophy|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 467
NM_001330691.3(CEP78):c.440C>A (p.Ser147Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 147
NM_001330691.3(CEP78):c.440C>T (p.Ser147Leu)Likely pathogenic
not provided|Cone-rod dystrophy and hearing loss 1
β˜…β˜†β˜†β˜†2025β†’ Residue 147
NM_001330691.3(CEP78):c.534del (p.Lys179fs)Pathogenic
Cone-rod dystrophy and hearing loss 1|Cone-rod dystrophy;Sensorineural hearing loss disorder|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 179
NM_001330691.3(CEP78):c.1206-2A>CPathogenic
not provided|Cone-rod dystrophy and hearing loss 1
β˜…β˜†β˜†β˜†2025
NM_001330691.3(CEP78):c.283dup (p.Arg95fs)Pathogenic
not provided|Retinal dystrophy
β˜…β˜†β˜†β˜†2025β†’ Residue 95
NM_001330691.3(CEP78):c.1723_1726dup (p.Glu576fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 576
View on ClinVar β†—
Related Genes
CEP250Protein interaction82%PSAT1Protein interaction75%DCAF1Protein interaction75%ROPN1Shared pathway50%CFAP126Shared pathway40%FSIP2Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
47%
Ovary
29%
Liver
20%
Lung
15%
Heart
13%
Gene Interaction Network
Click a node to explore
CEP78CEP250PSAT1DCAF1ROPN1CFAP126FSIP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5JTW2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.53LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.19 [0.94–1.53]
RankingsWhere CEP78 stands among ~20K protein-coding genes
  • #6,702of 20,598
    Most Researched70
  • #1,056of 5,498
    Most Pathogenic Variants69 Β· top quartile
  • #15,353of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedCEP78
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.
PMID: 36756949
Elife Β· 2023
1.00
2
Loss-of-function mutations in
PMID: 36206347
Sci Adv Β· 2022
0.90
3
A novel frameshift variant in
PMID: 35240912
Ophthalmic Genet Β· 2022
0.80
4
Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis.
PMID: 30884127
Asia Pac J Clin Oncol Β· 2019
0.70
5
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
PMID: 34259627
Elife Β· 2021
0.60