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Aliases for CDCA7 Gene

Aliases for CDCA7 Gene

  • Cell Division Cycle Associated 7 2 3 5
  • JPO1 3 4
  • Cell Division Cycle-Associated Protein 7 3
  • C-Myc Target JPO1 3
  • Protein JPO1 4
  • ICF3 3

External Ids for CDCA7 Gene

Previous GeneCards Identifiers for CDCA7 Gene

  • GC02P172272
  • GC02P172880
  • GC02P174183
  • GC02P174422
  • GC02P174045
  • GC02P173927
  • GC02P166100

Summaries for CDCA7 Gene

Entrez Gene Summary for CDCA7 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, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for CDCA7 Gene

CDCA7 (Cell Division Cycle Associated 7) is a Protein Coding gene. Diseases associated with CDCA7 include Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 and Immunodeficiency, Centromere Instability And Facial Anomalies Syndrome. Among its related pathways are Validated targets of C-MYC transcriptional activation. An important paralog of this gene is CDCA7L.

UniProtKB/Swiss-Prot for CDCA7 Gene

  • 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 tumorigenesis. May play a role as transcriptional regulator.

Gene Wiki entry for CDCA7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDCA7 Gene

Genomics for CDCA7 Gene

Regulatory Elements for CDCA7 Gene

Enhancers for CDCA7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F173249 2 VISTA 10.8 -103.6 -103593 1.6 BCOR PKNOX1 FEZF1 ZIC2 ZNF2 POLR2A ADNP ZNF600 ZNF391 ZEB2 CDCA7 LOC100289479 PIR34994 MAP3K20-AS1
GH02F173264 1.4 FANTOM5 Ensembl ENCODE 10.8 -89.3 -89317 1.4 TBL1XR1 TAL1 ZFP64 MAX ZNF101 ETV6 CREM SMARCE1 MTA2 BHLHE40 CDCA7 LOC100289479 MAP3K20 MAP3K20-AS1 PIR34994
GH02F173237 0.8 ENCODE 18 -115.1 -115133 3.1 SOX13 TBL1XR1 BMI1 RELA CBX5 EED ETV6 CREM SRF SOX5 CDCA7 LOC100289479 PIR34994 MAP3K20-AS1
GH02F173209 1.3 Ensembl ENCODE 10.2 -143.3 -143292 2.0 ATF1 PKNOX1 ARNT ZNF2 ZNF766 GATA2 ZNF143 FOS SP3 NCOA1 MAP3K20 CDCA7 LOC100289479 MAP3K20-AS1 PIR34994 GC02P173132
GH02F173043 1.3 FANTOM5 Ensembl ENCODE 10 -309.1 -309127 3.4 JUNB CEBPG REST HDAC8 KAT2B E2F1 GATA3 FOS CUX1 FOXP2 MAP3K20 CDCA7 LOC100289479 GC02P173050 ALDH7A1P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDCA7 on UCSC Golden Path with GeneCards custom track

Promoters for CDCA7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000602604 984 2800 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF143

Genomic Location for CDCA7 Gene

Chromosome:
2
Start:
173,354,017 bp from pter
End:
173,368,997 bp from pter
Size:
14,981 bases
Orientation:
Plus strand

Genomic View for CDCA7 Gene

Genes around CDCA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDCA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDCA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDCA7 Gene

Proteins for CDCA7 Gene

  • Protein details for CDCA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWT1-CDCA7_HUMAN
    Recommended name:
    Cell division cycle-associated protein 7
    Protein Accession:
    Q9BWT1
    Secondary Accessions:
    • B4DLP8
    • B4DV66
    • Q53EW5
    • Q580W9
    • Q658K4
    • Q658N4
    • Q8NBY9
    • Q96BV8
    • Q96SP5

    Protein attributes for CDCA7 Gene

    Size:
    371 amino acids
    Molecular mass:
    42573 Da
    Quaternary structure:
    • Interacts with MYC (via C-terminus), YWHAE and YWHAZ.
    Miscellaneous:
    • CDCA7 expression is correlated with MYC expression in lymphoblastoid, lymphoma and breast cancer cell lines.
    SequenceCaution:
    • Sequence=CAH56357.1; Type=Frameshift; Positions=260; Evidence={ECO:0000305};

    Alternative splice isoforms for CDCA7 Gene

neXtProt entry for CDCA7 Gene

Post-translational modifications for CDCA7 Gene

  • Phosphorylation at Thr-163 promotes interaction with YWHAE and YWHAZ, dissociation from MYC and sequestration in the cytoplasm. In vitro, phosphorylated at Thr-163 by AKT.
  • Ubiquitination at Lys 123, Lys 131, Lys 204, Lys 212, Lys 349, and Lys 364
  • Modification sites at PhosphoSitePlus

Other Protein References for CDCA7 Gene

No data available for DME Specific Peptides for CDCA7 Gene

Domains & Families for CDCA7 Gene

No data available for Gene Families and UniProtKB/Swiss-Prot for CDCA7 Gene

Function for CDCA7 Gene

Molecular function for CDCA7 Gene

UniProtKB/Swiss-Prot 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 tumorigenesis. May play a role as transcriptional regulator.
UniProtKB/Swiss-Prot Induction:
Activated by MYC and possibly E2F1.
genes like me logo Genes that share phenotypes with CDCA7: view

Human Phenotype Ontology for CDCA7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CDCA7 Gene

Localization for CDCA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDCA7 Gene

Nucleus. Cytoplasm. Note=Predominantly nuclear with some expression also seen in the cytoplasm. Predominantly cytoplasmic when phosphorylated at Thr-163.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDCA7 gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for CDCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11598121
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with CDCA7: view

Pathways & Interactions for CDCA7 Gene

genes like me logo Genes that share pathways with CDCA7: view

Pathways by source for CDCA7 Gene

1 BioSystems pathway for CDCA7 Gene

Interacting Proteins for CDCA7 Gene

SIGNOR curated interactions for CDCA7 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CDCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA --
GO:0042127 regulation of cell proliferation IEA,IDA 11598121
genes like me logo Genes that share ontologies with CDCA7: view

Transcripts for CDCA7 Gene

Unigene Clusters for CDCA7 Gene

Cell division cycle associated 7:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDCA7 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - - -

Relevant External Links for CDCA7 Gene

GeneLoc Exon Structure for
CDCA7
ECgene alternative splicing isoforms for
CDCA7

Expression for CDCA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDCA7 Gene

mRNA differential expression in normal tissues according to GTEx for CDCA7 Gene

This gene is overexpressed in Colon - Transverse (x5.1) and Small Intestine - Terminal Ileum (x4.5).

Protein differential expression in normal tissues from HIPED for CDCA7 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDCA7 Gene



Protein tissue co-expression partners for CDCA7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CDCA7 Gene:

CDCA7

SOURCE GeneReport for Unigene cluster for CDCA7 Gene:

Hs.470654

mRNA Expression by UniProt/SwissProt for CDCA7 Gene:

Q9BWT1-CDCA7_HUMAN
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.
genes like me logo Genes that share expression patterns with CDCA7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CDCA7 Gene

Orthologs for CDCA7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDCA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDCA7 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia CDCA7 34
  • 90.99 (n)
-- 35
  • 88 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CDCA7 34 35
  • 85.71 (n)
mouse
(Mus musculus)
Mammalia Cdca7 34 16 35
  • 79.55 (n)
rat
(Rattus norvegicus)
Mammalia Cdca7 34
  • 79.2 (n)
oppossum
(Monodelphis domestica)
Mammalia CDCA7 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDCA7 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDCA7 34 35
  • 65.43 (n)
lizard
(Anolis carolinensis)
Reptilia CDCA7 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdca7 34
  • 62.77 (n)
Str.1379 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.34018 34
zebrafish
(Danio rerio)
Actinopterygii cdca7a 34 35
  • 58.69 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13340 34
Species where no ortholog for CDCA7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDCA7 Gene

ENSEMBL:
Gene Tree for CDCA7 (if available)
TreeFam:
Gene Tree for CDCA7 (if available)

Paralogs for CDCA7 Gene

Paralogs for CDCA7 Gene

(1) SIMAP similar genes for CDCA7 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for CDCA7 Gene

genes like me logo Genes that share paralogs with CDCA7: view

Variants for CDCA7 Gene

Sequence variations from dbSNP and Humsavar for CDCA7 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs370384522 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910], Pathogenic 173,366,305(+) ATGCC(A/G)TCAGA nc-transcript-variant, reference, missense
VAR_076578 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910]
rs772929976 Pathogenic 173,366,395(+) AAACC(A/G)TTATG nc-transcript-variant, reference, missense
rs876657409 Pathogenic 173,366,365(+) TCGAG(-/G)CCAGT nc-transcript-variant, reference, frameshift-variant
rs879253738 Pathogenic 173,366,304(+) AATGC(C/T)GTCAG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CDCA7 Gene

Variant ID Type Subtype PubMed ID
nsv834462 CNV loss 17160897

Variation tolerance for CDCA7 Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDCA7 Gene

Human Gene Mutation Database (HGMD)
CDCA7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDCA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDCA7 Gene

Disorders for CDCA7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CDCA7 Gene - From: ClinVar, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CDCA7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CDCA7_HUMAN
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3 (ICF3) [MIM:616910]: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. {ECO:0000269 PubMed:26216346}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Relevant External Links for CDCA7

Genetic Association Database (GAD)
CDCA7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDCA7
genes like me logo Genes that share disorders with CDCA7: view

No data available for Genatlas for CDCA7 Gene

Publications for CDCA7 Gene

  1. A novel c-Myc-responsive gene, JPO1, participates in neoplastic transformation. (PMID: 11598121) Prescott J.E. … Dang C.V. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. Drug target discovery by gene expression analysis: cell cycle genes. (PMID: 12188893) Walker M.G. (Curr. Cancer Drug Targets 2001) 2 3 4 64
  3. Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. (PMID: 26216346) Thijssen P.E. … Sasaki H. (Nat Commun 2015) 3 4 64
  4. The MYC-associated protein CDCA7 is phosphorylated by AKT to regulate MYC-dependent apoptosis and transformation. (PMID: 23166294) Gill R.M. … Scheid M.P. (Mol. Cell. Biol. 2013) 3 4 64
  5. JPO1/CDCA7, a novel transcription factor E2F1-induced protein, possesses intrinsic transcriptional regulator activity. (PMID: 16580749) Goto Y. … Yoshida K. (Biochim. Biophys. Acta 2006) 3 4 64

Products for CDCA7 Gene

Sources for CDCA7 Gene

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