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CDKN2C cyclin dependent kinase inhibitor 2C [ Homo sapiens (human) ]

Gene ID: 1031, updated on 2-Nov-2024

Summary

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Official Symbol
CDKN2Cprovided by HGNC
Official Full Name
cyclin dependent kinase inhibitor 2Cprovided by HGNC
Primary source
HGNC:HGNC:1789
See related
Ensembl:ENSG00000123080 MIM:603369; AllianceGenome:HGNC:1789
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]
Expression
Broad expression in fat (RPKM 34.6), ovary (RPKM 9.5) and 22 other tissues See more
Orthologs
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Genomic context

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See CDKN2C in Genome Data Viewer
Location:
1p32.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (50960745..50974634)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (50840624..50854515)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (51426417..51440306)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Fas associated factor 1 Neighboring gene PHB1 pseudogene 12 Neighboring gene MPRA-validated peak217 silencer Neighboring gene Sharpr-MPRA regulatory region 673 Neighboring gene mitochondrial ribosomal protein S6 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:51375804-51376372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:51376373-51376941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:51418325-51418899 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 868 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 870 Neighboring gene CRISPRi-validated cis-regulatory element chr1.6035 Neighboring gene microRNA 4421 Neighboring gene microRNA 6500

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Expression levels of p18INK4C modify the cellular efficacy of cyclin-dependent kinase inhibitors via regulation of Mcl-1 expression in tumor cell lines. Eguchi T, et al. Mol Cancer Ther, 2009 Jun. PMID 19509251
  2. Role of CDKN2C Copy Number in Sporadic Medullary Thyroid Carcinoma. Grubbs EG, et al. Thyroid, 2016 Nov. PMID 27610696, Free PMC Article
  3. Array-CGH predicts prognosis in plasma cell post-transplantation lymphoproliferative disorders. Sarkozy C, et al. Genes Chromosomes Cancer, 2017 Mar. PMID 27750397
  4. Repression of CDKN2C caused by PML/RARα binding promotes the proliferation and differentiation block in acute promyelocytic leukemia. Wang X, et al. Front Med, 2016 Dec. PMID 27888400
  5. Silencing of the p18INK4c gene by promoter hypermethylation in Reed-Sternberg cells in Hodgkin lymphomas. Sánchez-Aguilera A, et al. Blood, 2004 Mar 15. PMID 14645011

See all (116) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.
    Title: CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.
  2. The Oncogenic Role of Cyclin-Dependent Kinase Inhibitor 2C in Lower-Grade Glioma.
    Title: The Oncogenic Role of Cyclin-Dependent Kinase Inhibitor 2C in Lower-Grade Glioma.
  3. p18INK4C and BRCA1 inhibit follicular cell proliferation and dedifferentiation in thyroid cancer.
    Title: p18INK4C and BRCA1 inhibit follicular cell proliferation and dedifferentiation in thyroid cancer.
  4. Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
    Title: Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.
  5. CDKN2C expression in adipose tissue is reduced in type II diabetes and central obesity: impact on adipocyte differentiation and lipid storage?
    Title: CDKN2C expression in adipose tissue is reduced in type II diabetes and central obesity: impact on adipocyte differentiation and lipid storage?
  6. The distinct effects of P18 overexpression on different stages of hematopoiesis involve TGF-beta and NF-kappaB signaling.
    Title: The distinct effects of P18 overexpression on different stages of hematopoiesis involve TGF-β and NF-κB signaling.
  7. Downregulated miRNA-22-3p promotes the progression and leads to poor prognosis of hepatocellular carcinoma through targeting CDKN2C.
    Title: Downregulated miRNA-22-3p promotes the progression and leads to poor prognosis of hepatocellular carcinoma through targeting CDKN2C.
  8. miR-21-5p promotes cell proliferation and G1/S transition in melanoma by targeting CDKN2C.
    Title: miR-21-5p promotes cell proliferation and G1/S transition in melanoma by targeting CDKN2C.
  9. PRMT6 serves an oncogenic role in lung adenocarcinoma via regulating p18.
    Title: PRMT6 serves an oncogenic role in lung adenocarcinoma via regulating p18.
  10. MCL1 binding to the reverse BH3 motif of P18INK4C couples cell survival to cell proliferation.
    Title: MCL1 binding to the reverse BH3 motif of P18INK4C couples cell survival to cell proliferation.
Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cyclin-dependent protein serine/threonine kinase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of cell growth IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of G1/S transition of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in stem cell proliferation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cyclin-dependent kinase 4 inhibitor C
Names
CDK6 inhibitor p18
cyclin-dependent inhibitor
cyclin-dependent kinase 6 inhibitor p18
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
p18-INK6

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_001262.3 → NP_001253.1  cyclin-dependent kinase 4 inhibitor C

    See identical proteins and their annotated locations for 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)
    AL359977, AL590455
    Consensus CDS
    CCDS555.1
    UniProtKB/Swiss-Prot
    P42773, Q8TB83
    UniProtKB/TrEMBL
    D3DQ28, Q6ICV4
    Related
    ENSP00000379452.1, ENST00000396148.2
    Conserved Domains (3) summary
    sd00045
    Location:37 → 67
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:103 → 156
    Ank_4; Ankyrin repeats (many copies)
    pfam12796
    Location:46 → 127
    Ank_2; Ankyrin repeats (3 copies)

  2. NM_001429675.1 → NP_001416604.1  cyclin-dependent kinase 4 inhibitor C

    Status: REVIEWED

    Source sequence(s)
    AL359977, AL590455
    UniProtKB/Swiss-Prot
    P42773, Q8TB83
    UniProtKB/TrEMBL
    D3DQ28, Q6ICV4
    Related
    ENSP00000262662.1, ENST00000262662.5

  3. NM_078626.3 → NP_523240.1  cyclin-dependent kinase 4 inhibitor C

    See identical proteins and their annotated locations for 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, Q8TB83
    UniProtKB/TrEMBL
    D3DQ28, Q6ICV4
    Related
    ENSP00000360826.3, ENST00000371761.4
    Conserved Domains (3) summary
    sd00045
    Location:37 → 67
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:103 → 156
    Ank_4; Ankyrin repeats (many copies)
    pfam12796
    Location:46 → 127
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    50960745..50974634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    50840624..50854515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P42773.1 GenPept UniProtKB/Swiss-Prot:P42773

Gene LinkOut

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