CDC45 (cell division cycle 45)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8318
Gene name Gene Name - the full gene name approved by the HGNC.
Cell division cycle 45
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDC45
Synonyms (NCBI Gene) Gene synonyms aliases
CDC45L, CDC45L2, MGORS7, PORC-PI-1
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs146559223 C>A,T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs540217942 C>T Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs540900837 C>T Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs745800041 C>T Pathogenic Synonymous variant, non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant
rs748749078 C>T Pathogenic Synonymous variant, non coding transcript variant, intron variant, genic upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT037897 hsa-miR-455-3p CLASH 23622248
MIRT054111 hsa-miR-575 Microarray 22995316
MIRT1960434 hsa-miR-4762-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0000076 Process DNA replication checkpoint signaling TAS 9660782
GO:0000727 Process Double-strand break repair via break-induced replication IBA
GO:0003682 Function Chromatin binding IBA
GO:0003688 Function DNA replication origin binding IBA
GO:0003697 Function Single-stranded DNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603465 1739 ENSG00000093009
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O75419
Protein name Cell division control protein 45 homolog (PORC-PI-1)
Protein function Required for initiation of chromosomal DNA replication. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built. {ECO:0000269|PubMed:32453425, E
PDB 5DGO , 6XTX , 6XTY , 7PFO , 7PLO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02724 CDC45 19 → 163 CDC45-like protein Family
PF02724 CDC45 131 → 563 CDC45-like protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, highest levels are found in adult testis and thymus and in fetal liver.
Sequence 
MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELET
AFLEHKEQFHYFILINCGANVDLLDILQPDEDTIFFVCDTHRPVNVVNVYNDTQIKLLIK
QDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEAR
RRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVT
DVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARF
KLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQT
FSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAK
KQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCS
TKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKNFFGRAFEKAAESTSSRMLHN
HFDLSVIELKAEDRSKFLDALISLLS
Sequence length 566
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cell cycle   Activation of ATR in response to replication stress
Activation of the pre-replicative complex
G1/S-Specific Transcription
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Meier-Gorlin Syndrome meier-gorlin syndrome 7 rs754080445, rs879255632, rs879255633, rs146559223, rs751663397, rs752023208 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (32)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32121037
Ataxia Telangiectasia Associate 23910567
Breast Neoplasms Associate 32932728
Carcinogenesis Associate 33622998
Carcinoma Hepatocellular Associate 29962817, 31011256, 32393195, 33622998, 37985379, 40255404
Chromosomal Instability Associate 36516748
Colorectal Neoplasms Associate 29197895
Congenital Abnormalities Associate 9660782
Conotruncal cardiac defects Associate 22185286
Craniosynostoses Associate 27374770, 27884935, 31474763, 34353863