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    Cdkn2a cyclin dependent kinase inhibitor 2A [ Mus musculus (house mouse) ]

    Gene ID: 12578, updated on 10-Dec-2024

    Summary

    Official Symbol
    Cdkn2aprovided by MGI
    Official Full Name
    cyclin dependent kinase inhibitor 2Aprovided by MGI
    Primary source
    MGI:MGI:104738
    See related
    Ensembl:ENSMUSG00000044303 AllianceGenome:MGI:104738
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Arf; p16; MTS1; Pctr1; p19ARF; p16INK4a; p19<ARF>; ARF-INK4a; INK4a-ARF; Ink4a/Arf; p16(INK4a)
    Summary
    Enables DNA-binding transcription factor binding activity; MDM2/MDM4 family protein binding activity; and enzyme inhibitor activity. Involved in several processes, including negative regulation of lymphocyte proliferation; positive regulation of apoptotic process; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including keratinocyte proliferation; negative regulation of mammary gland epithelial cell proliferation; and negative regulation of protein metabolic process. Located in cytoplasm and granular component. Part of protein-containing complex. Is expressed in several structures, including central nervous system; eye; genitourinary system; immune system; and umbilical artery. Used to study high grade glioma; malignant peripheral nerve sheath tumor; melanoma (multiple); and pancreatic carcinoma (multiple). Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); carcinoma (multiple); hematologic cancer (multiple); high grade glioma (multiple); and melanoma (multiple). Orthologous to human CDKN2A (cyclin dependent kinase inhibitor 2A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in placenta adult (RPKM 11.1), testis adult (RPKM 4.1) and 7 other tissues See more
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    Genomic context

    See Cdkn2a in Genome Data Viewer
    Location:
    4 C4; 4 42.15 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (89192710..89212856, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (89274473..89294619, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26490 Neighboring gene TGFB-induced factor homeobox 2, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_10736 Neighboring gene STARR-seq mESC enhancer starr_10737 Neighboring gene STARR-positive B cell enhancer ABC_E1646 Neighboring gene STARR-seq mESC enhancer starr_10738 Neighboring gene STARR-positive B cell enhancer ABC_E11246 Neighboring gene predicted gene 12610 Neighboring gene STARR-seq mESC enhancer starr_10739 Neighboring gene STARR-seq mESC enhancer starr_10740 Neighboring gene cyclin dependent kinase inhibitor 2B Neighboring gene VISTA enhancer mm10 Neighboring gene STARR-seq mESC enhancer starr_10741 Neighboring gene heat shock protein 1 (chaperonin) pseudogene 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    plasmacytoma resistance 1
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in amyloid fibril formation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in apoptotic mitochondrial changes ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of apoptotic process involved in mammary gland involution IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy of mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to hydrogen peroxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cellular senescence IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cellular senescence IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular senescence ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within epidermis development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within epidermis development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within keratinocyte differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within keratinocyte proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of mammary gland epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrial depolarization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of B cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of NF-kappaB transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell growth ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of cyclin-dependent protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of hepatocyte proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of immature T cell proliferation in thymus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of mammary gland epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein localization to nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein neddylation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of proteolysis involved in protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of proteolysis involved in protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of ribosome biogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nuclear body organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within oncogene-induced cell senescence IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within oncogene-induced cell senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within positive regulation of apoptotic process involved in mammary gland involution IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of macrophage apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein localization to nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein sumoylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of signal transduction by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of smooth muscle cell apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein K63-linked ubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein K63-linked ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein destabilization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein polyubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein stabilization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within rRNA transcription IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of DNA-binding transcription factor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of G1/S transition of mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of apoptotic DNA fragmentation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of nucleocytoplasmic transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of protein export from nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein targeting to mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in replicative senescence ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to organic cyclic compound ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to xenobiotic stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in somatic stem cell division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within somatic stem cell population maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in granular component IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in senescence-associated heterochromatin focus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    cyclin-dependent kinase inhibitor 2A
    Names
    CDK4I
    alternative reading frame
    cyclin-dependent kinase 4 inhibitor A
    cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4)
    cyclin-dependent kinase inhibitor protein
    mitochondrial smARF
    p16-INK4
    p16-INK4a

    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.

    mRNA and Protein(s)

    1. NM_001040654.1NP_001035744.1  cyclin-dependent kinase inhibitor 2A isoform p16INK4a

      See identical proteins and their annotated locations for NP_001035744.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate open reading frame, when compared to variant 1. Transcripts 1 and 2, encoding p19ARF and p16INK4a, have distinct first exons which contain the translation start codon, and share a common second exon, which is translated in different reading frames. Thus, the p16INK4a protein encoded by this variant (2) lacks sequence similarity to the protein product of variant 1 (p19ARF).
      Source sequence(s)
      AL831719, L76150
      Consensus CDS
      CCDS38812.1
      UniProtKB/Swiss-Prot
      A2ANM1, A2ANM2, O89088, P51480, P97510, P97937, Q6PEA2, Q78E39, Q78E57, Q792X7, Q9QWH6, Q9QWH7, Q9QWH8
      Related
      ENSMUSP00000061847.4, ENSMUST00000060501.5
      Conserved Domains (3) summary
      cd00204
      Location:15122
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:14100
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:3666
      ANK; ANK repeat [structural motif]
    2. NM_009877.2NP_034007.1  cyclin-dependent kinase inhibitor 2A isoform p19ARF

      See identical proteins and their annotated locations for NP_034007.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1, also known as p19ARF) and contains an alternate open reading frame (ARF), when compared to variant 2. Transcripts 1 and 2, encoding p19ARF and p16INK4a, have distinct first exons which contain the translation start codon, and share a common second exon, which is translated in different reading frames. Thus, the p19ARF protein encoded by this variant (1) lacks sequence similarity to the protein product of variant 2 (p16INK4a).
      Source sequence(s)
      AL831719, L76092
      Consensus CDS
      CCDS18350.1
      UniProtKB/Swiss-Prot
      Q4U255, Q64364, Q9QXC7, Q9R051
      Related
      ENSMUSP00000102748.3, ENSMUST00000107131.2
      Conserved Domains (1) summary
      pfam07392
      Location:445
      P19Arf_N; Cyclin-dependent kinase inhibitor 2a p19Arf N-terminus

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      89192710..89212856 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)