CDK2AP1 Gene (Protein Coding)

Cyclin Dependent Kinase 2 Associated Protein 1

GC12M123260
GIFtS:
40
The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role i... See more...

Aliases for CDK2AP1 Gene

Aliases for CDK2AP1 Gene

  • Cyclin Dependent Kinase 2 Associated Protein 1 2 3 5
  • CDK2-Associated Protein 1 2 3 4
  • Cyclin-Dependent Kinase 2-Associated Protein 1 3 4
  • Putative Oral Cancer Suppressor 3 4
  • Deleted In Oral Cancer 1 3 4
  • DOC1 3 4
  • Deleted In Oral Cancer-1 3
  • P12DOC-1 3
  • CDKAP1 4
  • DORC1 3
  • Doc-1 3
  • DOC-1 4
  • ST19 3

External Ids for CDK2AP1 Gene

Previous GeneCards Identifiers for CDK2AP1 Gene

  • GC12P122351
  • GC12M123446
  • GC12M123553
  • GC12M122183
  • GC12M122270
  • GC12M123745
  • GC12M120706

Summaries for CDK2AP1 Gene

Entrez Gene Summary for CDK2AP1 Gene

  • The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]

GeneCards Summary for CDK2AP1 Gene

CDK2AP1 (Cyclin Dependent Kinase 2 Associated Protein 1) is a Protein Coding gene. Diseases associated with CDK2AP1 include Oral Cancer and Campylobacteriosis. Gene Ontology (GO) annotations related to this gene include DNA polymerase binding. An important paralog of this gene is CDK2AP2.

UniProtKB/Swiss-Prot Summary for CDK2AP1 Gene

Gene Wiki entry for CDK2AP1 Gene

Additional gene information for CDK2AP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDK2AP1 Gene

Genomics for CDK2AP1 Gene

GeneHancer (GH) Regulatory Elements for CDK2AP1 Gene

Promoters and enhancers for CDK2AP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDK2AP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDK2AP1

Top Transcription factor binding sites by QIAGEN in the CDK2AP1 gene promoter:
  • CP2
  • E47
  • GATA-1
  • ITF-2
  • STAT1alpha
  • STAT1beta
  • STAT2
  • Tal-1
  • Tal-1beta
  • TBP

Genomic Locations for CDK2AP1 Gene

Genomic Locations for CDK2AP1 Gene
chr12:123,250,112-123,272,334
(GRCh38/hg38)
Size:
22,223 bases
Orientation:
Minus strand
chr12:123,745,528-123,756,881
(GRCh37/hg19)
Size:
11,354 bases
Orientation:
Minus strand

Genomic View for CDK2AP1 Gene

Genes around CDK2AP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDK2AP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDK2AP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CDK2AP1 Gene

Proteins for CDK2AP1 Gene

Products:

  1. Antibody
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  • Protein details for CDK2AP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14519-CDKA1_HUMAN
    Recommended name:
    Cyclin-dependent kinase 2-associated protein 1
    Protein Accession:
    O14519
    Secondary Accessions:
    • F5GYA4

    Protein attributes for CDK2AP1 Gene

    Size:
    115 amino acids
    Molecular mass:
    12365 Da
    Quaternary structure:
    • Homodimer (PubMed:22427660). Interacts with monomeric unphosphorylated CDK2 (By similarity). Interacts with CDK2AP2 (PubMed:14985111).

    Three dimensional structures from OCA and Proteopedia for CDK2AP1 Gene

    Alternative splice isoforms for CDK2AP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDK2AP1 Gene

Protein Expression for CDK2AP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CDK2AP1 Gene

Other Protein References for CDK2AP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CDK2AP1 Gene

Domains & Families for CDK2AP1 Gene

Gene Families for CDK2AP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CDK2AP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDK2AP1 Gene

GenScript: Design optimal peptide antigens:
  • Putative oral cancer suppressor (CDKA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14519

UniProtKB/Swiss-Prot:

CDKA1_HUMAN :
  • Belongs to the CDK2AP family.
Family:
  • Belongs to the CDK2AP family.
genes like me logo Genes that share domains with CDK2AP1: view

Function for CDK2AP1 Gene

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  2. CRISPR
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Molecular function for CDK2AP1 Gene

UniProtKB/Swiss-Prot Function:
specific inhibitor of the cell-cycle kinase CDK2.

Phenotypes From GWAS Catalog for CDK2AP1 Gene

Gene Ontology (GO) - Molecular Function for CDK2AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14985111
GO:0070182 DNA polymerase binding IPI 9506968
genes like me logo Genes that share ontologies with CDK2AP1: view
genes like me logo Genes that share phenotypes with CDK2AP1: view

Animal Models for CDK2AP1 Gene

MGI Knock Outs for CDK2AP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK2AP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CDK2AP1 Gene

Localization for CDK2AP1 Gene

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 CDK2AP1 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 3
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CDK2AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 9506968
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0048471 perinuclear region of cytoplasm IDA 9506968
genes like me logo Genes that share ontologies with CDK2AP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CDK2AP1 Gene

Pathways & Interactions for CDK2AP1 Gene

PathCards logo

SuperPathways for CDK2AP1 Gene

No Data Available

Pathways by source for CDK2AP1 Gene

1 GeneTex pathway for CDK2AP1 Gene

Gene Ontology (GO) - Biological Process for CDK2AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IDA 9506968
GO:0006261 DNA-dependent DNA replication NAS 9506968
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with CDK2AP1: view

No data available for SIGNOR curated interactions for CDK2AP1 Gene

Drugs & Compounds for CDK2AP1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CDK2AP1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CDK2AP1 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK2AP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDK2AP1 Gene

No ASD Table

Relevant External Links for CDK2AP1 Gene

GeneLoc Exon Structure for
CDK2AP1

Expression for CDK2AP1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDK2AP1 Gene

mRNA expression in normal human tissues for CDK2AP1 Gene
mRNA expression by BioGPS for CDK2AP1 GenemRNA expression by GTEx for CDK2AP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CDK2AP1 Gene

This gene is overexpressed in Fetal ovary (50.5) and Peripheral blood mononuclear cells (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDK2AP1 Gene



Protein tissue co-expression partners for CDK2AP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDK2AP1

SOURCE GeneReport for Unigene cluster for CDK2AP1 Gene:

Hs.433201

Evidence on tissue expression from TISSUES for CDK2AP1 Gene

  • Skin(4.4)
  • Nervous system(3)
  • Bone(2.2)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with CDK2AP1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDK2AP1 Gene

Orthologs for CDK2AP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CDK2AP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CDK2AP1 31 30
  • 99.32 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gm12184 31
  • 98 (a)
 OneToMany
Cdk2ap1 17 31 30
  • 87.72 (n)
dog
(Canis familiaris)
 Mammalia CDK2AP1 31 30
  • 90.72 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CDK2AP1 31
  • 90 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia CDK2AP1 31 30
  • 89.86 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cdk2ap1 30
  • 88.6 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CDK2AP1 31
  • 87 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CDK2AP1 31 30
  • 77.97 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CDK2AP1 31
  • 91 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cdk2ap1 30
  • 73.33 (n)
Str.6181 30
African clawed frog
(Xenopus laevis)
 Amphibia cdk2ap1-prov 30
zebrafish
(Danio rerio)
 Actinopterygii LOC100535265 30
  • 71.65 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG18292 31
  • 19 (a)
 OneToMany
Species where no ortholog for CDK2AP1 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 CDK2AP1 Gene

ENSEMBL:
Gene Tree for CDK2AP1 (if available)
TreeFam:
Gene Tree for CDK2AP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDK2AP1: view image

Paralogs for CDK2AP1 Gene

Paralogs for CDK2AP1 Gene

(2) SIMAP similar genes for CDK2AP1 Gene using alignment to 2 proteins:

  • CDKA1_HUMAN
  • F5GZF0_HUMAN

Pseudogenes.org Pseudogenes for CDK2AP1 Gene

genes like me logo Genes that share paralogs with CDK2AP1: view

Variants for CDK2AP1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDK2AP1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
776771 Benign: not provided 123,265,287(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
782568 Benign: not provided 123,265,305(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CDK2AP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CDK2AP1 Gene

Variant ID Type Subtype PubMed ID
dgv884n106 CNV deletion 24896259
nsv1070138 CNV deletion 25765185
nsv826532 CNV gain 20364138

Variation tolerance for CDK2AP1 Gene

Residual Variation Intolerance Score: 58.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDK2AP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDK2AP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK2AP1 Gene

Disorders for CDK2AP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CDK2AP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
oral cancer
  • lip and oral cavity carcinoma
campylobacteriosis
  • campylobacter infections
salmonellosis
  • salmonella infection
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDK2AP1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CDK2AP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDK2AP1 Gene

Publications for CDK2AP1 Gene

  1. Cloning, mapping, expression, function, and mutation analyses of the human ortholog of the hamster putative tumor suppressor gene Doc-1. (PMID: 9506968) Tsuji T … Wong DT (The Journal of biological chemistry 1998) 2 3 4 23 54
  2. Isolation, mapping and mutation analysis of a human cDNA homologous to the doc-1 gene of the Chinese hamster, a candidate tumor suppressor for oral cancer. (PMID: 9331572) Daigo Y … Nakamura Y (Genes, chromosomes & cancer 1997) 2 3 4 54
  3. Human cyclin-dependent kinase 2-associated protein 1 (CDK2AP1) is dimeric in its disulfide-reduced state, with natively disordered N-terminal region. (PMID: 22427660) Ertekin A … Montelione GT (The Journal of biological chemistry 2012) 3 4 54
  4. Interaction of the CDK2-associated protein-1, p12(DOC-1/CDK2AP1), with its homolog, p14(DOC-1R). (PMID: 14985111) Buajeeb W … Wong DT (Biochemical and biophysical research communications 2004) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

ExternalLinks

View latest publications for CDK2AP1 gene in Mastermind

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