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    CDCA7 cell division cycle associated 7 [ Homo sapiens (human) ]

    Gene ID: 83879, updated on 5-Mar-2024

    Summary

    Official Symbol
    CDCA7provided by HGNC
    Official Full Name
    cell division cycle associated 7provided by HGNC
    Primary source
    HGNC:HGNC:14628
    See related
    Ensembl:ENSG00000144354 MIM:609937; AllianceGenome:HGNC:14628
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ICF3; JPO1
    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, 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]
    Expression
    Broad expression in lymph node (RPKM 15.2), duodenum (RPKM 15.1) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2q31.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (173354872..173368997)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (173841091..173855221)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (174219600..174233725)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:174164665-174165864 Neighboring gene ribosomal protein S2 pseudogene 18 Neighboring gene cytochrome c oxidase subunit 7B pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:174218644-174219599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:174280529-174281037 Neighboring gene uncharacterized LOC105373744 Neighboring gene JPT1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Immunodeficiency-centromeric instability-facial anomalies syndrome 3
    MedGen: C4310799 OMIM: 616910 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of chronic otitis media with effusion and recurrent otitis media identifies a novel susceptibility locus on chromosome 2.
    EBI GWAS Catalog
    Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes.
    EBI GWAS Catalog
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14722, FLJ14736, MGC34109

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cell division cycle-associated protein 7
    Names
    c-Myc target JPO1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047202.1 RefSeqGene

      Range
      5856..19981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_031942.5NP_114148.3  cell division cycle-associated protein 7 isoform 1

      See identical proteins and their annotated locations for NP_114148.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC092573, AY029179, BC015124, DA531905
      Consensus CDS
      CCDS2252.1
      UniProtKB/TrEMBL
      A0A8Q3WKV4
      Related
      ENSP00000306968.3, ENST00000306721.8
      Conserved Domains (1) summary
      pfam10497
      Location:341439
      zf-4CXXC_R1; Zinc-finger domain of monoamine-oxidase A repressor R1
    2. NM_145810.3NP_665809.1  cell division cycle-associated protein 7 isoform 2

      See identical proteins and their annotated locations for NP_665809.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding segment compared to variant 1. The resulting isoform (2) lacks an internal region, as compared to isoform 1.
      Source sequence(s)
      AC092573, AY029179, BC015124
      Consensus CDS
      CCDS2253.1
      UniProtKB/Swiss-Prot
      B4DLP8, B4DV66, Q53EW5, Q580W9, Q658K4, Q658N4, Q8NBY9, Q96BV8, Q96SP5, Q9BWT1
      UniProtKB/TrEMBL
      A0A8Q3SIB2
      Related
      ENSP00000272789.4, ENST00000347703.7
      Conserved Domains (1) summary
      pfam10497
      Location:266360
      zf-4CXXC_R1; Zinc-finger domain of monoamine-oxidase A repressor R1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      173354872..173368997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445957.1XP_047301913.1  cell division cycle-associated protein 7 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      173841091..173855221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344112.1XP_054200087.1  cell division cycle-associated protein 7 isoform X1