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Cdkn1c Gene Detail
Summary
  • Symbol
    Cdkn1c
  • Name
    cyclin dependent kinase inhibitor 1C
  • Synonyms
    CDKI, Kip2, p57Kip2
  • Feature Type
    protein coding gene
  • IDs
    MGI:104564
    NCBI Gene: 12577
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:143012076-143014735 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 88.22 cM
  • Mapping Data
    20 experiments
Strain
Comparison
more
  • SNPs within 2kb
    61 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104564
 protein coding gene Chr7:143012076-143014787 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033272
 protein coding gene Chr7:148753583-148756283 (-)
A/J MGP_AJ_G0033255
 protein coding gene Chr7:144441057-144443757 (-)
AKR/J MGP_AKRJ_G0033186
 protein coding gene Chr7:148491546-148494246 (-)
BALB/cJ MGP_BALBcJ_G0033255
 protein coding gene Chr7:144226324-144229024 (-)
C3H/HeJ MGP_C3HHeJ_G0032971
 protein coding gene Chr7:148255806-148258506 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033765
 protein coding gene Chr7:154124303-154127003 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030738
 protein coding gene Chr7:145653328-145656028 (-)
CAST/EiJ MGP_CASTEiJ_G0032293
 protein coding gene Chr7:140569429-140572129 (-)
CBA/J MGP_CBAJ_G0032942
 protein coding gene Chr7:159383632-159386332 (-)
DBA/2J MGP_DBA2J_G0033096
 protein coding gene Chr7:142413449-142416149 (-)
FVB/NJ MGP_FVBNJ_G0033044
 protein coding gene Chr7:142342453-142345153 (-)
LP/J MGP_LPJ_G0033188
 protein coding gene Chr7:150279354-150282054 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033078
 protein coding gene Chr7:159977521-159980221 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033785
 protein coding gene Chr7:147460543-147463243 (-)
PWK/PhJ MGP_PWKPhJ_G0032002
 protein coding gene Chr7:135726796-135729473 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031848
 protein coding gene Chr7:134272171-134274871 (-)
WSB/EiJ MGP_WSBEiJ_G0032405
 protein coding gene Chr7:148463828-148466528 (-)



Homology
more
  • Human Ortholog
    CDKN1C, cyclin dependent kinase inhibitor 1C
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CDKN1C, cyclin dependent kinase inhibitor 1C
  • Synonyms
    BWCR, BWS, KIP2, p57, p57Kip2, WBS
  • Links
    NCBI Gene ID: 1028
    neXtProt AC: NX_P49918
    UniProt: P49918

  • Chr Location
    11p15.4; chr11:2883213-2885775 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cdkn1c mouse models; 3 with human CDKN1C associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    107 phenotypes from 6 alleles in 14 genetic backgrounds
    69 phenotypes from multigenic genotypes
    5 images
    68 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.
Homozygous mutants or heterozygotes with a mutant maternal allele have developmental defects including cleft palate, gastrointestinal defects and short limbs. Most mutants die at birth; survivors are growth retarded and have immature reproductive systems.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    48
  • GO References
    12
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
membraneless 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
    1594
  • Tissues
    475
  • cDNA Data
    206
  • Literature Summary
    321
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12577 NCBI Gene Model | MGI Sequence Detail 2660 C57BL/6J ±  kb
    transcript NM_001412230 RefSeq | MGI Sequence Detail 1926 ZRU/MplStud  
    polypeptide P49919 UniProt | EBI | MGI Sequence Detail 348 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000005275 cyclin-dependent kinase inhibitor 1C
      (term hierarchy)
    • InterPro Domains
      IPR003175 Cyclin-dependent kinase inhibitor domain
      IPR044898 Cyclin-dependent kinase inhibitor domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 275
      Genomic 24
      cDNA 208
      Primer pair 34
      Other 9

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-25998, MGI:2142098
    References
    more
    • Summaries
      All 417
      Developmental Gene Expression 321
      Diseases 7
      Gene Ontology 12
      Phenotypes 68
    • Earliest
      J:10529 Bastian H, et al., A murine even-skipped homologue, Evx 1, is expressed during early embryogenesis and neurogenesis in a biphasic manner [published erratum appears in EMBO J 1991 Dec;10(12):3978]. EMBO J. 1990 Jun;9(6):1839-52
    • Latest
      J:349865 Carabana C, et al., Spatially distinct epithelial and mesenchymal cell subsets along progressive lineage restriction in the branching embryonic mammary gland. EMBO J. 2024 Jun;43(12):2308-2336
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory