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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
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Genomic context

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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

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