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

Gene ID: 12578, updated on 7-Feb-2023

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 MDM2/MDM4 family protein binding activity; enzyme inhibitor activity; and protein N-terminus binding activity. Involved in several processes, including negative regulation of lymphocyte proliferation; positive regulation of apoptotic process; and regulation of transcription, DNA-templated. Acts upstream of or within several processes, including negative regulation of cellular protein metabolic process; negative regulation of mammary gland epithelial cell proliferation; and positive regulation of apoptotic process involved in mammary gland involution. Located in cytoplasm and granular component. Part of protein-containing complex. Is expressed in several structures, including bone marrow; central nervous system; dorsal root ganglion; eye; and testis. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); carcinoma (multiple); hematologic cancer (multiple); melanoma (multiple); and nervous system cancer (multiple). Orthologous to human CDKN2A (cyclin dependent kinase inhibitor 2A). [provided by Alliance of Genome Resources, Apr 2022]
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
109 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 predicted gene 12610 Neighboring gene cyclin dependent kinase inhibitor 2B Neighboring gene VISTA enhancer mm10

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

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables MDM2/MDM4 family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables MDM2/MDM4 family protein binding ISO
Inferred from Sequence Orthology
more info
 
enables NF-kappaB binding ISO
Inferred from Sequence Orthology
more info
 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables SUMO transferase activity ISO
Inferred from Sequence Orthology
more info
 
enables cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cyclin-dependent protein serine/threonine kinase inhibitor activity ISO
Inferred from Sequence Orthology
more info
PubMed 
enables disordered domain specific binding ISO
Inferred from Sequence Orthology
more info
 
enables p53 binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin ligase inhibitor activity ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin-protein transferase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within aging IMP
Inferred from Mutant Phenotype
more info
PubMed 
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_or_within apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
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 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 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 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 kinase activity ISO
Inferred from Sequence Orthology
more info
 
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 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 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
 
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 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 destabilization ISO
Inferred from Sequence Orthology
more info
 
involved_in protein polyubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in protein stabilization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within 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 G2/M 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 organonitrogen 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 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 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)

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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_001040654.1NP_001035744.1  cyclin-dependent kinase inhibitor 2A 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
    P51480, 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 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
    Q64364, 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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)