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CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) [ Homo sapiens (human) ]

Gene ID: 1031, updated on 19-Jul-2014
Official Symbol
CDKN2Cprovided by HGNC
Official Full Name
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)provided by HGNC
Primary source
HGNC:1789
Locus tag
RP11-278J17.2
See related
Ensembl:ENSG00000123080; HPRD:04534; MIM:603369; Vega:OTTHUMG00000008046
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
p18; INK4C; p18-INK4C
Summary
The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
See CDKN2C in Epigenomics, MapViewer
Location:
1p32
Exon count :
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (50968695..50974637)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (51434367..51440309)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Fas (TNFRSF6) associated factor 1 Neighboring gene prohibitin pseudogene 12 Neighboring gene mitochondrial ribosomal protein S6 pseudogene 2 Neighboring gene chromosome 1 open reading frame 185 Neighboring gene microRNA 4421 Neighboring gene microRNA 6500

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
NHGRI GWA Catalog
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Cell cycle, organism-specific biosystem (from KEGG)
    Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cell cycle, conserved biosystem (from KEGG)
    Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Cyclin D associated events in G1, organism-specific biosystem (from REACTOME)
    Cyclin D associated events in G1, organism-specific biosystemThree D-type cyclins are essential for progression from G1 to S-phase. These D cyclins bind to and activate both CDK4 and CDK6. The formation of all possible complexes between the D-type cyclins and...
  • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    E2F transcription factor network, organism-specific biosystem
    E2F transcription factor network
  • G1 Phase, organism-specific biosystem (from REACTOME)
    G1 Phase, organism-specific biosystemEarly cell cycle progression in G1 is under the control of the D-type cyclins together with Cdk4 and Cdk6. An important target for these CDKs is the Retinoblastoma (Rb) protein, which when phosphoryl...
  • G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
    G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
    Mitotic G1-G1/S phases, organism-specific biosystem
    Mitotic G1-G1/S phases
  • Oncogene Induced Senescence, organism-specific biosystem (from REACTOME)
    Oncogene Induced Senescence, organism-specific biosystemOncogene-induced senescence is triggered by high level of RAS/RAF/MAPK signaling that can be caused, for example, by oncogenic mutations in RAS or RAF proteins, or by oncogenic mutations in growth fa...
  • Oxidative Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    Oxidative Stress Induced Senescence, organism-specific biosystemOxidative stress, caused by increased concentration of reactive oxygen species (ROS) in the cell, can happen as a consequence of mitochondrial dysfunction induced by the oncogenic RAS (Moiseeva et al...
  • Senescence-Associated Secretory Phenotype (SASP), organism-specific biosystem (from REACTOME)
    Senescence-Associated Secretory Phenotype (SASP), organism-specific biosystemThe culture medium of senescent cells in enriched in secreted proteins when compared with the culture medium of quiescent i.e. presenescent cells and these secreted proteins constitute the so-called ...
  • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
    Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
  • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
    Transcriptional misregulation in cancer, organism-specific biosystem
    Transcriptional misregulation in cancer
  • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
    Transcriptional misregulation in cancer, conserved biosystem
    Transcriptional misregulation in cancer
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cyclin-dependent kinase 4 inhibitor C
Names
cyclin-dependent kinase 4 inhibitor C
p18-INK6
CDK6 inhibitor p18
cyclin-dependent inhibitor
cyclin-dependent kinase 6 inhibitor p18

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_001262.2NP_001253.1  cyclin-dependent kinase 4 inhibitor C

    See proteins identical to NP_001253.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains a different 5' UTR region, and encodes an identical protein, when compared to variant 2.
    Source sequence(s)
    AF041248
    Consensus CDS
    CCDS555.1
    UniProtKB/Swiss-Prot
    P42773
    UniProtKB/TrEMBL
    Q6ICV4
    Related
    ENSP00000379452, ENST00000396148
    Conserved Domains (2) summary
    cd00204
    Location:37156
    Blast Score: 261
    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:74161
    Blast Score: 166
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_078626.2NP_523240.1  cyclin-dependent kinase 4 inhibitor C

    See proteins identical to NP_523240.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a different 5' UTR region, and encodes an identical protein, when compared to variant 1.
    Source sequence(s)
    BE783451, BE831176, U17074
    Consensus CDS
    CCDS555.1
    UniProtKB/Swiss-Prot
    P42773
    UniProtKB/TrEMBL
    Q6ICV4
    Related
    ENSP00000360826, OTTHUMP00000009730, ENST00000371761, OTTHUMT00000022057
    Conserved Domains (2) summary
    cd00204
    Location:37156
    Blast Score: 261
    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:74161
    Blast Score: 166
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    50968695..50974637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    49551948..49557890
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    51551919..51557861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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