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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CEP85L
centrosomal protein 85L
Chromosome 6 Β· 6q22.31
NCBI Gene: 387119Ensembl: ENSG00000111860.15HGNC: HGNC:21638UniProt: Q3ZCQ5
37PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
neuron migrationpericentriolar materialcentrosomelissencephaly 10hypertrophic cardiomyopathyfamilial isolated dilated cardiomyopathyatrial fibrillation
✦AI Summary

CEP85L encodes a centrosomal protein that plays an essential role in neuronal migration during brain development. The protein localizes to the pericentriolar material of the maternal centriole, where it forms a complex with key migration regulators including CDK5, LIS1, NDE1, KIF2A, and DYNC1H1 1. CEP85L functions by controlling CDK5 localization and activation, which is critical for proper centrosome organization and microtubule cytoskeleton dynamics during neuronal migration 1. Loss of CEP85L disrupts these processes, leading to defective neuronal migration with particularly severe effects in the posterior neocortex 1. Pathogenic variants in CEP85L cause lissencephaly type 10, a neurodevelopmental disorder characterized by posterior predominant lissencephaly with abnormal cortical thickness and absent cerebral convolutions 23. Clinical manifestations include global developmental delay (71% of cases), intellectual disability (74% of cases), and seizures (90% of cases), with brain imaging revealing predominantly posterior lissencephaly often accompanied by subcortical band heterotopia 4. Most pathogenic variants cluster in a highly conserved N-terminal region (amino acids 1-103) and follow autosomal dominant inheritance patterns 42. CEP85L represents an important genetic cause of posterior predominant lissencephaly, highlighting the critical role of centrosomal proteins in cortical development.

Sources cited
1
CEP85L localizes to maternal centriole, forms complex with CDK5/LIS1/NDE1/KIF2A/DYNC1H1, controls CDK5 activation for neuronal migration
PMID: 32097629
2
CEP85L variants cause posterior predominant lissencephaly, protein localizes to pericentriolar material
PMID: 32097630
3
Clinical features include developmental delay (71%), intellectual disability (74%), seizures (90%), variants cluster in N-terminal region
PMID: 40850669
4
CEP85L variants cause lissencephaly type 10 with posterior predominant abnormalities and variable phenotypes
PMID: 37621218
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
lissencephaly 10Open Targets
0.78Strong
hypertrophic cardiomyopathyOpen Targets
0.61Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.56Moderate
atrial fibrillationOpen Targets
0.53Moderate
cardiomyopathyOpen Targets
0.51Moderate
Abnormality of the cardiovascular systemOpen Targets
0.48Moderate
dilated cardiomyopathyOpen Targets
0.47Moderate
LissencephalyOpen Targets
0.47Moderate
TachycardiaOpen Targets
0.37Weak
lissencephaly 9 with complex brainstem malformationOpen Targets
0.37Weak
intrinsic cardiomyopathyOpen Targets
0.34Weak
Neurodevelopmental disorderOpen Targets
0.34Weak
sudden infant death syndromeOpen Targets
0.34Weak
Thick corpus callosumOpen Targets
0.34Weak
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.33Weak
cardiac arrhythmiaOpen Targets
0.27Weak
cardiac arrestOpen Targets
0.26Weak
sudden cardiac arrestOpen Targets
0.26Weak
atrial flutterOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.24Weak
Lissencephaly 10UniProt
Pathogenic Variants15
NM_001042475.3(CEP85L):c.232+5G>CLikely pathogenic
Lissencephaly 10
β˜…β˜†β˜†β˜†2025
NM_001042475.3(CEP85L):c.232+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001042475.3(CEP85L):c.2089C>T (p.Gln697Ter)Likely pathogenic
Lissencephaly 10
β˜…β˜†β˜†β˜†2024β†’ Residue 697
NM_001178035.2(CEP85L):c.57_60del (p.Ser20fs)Likely pathogenic
Lissencephaly 10
β˜…β˜†β˜†β˜†2023β†’ Residue 20
NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr)Pathogenic
Lissencephaly 10|Posterior Predominant Lissencephaly
β˜…β˜†β˜†β˜†2022β†’ Residue 1
NM_001042475.3(CEP85L):c.232+2T>APathogenic
Lissencephaly;Thick corpus callosum
β˜…β˜†β˜†β˜†2021
NM_001042475.3(CEP85L):c.189T>G (p.Ser63Arg)Likely pathogenic
Lissencephaly
β˜…β˜†β˜†β˜†2021β†’ Residue 63
NM_001042475.3(CEP85L):c.232+1G>TPathogenic
Posterior Predominant Lissencephaly|Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2021
NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)Likely pathogenic
Lissencephaly 10|Posterior Predominant Lissencephaly
β˜…β˜†β˜†β˜†2020β†’ Residue 65
NM_001042475.3(CEP85L):c.232+3G>TPathogenic
Lissencephaly 10|Posterior Predominant Lissencephaly
β˜†β˜†β˜†β˜†2020
NM_001042475.3(CEP85L):c.232+5G>APathogenic
Lissencephaly 10|Posterior Predominant Lissencephaly
β˜†β˜†β˜†β˜†2020
NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr)Pathogenic
Lissencephaly 10|Posterior Predominant Lissencephaly
β˜†β˜†β˜†β˜†2020β†’ Residue 68
NM_001042475.3(CEP85L):c.205G>A (p.Gly69Arg)Likely pathogenic
Posterior Predominant Lissencephaly
β˜†β˜†β˜†β˜†β†’ Residue 69
NM_001042475.3(CEP85L):c.1A>T (p.Met1Leu)Likely pathogenic
Posterior Predominant Lissencephaly
β˜†β˜†β˜†β˜†β†’ Residue 1
NM_001042475.3(CEP85L):c.172A>T (p.Ser58Cys)Likely pathogenic
Posterior Predominant Lissencephaly
β˜†β˜†β˜†β˜†β†’ Residue 58
View on ClinVar β†—
Related Genes
KIAA0319LShared pathway100%ASTN1Shared pathway50%ASTN2Shared pathway50%POMGNT2Shared pathway33%ACAP3Shared pathway33%NAV1Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
64%
Heart
41%
Brain
40%
Lung
36%
Liver
17%
Gene Interaction Network
Click a node to explore
CEP85LKIAA0319LASTN1ASTN2POMGNT2ACAP3NAV1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q3ZCQ5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.70LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.52 [0.39–0.70]
RankingsWhere CEP85L stands among ~20K protein-coding genes
  • #10,602of 20,598
    Most Researched37
  • #2,475of 5,498
    Most Pathogenic Variants15
  • #5,281of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedCEP85L
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Overview and expansion of CEP85L-associated lissencephaly.
PMID: 40850669
Eur J Med Genet Β· 2025
1.00
2
Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program.
PMID: 36802703
Circulation Β· 2023
0.90
3
Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.
PMID: 37621218
Am J Med Genet A Β· 2023
0.80
4
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the
PMID: 34440382
Genes (Basel) Β· 2021
0.70
5
Genetic risk factors associated with ocular perfusion pressure in primary open-angle glaucoma.
PMID: 40128813
Hum Genomics Β· 2025
0.60