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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
  • Alliance
  • Transcription Start Sites
    7 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr4:89192710-89212856 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 4, 42.15 cM, cytoband C3-C6
  • Mapping Data
    25 experiments
Strain
Comparison
more
  • SNPs within 2kb
    38 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104738
protein coding gene Chr4:89192708-89212890 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028441
protein coding gene Chr4:89232676-89255593 (-)
A/J MGP_AJ_G0028403
protein coding gene Chr4:86090738-86111617 (-)
AKR/J MGP_AKRJ_G0028351
protein coding gene Chr4:88220274-88239813 (-)
BALB/cJ MGP_BALBcJ_G0028422
protein coding gene Chr4:86327131-86347496 (-)
C3H/HeJ MGP_C3HHeJ_G0028134
protein coding gene Chr4:88973812-88993381 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028861
protein coding gene Chr4:92597506-92621052 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026156
protein coding gene Chr4:82004249-82024937 (-)
CAST/EiJ MGP_CASTEiJ_G0027575
protein coding gene Chr4:86805376-86833109 (-)
CBA/J MGP_CBAJ_G0028104
protein coding gene Chr4:95479488-95507053 (-)
DBA/2J MGP_DBA2J_G0028254
protein coding gene Chr4:85838095-85862193 (-)
FVB/NJ MGP_FVBNJ_G0028221
protein coding gene Chr4:84778100-84800584 (-)
LP/J MGP_LPJ_G0028354
protein coding gene Chr4:89506886-89527934 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028250
protein coding gene Chr4:100444076-100465490 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028899
protein coding gene Chr4:88372412-88393991 (-)
PWK/PhJ MGP_PWKPhJ_G0027299
protein coding gene Chr4:84140743-84162981 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027120
protein coding gene Chr4:85896231-85919114 (-)
WSB/EiJ MGP_WSBEiJ_G0027653
protein coding gene Chr4:88579020-88602224 (-)



Homology
more
  • Human Ortholog
    CDKN2A, cyclin dependent kinase inhibitor 2A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CDKN2A, cyclin dependent kinase inhibitor 2A
  • Synonyms
    ARF, CAI2, 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
    UniProt: P42771, Q8N726

  • Chr Location
    9p21.3; chr9:21967752-21995324 (-)  GRCh38

Human Diseases
more
  • Diseases
    29 with human CDKN2A associations

Human Disease Mouse Models
      
IDs
IDs
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IDs
IDs
View 1 "NOT" model
IDs
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IDs
IDs
IDs
View 3 models
IDs
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View 5 models
IDs
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View 1 model
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View 1 model
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View 5 models
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Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    23 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    73 phenotypes from 16 alleles in 18 genetic backgrounds
    133 phenotypes from multigenic genotypes
    8 images
    709 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
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
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12578 NCBI Gene Model | MGI Sequence Detail 20147 C57BL/6J ±  kb
    transcript NM_009877 RefSeq | MGI Sequence Detail 929 Not Specified  
    polypeptide Q64364 UniProt | EBI | MGI Sequence Detail 169 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 92
      Genomic 11
      cDNA 41
      Primer pair 37
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-23975, MGD-MRK-27101, MGI:103111
    References
    more
    • Summaries
      All 1055
      Developmental Gene Expression 119
      Diseases 23
      Gene Ontology 35
      Phenotypes 709
    • 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:345596 Yang F, et al., An immunosuppressive vascular niche drives macrophage polarization and immunotherapy resistance in glioblastoma. Sci Adv. 2024 Mar;10(9):eadj4678

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    last database update
    04/02/2024
    MGI 6.23
    The Jackson Laboratory