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Cdkn2a Gene Detail
Summary
  • Symbol
    Cdkn2a
  • Name
    cyclin-dependent kinase inhibitor 2A
  • Synonyms
    Arf, ARF-INK4a, Ink4a/Arf, INK4a-ARF, MTS1, p16, p16INK4a, p19ARF, p19ARF, Pctr1
  • Feature Type
    protein coding gene
  • IDs
    MGI:104738
    NCBI Gene: 12578
  • Gene Overview
    MyGene.info: CDKN2A
Location & Maps
more
  • Sequence Map
    Chr4:89274471-89294653 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20183 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 42.15 cM, cytoband C3-C6
  • Mapping Data
    25 experiments
Homology
more
  • Human Ortholog
    CDKN2A, cyclin dependent kinase inhibitor 2A
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CDKN2A, cyclin dependent kinase inhibitor 2A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARF, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS1, MTS-1, P14, P14ARF, P16, P16INK4, P16INK4A, P16-INK4A, P19, P19ARF, TP16
  • Links
    NCBI Gene ID: 1029
    neXtProt AC: NX_P42771, NX_Q8N726

  • Chr Location
    9p21; chr9:21967752-21995043 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Cdkn2a mouse models; 3 with human CDKN2A associations

Human Disease Mouse Models
       Melanoma, Cutaneous Malignant, Susceptibility to, 2; CMM2   OMIM: 155601 View 1 "NOT" model
       Oculopalatocerebral Syndrome   OMIM: 257910 View 1 model
       Melanoma-Astrocytoma Syndrome   OMIM: 155755
Melanoma-Pancreatic Cancer Syndrome   OMIM: 606719
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    19 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    71 phenotypes from 15 alleles in 17 genetic backgrounds
    130 phenotypes from multigenic genotypes
    8 images
    466 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    29
  • Chemically induced (other)
    2
  • QTL
    2
  • Radiation induced
    1
  • Targeted
    23
  • Transgenic
    1
  • Genomic Mutations
    5 involving Cdkn2a
  • Incidental Mutations
Null mutants of p16INK4a or p19ARF proteins each show increased tumor susceptibility and sensitivity to carcinogens. Loss of both gives very early onset. p19ARF nulls also show thymic hyperplasia and the eye's hyaloid vascular system fails to regress.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007706 VEGA Gene Model | MGI Sequence Detail 20183 C57BL/6J ±  kb
transcript OTTMUST00000017645 VEGA | MGI Sequence Detail 895 Not Applicable  
polypeptide OTTMUSP00000008144 VEGA | MGI Sequence Detail 169 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    38 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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Molecular
Reagents
less
  • All nucleic 65
    Genomic 11
    cDNA 39
    Primer pair 12
    Other 3

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-23975, MGD-MRK-27101, MGI:103111
References
more
  • Summaries
    All 674
    Developmental Gene Expression 79
    Diseases 19
    Gene Ontology 29
    Phenotypes 466
  • Earliest
    J:16958 Potter M, et al., Identification of two genes on chromosome 4 that determine resistance to plasmacytoma induction in mice. Cancer Res. 1994 Feb 15;54(4):969-75
  • Latest
    J:234210 Dodd RD, et al., Myogenic transcription factors regulate pro-metastatic miR-182. Oncogene. 2016 Apr 7;35(14):1868-75

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory