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 distin... See more...

Aliases for CDCA7 Gene

Aliases for CDCA7 Gene

  • Cell Division Cycle Associated 7 2 3 5
  • JPO1 2 3 4
  • Cell Division Cycle-Associated Protein 7 3 4
  • C-Myc Target JPO1 3
  • Protein JPO1 4
  • FLJ14736 2
  • CDCA7 5
  • 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-Centromeric Instability-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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDCA7 Gene

Genomics for CDCA7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDCA7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J173353 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 258.9 +0.7 707 4.5 SP1 ZNF207 ZNF600 NCOR1 MYC SSRP1 ZNF580 ZNF592 KLF9 POLR2A CDCA7 ENSG00000236391 MAP3K20-AS1 lnc-SP3-2-002 ENSG00000271151 SP3
GH02J173249 Enhancer 1.3 VISTA UCNEbase Ensembl 10.9 -104.4 -104396 1.6 ZNF600 ZIC2 FEZF1 ZNF843 PRDM6 ZNF2 ZNF189 SP7 PRDM4 TRIM28 CDCA7 ENSG00000236391 piR-32285-057 piR-41995 MAP3K20-AS1 MAP3K20
GH02J173237 Enhancer 0.8 ENCODE 18.1 -115.9 -115936 3.1 BCLAF1 SP1 CEBPA BCL11A FOXA2 IRF4 EBF1 CBFB SOX5 BATF CDCA7 ENSG00000236391 piR-41995 piR-32285-057 MAP3K20-AS1 MAP3K20
GH02J173209 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.3 -144.1 -144119 2.2 IKZF1 NCOR1 ZNF654 SSRP1 JUND ZNF592 ATF3 YY1 CTCF CEBPB HSALNG0020413 MAP3K20 SP3 CDCA7 ENSG00000236391 MAP3K20-AS1 piR-41995
GH02J173401 Enhancer 1 ENCODE CraniofacialAtlas 10.9 +47.4 47388 1.9 BCLAF1 ZNF654 MXD4 CTCF REST KLF11 TRIM22 ZEB1 HOMEZ SMAD4 HSALNG0020423 SP9 CDCA7 ENSG00000236391 HSALNG0020424 SP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDCA7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDCA7

Top Transcription factor binding sites by QIAGEN in the CDCA7 gene promoter:
  • aMEF-2
  • AML1a
  • C/EBPbeta
  • FOXL1
  • HOXA9
  • HOXA9B
  • MEF-2A
  • Meis-1
  • Meis-1b
  • SEF-1 (1)

Genomic Locations for CDCA7 Gene

Latest Assembly
chr2:173,354,820-173,368,997
(GRCh38/hg38)
Size:
14,178 bases
Orientation:
Plus strand

Previous Assembly
chr2:174,219,600-174,233,725
(GRCh37/hg19 by Entrez Gene)
Size:
14,126 bases
Orientation:
Plus strand

chr2:174,219,548-174,233,725
(GRCh37/hg19 by Ensembl)
Size:
14,178 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.
    SequenceCaution:
    • Sequence=CAH56357.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • CDCA7 expression is correlated with MYC expression in lymphoblastoid, lymphoma and breast cancer cell lines.

    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 Lys123, Lys131, Lys204, Lys212, Lys349, and Lys364
  • 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

Gene Families for CDCA7 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CDCA7 Gene

Suggested Antigen Peptide Sequences for CDCA7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55101, highly similar to Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 2, mRNA (B4DLP8_HUMAN)
  • cDNA FLJ54758, highly similar to Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA (B4DV66_HUMAN)
  • Protein JPO1 (CDCA7_HUMAN)
  • Cell division cycle associated 7, isoform CRA_a (D3DPD9_HUMAN)
genes like me logo Genes that share domains with CDCA7: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for CDCA7 Gene

Gene Ontology (GO) - Molecular Function for CDCA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32814053
genes like me logo Genes that share ontologies with CDCA7: view
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDCA7

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

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 IEA --
GO:0005829 cytosol 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

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

Drugs & Compounds for CDCA7 Gene

No Compound Related Data Available

Transcripts for CDCA7 Gene

mRNA/cDNA for CDCA7 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDCA7

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for CDCA7 Gene

  • Intestine(4.4)
  • Lymph node(4.4)
  • Kidney(4.4)
  • Stomach(4.2)
  • Pancreas(4.2)
  • Nervous system(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDCA7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • sinus
  • skull
  • tongue
Thorax:
  • bronchus
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
General:
  • blood
  • bone marrow
  • red blood cell
  • skin
  • white blood cell
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 29 30
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CDCA7 29
  • 90.99 (n)
-- 30
  • 88 (a)
OneToMany
-- 30
  • 87 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CDCA7 29 30
  • 85.71 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdca7 29 16 30
  • 79.55 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdca7 29
  • 79.2 (n)
Oppossum
(Monodelphis domestica)
Mammalia CDCA7 30
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CDCA7 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CDCA7 29 30
  • 65.43 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CDCA7 30
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdca7 29
  • 62.77 (n)
Str.1379 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.34018 29
Zebrafish
(Danio rerio)
Actinopterygii cdca7a 29 30
  • 58.69 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13340 29
Species where no ortholog for CDCA7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CDCA7: view image
Alliance of Genome Resources:
Additional Orthologs for CDCA7

Paralogs for CDCA7 Gene

Paralogs for CDCA7 Gene

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

  • CDCA7_HUMAN
  • B4DLP8_HUMAN
  • B4DV66_HUMAN
  • D3DPD9_HUMAN
  • F8WBA7_HUMAN

Pseudogenes.org Pseudogenes for CDCA7 Gene

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

Variants for CDCA7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDCA7 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1002120 Uncertain Significance: not provided 173,364,855(+) C/T
NM_031942.5(CDCA7):c.760C>T (p.Arg254Trp)
MISSENSE
1028419 Uncertain Significance: Immunodeficiency-centromeric instability-facial anomalies syndrome 3 173,363,344(+) C/G
NM_031942.5(CDCA7):c.503C>G (p.Ala168Gly)
MISSENSE
1046757 Uncertain Significance: not provided 173,364,864(+) C/T
NM_031942.5(CDCA7):c.769C>T (p.Arg257Cys)
MISSENSE
964462 Uncertain Significance: not provided 173,364,826(+) C/T
NM_031942.5(CDCA7):c.731C>T (p.Pro244Leu)
MISSENSE
964463 Uncertain Significance: not provided 173,364,799(+) C/G
NM_031942.5(CDCA7):c.704C>G (p.Ser235Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDCA7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CDCA7 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CDCA7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CDCA7 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for 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 JE … Dang CV (The Journal of biological chemistry 2001) 2 3 4 22
  2. Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. (PMID: 26216346) Thijssen PE … Sasaki H (Nature communications 2015) 3 4 72
  3. Drug target discovery by gene expression analysis: cell cycle genes. (PMID: 12188893) Walker MG (Current cancer drug targets 2001) 2 3 4
  4. The MYC-associated protein CDCA7 is phosphorylated by AKT to regulate MYC-dependent apoptosis and transformation. (PMID: 23166294) Gill RM … Scheid MP (Molecular and cellular biology 2013) 3 4
  5. JPO1/CDCA7, a novel transcription factor E2F1-induced protein, possesses intrinsic transcriptional regulator activity. (PMID: 16580749) Goto Y … Yoshida K (Biochimica et biophysica acta 2006) 3 4

Products for CDCA7 Gene

Sources for CDCA7 Gene