CDCA7 (cell division cycle associated 7)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83879
Gene name Gene Name - the full gene name approved by the HGNC.
Cell division cycle associated 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDCA7
Synonyms (NCBI Gene) Gene synonyms aliases
ICF3, JPO1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
E2F1 Activation 16580749
MYC Unknown 16580749
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609937 14628 ENSG00000144354
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein 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
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome immunodeficiency-centromeric instability-facial anomalies syndrome 3 rs879253738, rs876657409, rs370384522 N/A
Show/Hide Unknown Diseases (5)
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
Asthma Asthma N/A N/A GWAS
Breast cancer Breast cancer N/A N/A GWAS
Breast Cancer Breast cancer subtype (triple negative vs luminal B-like) N/A N/A GWAS
Lung adenocarcinoma Lung adenocarcinoma N/A N/A GWAS
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease 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