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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDK5RAP2
CDK5 regulatory subunit associated protein 2
Chromosome 9 · 9q33.2
NCBI Gene: 55755Ensembl: ENSG00000136861.19HGNC: HGNC:18672UniProt: A0A0A0MRG9
120PubMed Papers
21Diseases
0Drugs
78Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription cis-regulatory region bindingmicrotubuleprotein bindingcalmodulin bindingautosomal recessive primary microcephalyPrimary microcephalygenetic disorderbipolar disorder
✦AI Summary

CDK5RAP2 (CDK5 regulatory subunit associated protein 2) functions as a critical regulator of centrosome biology and microtubule organization. The protein serves as an essential adapter for recruiting and organizing the γ-tubulin ring complex (γ-TuRC) at centrosomes, where it promotes γ-TuRC closure and activation through multiple binding interactions 1. CDK5RAP2 regulates centrosomal maturation by facilitating microtubule nucleation and extension, working in complex with other proteins including MAPRE1 and AKAP9 1. The protein exhibits spatiotemporal expression patterns during brain development that correlate with regions affected in microcephaly 2. Disease relevance is significant, as homozygous mutations in CDK5RAP2 cause primary autosomal recessive microcephaly type 3 (MCPH3), characterized by reduced brain size, intellectual disability, and cortical abnormalities 32. Recent studies have identified novel pathogenic variants expanding the mutation spectrum 3. Additionally, CDK5RAP2 variants may modulate Alzheimer's disease risk through effects on gene expression 4. The protein's role extends beyond neurodevelopment, with evidence suggesting involvement in cancer stem cell regulation and tumor progression 5. CDK5RAP2's evolutionary significance is highlighted by its interaction with human-specific retrotransposons that regulate neuronal maturation timing 6.

Sources cited
1
CDK5RAP2 serves as adapter for γ-TuRC recruitment and promotes γ-TuRC closure/activation at centrosomes
PMID: 40074789
2
CDK5RAP2 expression during brain development correlates with microcephaly pathology regions
PMID: 22806269
3
Homozygous CDK5RAP2 mutations cause MCPH3 with novel variants identified
PMID: 40243280
4
CDK5RAP2 variants associated with Alzheimer's disease risk through gene expression modulation
PMID: 29360470
5
CDK5RAP2 promotes cancer stem cell properties and tumor progression
PMID: 36774351
6
CDK5RAP2 interacts with human-specific retrotransposons regulating neuronal maturation
PMID: 36997626
Disease Associationsⓘ21
autosomal recessive primary microcephalyOpen Targets
0.79Strong
Primary microcephalyOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.42Moderate
bipolar disorderOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.35Weak
microcephalyOpen Targets
0.34Weak
hypertensionOpen Targets
0.29Weak
rheumatoid arthritisOpen Targets
0.29Weak
neutropeniaOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.28Weak
iron metabolism diseaseOpen Targets
0.27Weak
urethral syndromeOpen Targets
0.26Weak
Decreased total leukocyte countOpen Targets
0.25Weak
ShockOpen Targets
0.25Weak
major depressive disorderOpen Targets
0.23Weak
Abnormality of the gastrointestinal tractOpen Targets
0.20Weak
Abdominal painOpen Targets
0.19Weak
Low back painOpen Targets
0.19Weak
smoking initiationOpen Targets
0.19Weak
complex regional pain syndromeOpen Targets
0.18Weak
Microcephaly 3, primary, autosomal recessiveUniProt
Pathogenic Variants78
NM_018249.6(CDK5RAP2):c.4420C>T (p.Gln1474Ter)Pathogenic
not provided
★★☆☆2026→ Residue 1474
NM_018249.6(CDK5RAP2):c.4546G>T (p.Glu1516Ter)Pathogenic
Microcephaly 3, primary, autosomal recessive|not provided|CDK5RAP2-related disorder
★★☆☆2026→ Residue 1516
NM_018249.6(CDK5RAP2):c.564_565dup (p.Lys189fs)Pathogenic
Microcephaly 3, primary, autosomal recessive|not provided
★★☆☆2025→ Residue 189
NM_018249.6(CDK5RAP2):c.4005-1G>APathogenic
Microcephaly 3, primary, autosomal recessive|not provided
★★☆☆2025
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter)Pathogenic
Microcephaly 3, primary, autosomal recessive|not provided
★★☆☆2025→ Residue 1481
NM_018249.6(CDK5RAP2):c.1279C>T (p.Arg427Ter)Pathogenic
Microcephaly 3, primary, autosomal recessive|not provided
★★☆☆2025→ Residue 427
NM_018249.6(CDK5RAP2):c.4977T>G (p.Tyr1659Ter)Pathogenic
not provided
★★☆☆2024→ Residue 1659
NM_018249.6(CDK5RAP2):c.5152del (p.Leu1718fs)Likely pathogenic
Microcephaly 3, primary, autosomal recessive
★★☆☆2024→ Residue 1718
NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter)Pathogenic
Microcephaly 3, primary, autosomal recessive|not provided
★★☆☆2024→ Residue 1743
NM_018249.6(CDK5RAP2):c.4672C>T (p.Arg1558Ter)Pathogenic
Microcephaly 3, primary, autosomal recessive
★★☆☆2024→ Residue 1558
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs)Pathogenic
Microcephaly 3, primary, autosomal recessive|not provided
★★☆☆2024→ Residue 175
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs)Pathogenic
Microcephaly 3, primary, autosomal recessive|Inborn genetic diseases|not provided
★★☆☆2023→ Residue 1033
NM_018249.6(CDK5RAP2):c.558_559del (p.Glu186fs)Pathogenic
Microcephaly 3, primary, autosomal recessive|not provided
★★☆☆2023→ Residue 186
NM_018249.6(CDK5RAP2):c.4963+1G>ALikely pathogenic
Microcephaly 3, primary, autosomal recessive|Cervical cancer
★★☆☆2021
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter)Pathogenic
Microcephaly 3, primary, autosomal recessive
★★☆☆2020→ Residue 1403
NM_018249.6(CDK5RAP2):c.3792del (p.His1264fs)Pathogenic
Microcephaly 3, primary, autosomal recessive
★☆☆☆2026→ Residue 1264
NM_018249.6(CDK5RAP2):c.4558C>T (p.Gln1520Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 1520
NM_018249.6(CDK5RAP2):c.3035dup (p.Val1013fs)Pathogenic
not provided
★☆☆☆2025→ Residue 1013
NM_018249.6(CDK5RAP2):c.4077_4080del (p.Ser1360fs)Pathogenic
not provided
★☆☆☆2025→ Residue 1360
NM_018249.6(CDK5RAP2):c.4005-9A>GLikely pathogenic
not provided
★☆☆☆2025
View on ClinVar ↗
Related Genes
PRKACAProtein interaction100%NEDD1Protein interaction99%PLK1Protein interaction94%MCPH1Protein interaction94%NME7Protein interaction92%MZT2AProtein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
68%
Heart
67%
Ovary
58%
Lung
53%
Liver
50%
Gene Interaction Network
Click a node to explore
CDK5RAP2PRKACANEDD1PLK1MCPH1NME7MZT2A
PROTEIN STRUCTURE
Preparing viewer…
PDB8RX1 · 3.57 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.51–0.69]
RankingsWhere CDK5RAP2 stands among ~20K protein-coding genes
  • #3,909of 20,598
    Most Researched120 · top quartile
  • #949of 5,498
    Most Pathogenic Variants78 · top quartile
  • #5,229of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedCDK5RAP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening.
PMID: 39702477
Nat Commun · 2024
1.00
2
A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.
PMID: 40243280
Am J Med Genet A · 2025
0.90
3
CDK5RAP2 is a Wnt target gene and promotes stemness and progression of oral squamous cell carcinoma.
PMID: 36774351
Cell Death Dis · 2023
0.80
4
CDK5RAP2 gene and tau pathophysiology in late-onset sporadic Alzheimer's disease.
PMID: 29360470
Alzheimers Dement · 2018
0.70
5
Hominoid SVA-lncRNA AK057321 targets human-specific SVA retrotransposons in SCN8A and CDK5RAP2 to initiate neuronal maturation.
PMID: 36997626
Commun Biol · 2023
0.60