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    CDK2AP2 cyclin dependent kinase 2 associated protein 2 [ Homo sapiens (human) ]

    Gene ID: 10263, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CDK2AP2provided by HGNC
    Official Full Name
    cyclin dependent kinase 2 associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:30833
    See related
    Ensembl:ENSG00000167797 MIM:620061; AllianceGenome:HGNC:30833
    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
    p14; DOC1R; DOC-1R
    Summary
    This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 21.4), adrenal (RPKM 15.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDK2AP2 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67506497..67508162, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67501174..67502839, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67273968..67275633, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene aryl hydrocarbon receptor interacting protein Neighboring gene microRNA 6752 Neighboring gene phosphatidylinositol transfer protein membrane associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67270543-67271292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67271293-67272042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3644 Neighboring gene calcium binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67297117-67297895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67297896-67298673 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:67330455-67331654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5109 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:67351053-67351195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3646 Neighboring gene glutathione S-transferase pi 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification and mutation analysis of DOC-1R, a DOC-1 growth suppressor-related gene. Zhang X, et al. Biochem Biophys Res Commun, 1999 Feb 5. PMID 10082655
    2. Interaction of the CDK2-associated protein-1, p12(DOC-1/CDK2AP1), with its homolog, p14(DOC-1R). Buajeeb W, et al. Biochem Biophys Res Commun, 2004 Mar 19. PMID 14985111
    3. Overexpression of DOC-1R inhibits cell cycle G1/S transition by repressing CDK2 expression and activation. Liu Q, et al. Int J Biol Sci, 2013. PMID 23781148, Free PMC Article
    4. Dysregulation of CDK inhibitors and p53 in HPV-negative endocervical adenocarcinoma. Omori M, et al. Int J Gynecol Pathol, 2015 Mar. PMID 25675191
    5. Cross-linking mass spectrometry reveals the structural topology of peripheral NuRD subunits relative to the core complex. Spruijt CG, et al. FEBS J, 2021 May. PMID 33283408, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10636, FLJ98766

    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 negative regulation of G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of microtubule cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of stem cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of NuRD complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule ISS
    Inferred from Sequence or Structural Similarity
    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 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cyclin-dependent kinase 2-associated protein 2
    Names
    CDK2-associated protein 2
    DOC-1-related protein
    tumor suppressor deleted in oral cancer related 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001271849.2 → NP_001258778.1  cyclin-dependent kinase 2-associated protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001258778.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK310197, BQ016039, CB988039
      Conserved Domains (1) summary
      pfam09806
      Location:18 → 70
      CDK2AP; Cyclin-dependent kinase 2-associated protein

    2. NM_005851.5 → NP_005842.1  cyclin-dependent kinase 2-associated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_005842.1

      Status: REVIEWED

      Source sequence(s)
      AP001184
      Consensus CDS
      CCDS8169.1
      UniProtKB/Swiss-Prot
      O75956
      UniProtKB/TrEMBL
      E9PKR4, Q6IAV4
      Related
      ENSP00000301488.4, ENST00000301488.8
      Conserved Domains (2) summary
      TIGR00601
      Location:5 → 106
      rad23; UV excision repair protein Rad23
      pfam09806
      Location:73 → 125
      CDK2AP; Cyclin-dependent kinase 2-associated protein

    RNA

    1. NR_073484.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF.
      Source sequence(s)
      BI763791, BM559572, BQ016039, CB988039

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      67506497..67508162 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67501174..67502839 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75956.1 GenPept UniProtKB/Swiss-Prot:O75956

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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