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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.
CDC45
cell division cycle 45
Chromosome 22 Β· 22q11.21
NCBI Gene: 8318Ensembl: ENSG00000093009.12HGNC: HGNC:1739UniProt: O75419
136PubMed Papers
21Diseases
0Drugs
23Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA replicationciliary basal bodyprotein bindingnucleusEar-patella-short stature syndromegenetic disordermicrocephalyandrogen insensitivity syndrome
✦AI Summary

CDC45 is an essential component of the CDC45-MCM-GINS (CMG) helicase complex, which serves as the core replicative machinery for eukaryotic DNA replication 1. The CMG complex functions as the central molecular machine that unwinds template DNA during replication, with the replisome organized around this helicase 1. CDC45 is required for the initiation of chr22 DNA replication and plays a crucial role in CMG assembly 2. The protein is involved in replication fork progression, with structural studies revealing its detailed interactions within the human replisome containing CMG, DNA polymerase Ξ΅, and accessory proteins like TIMELESS-TIPIN and CLASPIN 3. CDC45 participates in specialized DNA repair processes, including the resolution of G-quadruplex structures during replication, where the CMG helicase can stall at these secondary structures on the leading strand 4. Disease associations include Meier-Gorlin syndrome 7, and CDC45 expression has been implicated as a biomarker in acute respiratory distress syndrome 5. The gene's promoter contains regulatory elements responsive to transcriptional activation, including GGAA motifs that can be induced by compounds like trans-resveratrol 6.

Sources cited
1
CDC45 is a core component of the CMG helicase complex that serves as the central replicative machinery
PMID: 35585232
2
CDC45 is required for CMG assembly during replication initiation
PMID: 37590370
3
Structural organization of CDC45 within the human replisome complex
PMID: 34694004
4
CDC45 role in CMG helicase stalling at G-quadruplex structures during replication
PMID: 34559566
5
CDC45 expression as a biomarker in acute respiratory distress syndrome
PMID: 37922010
6
CDC45 promoter regulation through GGAA motifs responsive to trans-resveratrol
PMID: 38577929
Disease Associationsβ“˜21
Ear-patella-short stature syndromeOpen Targets
0.81Strong
genetic disorderOpen Targets
0.19Weak
microcephalyOpen Targets
0.11Weak
androgen insensitivity syndromeOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
urinary system diseaseOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.10Suggestive
cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
cervical cancerOpen Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.05Suggestive
melanomaOpen Targets
0.05Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
head and neck squamous cell carcinomaOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
Meier-Gorlin syndrome 7UniProt
Pathogenic Variants23
NM_003504.5(CDC45):c.1388C>T (p.Pro463Leu)Pathogenic
Meier-Gorlin syndrome 7|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 463
NM_003504.5(CDC45):c.326_329dup (p.Asn111fs)Pathogenic
Meier-Gorlin syndrome 7
β˜…β˜…β˜†β˜†2018β†’ Residue 111
NM_003504.5(CDC45):c.1642G>T (p.Glu548Ter)Pathogenic
Meier-Gorlin syndrome 7
β˜…β˜†β˜†β˜†2025β†’ Residue 548
NM_003504.5(CDC45):c.1279C>T (p.Gln427Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 427
NM_003504.5(CDC45):c.542+221_542+222delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003504.5(CDC45):c.654-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003504.5(CDC45):c.591+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003504.5(CDC45):c.165G>A (p.Trp55Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 55
NM_003504.5(CDC45):c.*1+5G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_003504.5(CDC45):c.870del (p.Cys291fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 291
NM_003504.5(CDC45):c.1489_1490del (p.Leu497fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 497
NM_003504.5(CDC45):c.121del (p.Gln41fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 41
NM_003504.5(CDC45):c.790_791del (p.Ser264fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 264
NM_003504.5(CDC45):c.1180del (p.Thr394fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 394
NM_003504.5(CDC45):c.52-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_003504.5(CDC45):c.893C>T (p.Ala298Val)Likely pathogenic
Meier-Gorlin syndrome 7
β˜…β˜†β˜†β˜†2018β†’ Residue 298
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg)Likely pathogenic
Meier-Gorlin syndrome 7
β˜…β˜†β˜†β˜†2018β†’ Residue 68
NM_003504.5(CDC45):c.226A>C (p.Asn76His)Likely pathogenic
Meier-Gorlin syndrome 7
β˜…β˜†β˜†β˜†2018β†’ Residue 76
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly)Likely pathogenic
Meier-Gorlin syndrome 7
β˜…β˜†β˜†β˜†2018β†’ Residue 226
NM_003504.5(CDC45):c.914_915del (p.Val305fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 305
View on ClinVar β†—
Related Genes
POLEProtein interaction100%TK1Protein interaction100%TYMSProtein interaction100%CHAF1BProtein interaction100%CDT1Protein interaction100%POLE3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
20%
Lung
4%
Liver
2%
Heart
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
CDC45POLETK1TYMSCHAF1BCDT1POLE3
PROTEIN STRUCTURE
Preparing viewer…
PDB5DGO Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.46–0.77]
RankingsWhere CDC45 stands among ~20K protein-coding genes
  • #3,402of 20,598
    Most Researched136 Β· top quartile
  • #2,043of 5,498
    Most Pathogenic Variants23
  • #6,234of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedCDC45
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Eukaryotic DNA Replication Fork.
PMID: 28301743
Annu Rev Biochem Β· 2017
1.00
2
Fast and efficient DNA replication with purified human proteins.
PMID: 35585232
Nature Β· 2022
0.90
3
The auxin-inducible degron 2 technology provides sharp degradation control in yeast, mammalian cells, and mice.
PMID: 33177522
Nat Commun Β· 2020
0.80
4
Identification of genetic profile and biomarkers involved in acute respiratory distress syndrome.
PMID: 37922010
Intensive Care Med Β· 2024
0.70
5
Structure of a human replisome shows the organisation and interactions of a DNA replication machine.
PMID: 34694004
EMBO J Β· 2021
0.60