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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.
CEP164
centrosomal protein 164
Chromosome 11 Β· 11q23.3
NCBI Gene: 22897Ensembl: ENSG00000110274.17HGNC: HGNC:29182UniProt: Q9UPV0
62PubMed Papers
21Diseases
0Drugs
136Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cilium assemblyciliary transition fibercentrosomecentriolenephronophthisis 15Senior-Loken syndromeciliopathyRetinal dystrophy
✦AI Summary

CEP164 (centrosomal protein 164) is a distal appendage protein of the mother centriole that plays a critical role in primary ciliogenesis and genomic stability. CEP164 functions as a scaffold protein at the centriole's distal appendages, where it interacts with TTBK2 through phase separation to recruit intraflagellar transport (IFT) machinery components essential for cilium initiation 12. CEP164 homodimerization via its central coiled-coil region is necessary for proper mother centriole localization and subsequent ciliogenesis 2. The protein operates within a hierarchical assembly pathway of distal appendage proteins, functioning alongside CEP83-SCLT1 as a critical module 3. CEP164 is widely expressed during embryonic and fetal development across multiple organ systems including kidneys, retina, and cerebellum, supporting its multi-system role 4. Mutations in CEP164 cause nephronophthisis-related ciliopathies and have been associated with Bardet-Biedl syndrome, primary congenital glaucoma, and atypical motile ciliopathy phenotypes 567. CEP164 interacts functionally with other ciliary proteins including INPP5E and CYP1B1, with co-inheritance of pathogenic variants associated with poorer clinical outcomes 78.

Sources cited
1
CEP164 undergoes phase separation with TTBK2 through multivalent electrostatic interactions to facilitate recruitment of TTBK2 to distal appendages for ciliogenesis
PMID: 40483689
2
CEP164 homodimerization is necessary for mother centriole localization and IFT machinery recruitment; CEP164-TTBK2 interaction is required for CP110 removal
PMID: 40305080
3
CEP164-TTBK2 module functions as critical component in hierarchical distal appendage assembly; deletion severely compromises all four steps of cilium formation
PMID: 39882846
4
CEP164 is widely expressed in embryonic and fetal kidneys, retina, and cerebellum; mutations cause nephronophthisis-related ciliopathies
PMID: 31990917
5
CEP164-related Bardet-Biedl syndrome represents novel ciliopathy association
PMID: 32055034
6
Biallelic CEP164 variants cause both primary and motile ciliopathy phenotypes
PMID: 36273371
7
CEP164 pathogenic variants identified in primary congenital glaucoma cohort; co-inheritance with other gene variants associated with poor prognosis
PMID: 39337513
8
CEP164 interacts with INPP5E through CLS2-CLS3 regions to regulate ciliary protein targeting
PMID: 36063381
Disease Associationsβ“˜21
nephronophthisis 15Open Targets
0.76Strong
Senior-Loken syndromeOpen Targets
0.69Moderate
ciliopathyOpen Targets
0.51Moderate
Retinal dystrophyOpen Targets
0.43Moderate
nephronophthisisOpen Targets
0.40Weak
CEP164-related ciliopathyOpen Targets
0.37Weak
familial lipoprotein lipase deficiencyOpen Targets
0.30Weak
inborn disorder of amino acid metabolismOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
frozen shoulderOpen Targets
0.08Suggestive
glomerulonephritisOpen Targets
0.07Suggestive
smoking initiationOpen Targets
0.06Suggestive
tuberculosisOpen Targets
0.05Suggestive
metabolic diseaseOpen Targets
0.03Suggestive
hyperlipidemiaOpen Targets
0.03Suggestive
HypercholesterolemiaOpen Targets
0.03Suggestive
rhabdomyosarcomaOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
Joubert syndromeOpen Targets
0.01Suggestive
Nephronophthisis 15UniProt
Pathogenic Variants136
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)Pathogenic
Nephronophthisis 15|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1247
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 897
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs)Pathogenic
Nephronophthisis 15|CEP164-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 846
NM_014956.5(CEP164):c.2110del (p.Glu704fs)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 704
NM_014956.5(CEP164):c.1233+1G>ALikely pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 151
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 557
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 837
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 93
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 576
NM_014956.5(CEP164):c.687+1G>ALikely pathogenic
Nephronophthisis 15|Renal dysplasia and retinal aplasia;Nephronophthisis 15
β˜…β˜…β˜†β˜†2025
NM_014956.5(CEP164):c.1724+1G>ALikely pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 250
NM_014956.5(CEP164):c.4006_4025del (p.Trp1336fs)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 1336
NM_014956.5(CEP164):c.2362-1G>TLikely pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025
NM_014956.5(CEP164):c.3055C>T (p.Gln1019Ter)Pathogenic
Nephronophthisis 15|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1019
NM_014956.5(CEP164):c.1481dup (p.Pro495fs)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2025β†’ Residue 495
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)Pathogenic
Nephronophthisis 15
β˜…β˜…β˜†β˜†2024β†’ Residue 737
NM_014956.5(CEP164):c.381dup (p.Lys128fs)Pathogenic
Nephronophthisis 15|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2024β†’ Residue 128
NM_014956.5(CEP164):c.2608G>T (p.Glu870Ter)Pathogenic
CEP164-related disorder|Nephronophthisis 15
β˜…β˜…β˜†β˜†2024β†’ Residue 870
View on ClinVar β†—
Related Genes
CIBAR2Shared pathway100%CFAP184Shared pathway100%HYLS1Shared pathway100%LRRC45Shared pathway100%WDR90Shared pathway100%PTPDC1Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
71%
Liver
59%
Lung
47%
Heart
22%
Brain
19%
Gene Interaction Network
Click a node to explore
CEP164CIBAR2CFAP184HYLS1LRRC45WDR90PTPDC1
PROTEIN STRUCTURE
Preparing viewer…
PDB7O06 Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.77–1.01]
RankingsWhere CEP164 stands among ~20K protein-coding genes
  • #7,437of 20,598
    Most Researched62
  • #569of 5,498
    Most Pathogenic Variants136 Β· top quartile
  • #9,806of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedCEP164
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301537
1.00
2
PMID: 27336129
0.90
3
The morbid genome of ciliopathies: an update.
PMID: 32055034
Genet Med Β· 2020
0.80
4
Phase separation of TTBK2 and CEP164 is necessary for ciliogenesis.
PMID: 40483689
Cell Rep Β· 2025
0.70
5
Embryonic and foetal expression patterns of the ciliopathy gene CEP164.
PMID: 31990917
PLoS One Β· 2020
0.60