Gene Gene information from NCBI Gene database.
Entrez ID 83879
Gene name Cell division cycle associated 7
Gene symbol CDCA7
Synonyms (NCBI Gene)
ICF3JPO1
Chromosome 2
Chromosome location 2q31.1
Summary This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, su
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs370384522 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs772929976 G>A,T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs876657409 G>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
rs879253738 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
141
miRTarBase ID miRNA Experiments Reference
MIRT005056 hsa-let-7b-5p Microarray 17699775
MIRT002583 hsa-miR-124-3p Microarray 15685193
MIRT016410 hsa-miR-193b-3p Microarray 20304954
MIRT002583 hsa-miR-124-3p Microarray 15685193
MIRT002583 hsa-miR-124-3p Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
E2F1 Activation 16580749
MYC Unknown 16580749
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 11598121
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609937 14628 ENSG00000144354
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BWT1
Protein name Cell division cycle-associated protein 7 (Protein JPO1)
Protein function Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesi
PDB 8TLK , 8YV8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10497 zf-4CXXC_R1 262 360 Zinc-finger domain of monoamine-oxidase A repressor R1 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous with higher level in thymus and small intestine. Overexpressed in a large number of tumors, in blood from patients with acute myelogenous leukemia (AML) and in chronic myelogenous leukemia (CML) blast crisis. {ECO:0000269|Pu
Sequence
MDARRVPQKDLRVKKNLKKFRYVKLISMETSSSSDDSCDSFASDNFANTRLQSVREGCRT
RSQCRHSGPLRVAMKFPARSTRGATNKKAESRQPSENSVTDSNSDSEDESGMNFLEKRAL
NIKQNKAMLAKLMSELESFPGSFRGRHPLPGSDSQSRRPRRRTFPGVASRRNPERRARPL
TRSRSRILGSLDALPMEEEEEEDKYMLVRKRKTVDGYMNEDDLPRSRRSRSSVTLPHIIR
PVEEITEEELENVCSNSREKIYNRSLGSTCHQCRQKTIDTKTNCRNPDCWGVRGQFCGPC
LRNRYGEEVRDALLDPNWHCPPCRGICNCSFCRQRDGRCATGVLVYLAKYHGFGNVHAYL

KSLKQEFEMQA
Sequence length 371
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CDCA7-related disorder Likely benign; Benign rs371105923, rs2288992, rs763557777, rs773129433, rs145586650, rs146148251, rs138353896 RCV003933681
RCV003923740
RCV003923560
RCV003909562
RCV004758114
RCV003967958
RCV003928620
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 Benign; Likely benign; no classifications from unflagged records; Conflicting classifications of pathogenicity; Uncertain significance rs113611019, rs4972555, rs2288993, rs754138992, rs879253738, rs876657409, rs772929976, rs370384522, rs2468428983, rs1333528726, rs116079323, rs146148251, rs770948684 RCV005232375
RCV001554862
RCV001554382
RCV005232899
RCV000210913
RCV000210916
RCV000210909
RCV000210914
RCV003142430
RCV003756652
RCV003754900
RCV003754890
RCV002480780
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32221746
Breast Neoplasms Associate 24743323
Burkitt Lymphoma Stimulate 29880607
Carcinogenesis Associate 37510310
Carcinoma Hepatocellular Associate 36860864
Colorectal Neoplasms Stimulate 32319649
Esophageal Squamous Cell Carcinoma Associate 36056599
Glioblastoma Associate 40114265
Glioma Associate 37510310, 38181024
Head and Neck Neoplasms Associate 33160365