Gene Gene information from NCBI Gene database.
Entrez ID 990
Gene name Cell division cycle 6
Gene symbol CDC6
Synonyms (NCBI Gene)
CDC18LHsCDC18HsCDC6MGORS5
Chromosome 17
Chromosome location 17q21.2
Summary The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus durin
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs4135010 A>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs200468440 C>G Likely-pathogenic, uncertain-significance Stop gained, coding sequence variant
rs387906842 C>G,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
279
miRTarBase ID miRNA Experiments Reference
MIRT001022 hsa-miR-26a-5p Western blot 18713946
MIRT016523 hsa-miR-193b-3p Microarray 20304954
MIRT021602 hsa-miR-142-3p Microarray 17612493
MIRT041141 hsa-miR-501-5p CLASH 23622248
MIRT040157 hsa-miR-615-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
AR Activation 24583551
AR Unknown 18541154
ARID3A Unknown 23659165
E2F1 Unknown 18541154
E2F3 Unknown 18541154
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000076 Process DNA replication checkpoint signaling TAS 9566895
GO:0000079 Process Regulation of cyclin-dependent protein serine/threonine kinase activity TAS 9566895
GO:0000166 Function Nucleotide binding IEA
GO:0000166 Function Nucleotide binding TAS 8990175
GO:0000922 Component Spindle pole IDA 21041660
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602627 1744 ENSG00000094804
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99741
Protein name Cell division control protein 6 homolog (CDC6-related protein) (Cdc18-related protein) (HsCdc18) (p62(cdc6)) (HsCDC6)
Protein function Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.
PDB 2CCH , 2CCI , 4I5L , 4I5N , 8HT7 , 8RWV , 8S0E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13401 AAA_22 188 323 AAA domain Domain
PF17872 AAA_lid_10 352 411 AAA lid domain Domain
PF09079 Cdc6_C 465 544 CDC6, C terminal winged helix domain Domain
Sequence
MPQTRSQAQATISFPKRKLSRALNKAKNSSDAKLEPTNVQTVTCSPRVKALPLSPRKRLG
DDNLCNTPHLPPCSPPKQGKKENGPPHSHTLKGRRLVFDNQLTIKSPSKRELAKVHQNKI
LSSVRKSQEITTNSEQRCPLKKESACVRLFKQEGTCYQQAKLVLNTAVPDRLPAREREMD
VIRNFLREHICGKKAGSLYLSGAPGTGKTACLSRILQDLKKELKGFKTIMLNCMSLRTAQ
AVFPAIAQEICQEEVSRPAGKDMMRKLEKHMTAEKGPMIVLVLDEMDQLDSKGQDVLYTL
FEWPWLSNSHLVLIGIANTLDLT
DRILPRLQAREKCKPQLLNFPPYTRNQIVTILQDRLN
QVSRDQVLDNAAVQFCARKVSAVSGDVRKALDVCRRAIEIVESDVKSQTIL
KPLSECKSP
SEPLIPKRVGLIHISQVISEVDGNRMTLSQEGAQDSFPLQQKILVCSLMLLIRQLKIKEV
TLGKLYEAYSKVCRKQQVAAVDQSECLSLSGLLEARGILGLKRNKETRLTKVFFKIEEKE
IEHA
LKDKALIGNILATGLP
Sequence length 560
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle
Chemical carcinogenesis - receptor activation
  Transcription of E2F targets under negative control by DREAM complex
Activation of ATR in response to replication stress
CDC6 association with the ORC:origin complex
CDT1 association with the CDC6:ORC:origin complex
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
CDK-mediated phosphorylation and removal of Cdc6
G1/S-Specific Transcription
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
45
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CDC6-related disorder Likely benign; Conflicting classifications of pathogenicity rs748118305, rs147186134, rs181925915 RCV003936578
RCV003937686
RCV003940272
Clear cell carcinoma of kidney Benign rs1413947203 RCV005868659
Colon adenocarcinoma Benign rs1413947203 RCV005868657
Malignant tumor of esophagus Benign rs1413947203 RCV005868658
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 33020506
Adenocarcinoma Stimulate 23011157
Adenocarcinoma Associate 31116002
Anophthalmia with pulmonary hypoplasia Associate 39376555
Arthritis Rheumatoid Associate 31173250
Astrocytoma Associate 26317630
Atypical Squamous Cells of the Cervix Associate 12296751
Azoospermia Associate 34738918
Breast Neoplasms Associate 18332872, 20079629, 21607584, 23159852, 36997866
Breast Neoplasms Male Associate 22527098