CDKN2C Gene (Protein Coding)

Cyclin Dependent Kinase Inhibitor 2C

GC01P050960
GIFtS:
47
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 mann... See more...

Aliases for CDKN2C Gene

Aliases for CDKN2C Gene

  • Cyclin Dependent Kinase Inhibitor 2C 2 3 5
  • Cyclin-Dependent Kinase Inhibitor 2C (P18, Inhibits CDK4) 2 3
  • Cyclin-Dependent Kinase 4 Inhibitor C 3 4
  • P18-INK6 3 4
  • INK4C 2 3
  • P18 2 3
  • Cyclin-Dependent Kinase 6 Inhibitor P18 3
  • Cyclin-Dependent Kinase 6 Inhibitor 4
  • Cyclin-Dependent Inhibitor 3
  • CDK6 Inhibitor P18 3
  • P18-INK4C 3
  • P18-INK4c 4
  • CDKN2C 5
  • CDKN6 4

External Ids for CDKN2C Gene

Previous GeneCards Identifiers for CDKN2C Gene

  • GC01P051060
  • GC01P050315
  • GC01P050784
  • GC01P050796
  • GC01P051138
  • GC01P051427
  • GC01P049551

Summaries for CDKN2C Gene

Entrez Gene Summary for CDKN2C Gene

  • 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]

GeneCards Summary for CDKN2C Gene

CDKN2C (Cyclin Dependent Kinase Inhibitor 2C) is a Protein Coding gene. Diseases associated with CDKN2C include Multiple Endocrine Neoplasia, Type I and Plasma Cell Neoplasm. Among its related pathways are Cellular Senescence (REACTOME) and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include protein kinase binding and cyclin-dependent protein serine/threonine kinase inhibitor activity. An important paralog of this gene is CDKN2D.

UniProtKB/Swiss-Prot Summary for CDKN2C Gene

  • Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB.

Gene Wiki entry for CDKN2C Gene

Additional gene information for CDKN2C Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDKN2C Gene

Genomics for CDKN2C Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CDKN2C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDKN2C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDKN2C

Top Transcription factor binding sites by QIAGEN in the CDKN2C gene promoter:
  • GATA-1
  • GR
  • GR-alpha

Genomic Locations for CDKN2C Gene

Latest Assembly
chr1:50,960,745-50,974,634
(GRCh38/hg38)
Size:
13,890 bases
Orientation:
Plus strand

Previous Assembly
chr1:51,434,378-51,440,306
(GRCh37/hg19 by Entrez Gene)
Size:
5,929 bases
Orientation:
Plus strand

chr1:51,426,417-51,440,305
(GRCh37/hg19 by Ensembl)
Size:
13,889 bases
Orientation:
Plus strand

Genomic View for CDKN2C Gene

Genes around CDKN2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDKN2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDKN2C Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CDKN2C Gene

Proteins for CDKN2C Gene

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  • Protein details for CDKN2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42773-CDN2C_HUMAN
    Recommended name:
    Cyclin-dependent kinase 4 inhibitor C
    Protein Accession:
    P42773
    Secondary Accessions:
    • Q8TB83

    Protein attributes for CDKN2C Gene

    Size:
    168 amino acids
    Molecular mass:
    18127 Da
    Quaternary structure:
    • Heterodimer of p18 with CDK6.

    Three dimensional structures from OCA and Proteopedia for CDKN2C Gene

neXtProt entry for CDKN2C Gene

Protein Expression for CDKN2C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CDKN2C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDKN2C Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for CDKN2C Gene

Domains & Families for CDKN2C Gene

Gene Families for CDKN2C Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CDKN2C Gene

InterPro:
Blocks:
  • Ankyrin repeat signature

Suggested Antigen Peptide Sequences for CDKN2C Gene

GenScript: Design optimal peptide antigens:
  • p18-INK6 (CDN2C_HUMAN)
  • cDNA FLJ33851 fis, clone CTONG2005635, highly similar to CYCLIN-DEPENDENT KINASE 6 INHIBITOR (Q6ICV4_HUMAN)
  • Cyclin-dependent kinase inhibitor 2C (Q9P1T2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P42773

UniProtKB/Swiss-Prot:

CDN2C_HUMAN :
  • Belongs to the CDKN2 cyclin-dependent kinase inhibitor family.
Family:
  • Belongs to the CDKN2 cyclin-dependent kinase inhibitor family.
genes like me logo Genes that share domains with CDKN2C: view

Function for CDKN2C Gene

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  6. Cell Lines for research

Molecular function for CDKN2C Gene

UniProtKB/Swiss-Prot Function:
Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB.
GENATLAS Biochemistry:
cyclin dependent kinase 6 (CDK6),inhibitor p18,regulator of cell cycle,passage through the G1 checkpoint,altered in a low fraction of oligodendroglial tumors

Phenotypes From GWAS Catalog for CDKN2C Gene

Gene Ontology (GO) - Molecular Function for CDKN2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity IDA 8001816
GO:0005515 protein binding IPI 8840966
GO:0016301 kinase activity IEA --
GO:0019901 protein kinase binding IPI 8001816
genes like me logo Genes that share ontologies with CDKN2C: view
genes like me logo Genes that share phenotypes with CDKN2C: view

Human Phenotype Ontology for CDKN2C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDKN2C Gene

MGI Knock Outs for CDKN2C:

Animal Models for research

miRNA for CDKN2C Gene

miRTarBase miRNAs that target CDKN2C

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDKN2C

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDKN2C Gene

Localization for CDKN2C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDKN2C gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDKN2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11800646
GO:0005737 cytoplasm IDA 11800646
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CDKN2C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CDKN2C Gene

Pathways & Interactions for CDKN2C Gene

genes like me logo Genes that share pathways with CDKN2C: view

Pathways by source for CDKN2C Gene

4 Qiagen pathways for CDKN2C Gene
  • Cyclins and Cell Cycle Regulation
  • G1-S Phase Transition
  • Molecular Mechanisms of Cancer
  • Pancreatic Adenocarcinoma
1 Cell Signaling Technology pathway for CDKN2C Gene
1 GeneTex pathway for CDKN2C Gene

SIGNOR curated interactions for CDKN2C Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CDKN2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity IDA 8001816
GO:0000082 G1/S transition of mitotic cell cycle IDA 10208428
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IDA 10208428
GO:0008285 negative regulation of cell proliferation IDA 10208428
genes like me logo Genes that share ontologies with CDKN2C: view

Drugs & Compounds for CDKN2C Gene

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(10) Drugs for CDKN2C Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AT7519 Pharma Multi-CDK inhibitor 0
Kenpaullone Pharma 0
ML167 Pharma Clk4 inhibitor,highly selective 0
Nu 6027 Pharma ATR/CDK inhibitor, potent and selective 0
PHA-848125 Pharma CDK inhibitor,potent and ATP-competitive 0

(8) ApexBio Compounds for CDKN2C Gene

Compound Action Cas Number
AT7519 Multi-CDK inhibitor 844442-38-2
Kenpaullone 142273-20-9
ML167 Clk4 inhibitor,highly selective 1285702-20-6
Nu 6027 ATR/CDK inhibitor, potent and selective 220036-08-8
PHA-848125 CDK inhibitor,potent and ATP-competitive 802539-81-7
Purvalanol B CDK1/CDK2/CDK4 inhibitor 212844-54-7
R547 CDK1/2/4 inhibitor,ATP-competitive 741713-40-6
Ro 3306 An ATP-competitive, potent CDK1 inhibitor 872573-93-8
genes like me logo Genes that share compounds with CDKN2C: view

Transcripts for CDKN2C Gene

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mRNA/cDNA for CDKN2C Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDKN2C

Alternative Splicing Database (ASD) splice patterns (SP) for CDKN2C Gene

No ASD Table

Relevant External Links for CDKN2C Gene

GeneLoc Exon Structure for
CDKN2C

Expression for CDKN2C Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDKN2C Gene

mRNA expression in normal human tissues for CDKN2C Gene
mRNA expression by BioGPS for CDKN2C GenemRNA expression by GTEx for CDKN2C Gene

Protein differential expression in normal tissues from HIPED for CDKN2C Gene

This gene is overexpressed in Ovary (22.9) and Uterus (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDKN2C Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDKN2C

SOURCE GeneReport for Unigene cluster for CDKN2C Gene:

Hs.525324

mRNA Expression by UniProt/SwissProt for CDKN2C Gene:

P42773-CDN2C_HUMAN
Tissue specificity: Highest levels found in skeletal muscle. Also found in pancreas and heart.

Evidence on tissue expression from TISSUES for CDKN2C Gene

  • Nervous system(4.8)
  • Kidney(4.4)
  • Bone marrow(2.4)
  • Skin(2.3)
  • Blood(2.2)
  • Thyroid gland(2.2)
  • Pancreas(2.1)
  • Lymph node(2.1)
  • Liver(2)
  • Muscle(2)
  • Heart(2)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDKN2C Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CDKN2C: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for CDKN2C Gene

Orthologs for CDKN2C Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDKN2C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CDKN2C 29 30
  • 100 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CDKN2C 29 30
  • 95.04 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CDKN2C 29 30
  • 94.44 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cdkn2c 29 16 30
  • 91.87 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cdkn2c 29
  • 91.87 (n)
Oppossum
(Monodelphis domestica)
 Mammalia CDKN2C 30
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CDKN2C 29 30
  • 77.49 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CDKN2C 30
  • 67 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cdkn2c 29
  • 65.23 (n)
Zebrafish
(Danio rerio)
 Actinopterygii cdkn2c 29 30
  • 53.95 (n)
 OneToOne
Species where no ortholog for CDKN2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDKN2C Gene

ENSEMBL:
Gene Tree for CDKN2C (if available)
TreeFam:
Gene Tree for CDKN2C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDKN2C: view image
Alliance of Genome Resources:
Additional Orthologs for CDKN2C

Paralogs for CDKN2C Gene

Paralogs for CDKN2C Gene

(40) SIMAP similar genes for CDKN2C Gene using alignment to 3 proteins:

  • CDN2C_HUMAN
  • Q6ICV4_HUMAN
  • Q9P1T2_HUMAN
genes like me logo Genes that share paralogs with CDKN2C: view

Variants for CDKN2C Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDKN2C Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1570203209 Not Provided: not provided 50,970,498(+) G/T
NM_078626.3(CDKN2C):c.129+1G>T 		SPLICE_DONOR
rs746646631 Likely Pathogenic: Multiple myeloma 50,973,993(+) C/A
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu) 		MISSENSE
rs771853517 Breast cancer p.Ala72Pro
rs17851380 -- p.Thr126Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDKN2C Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CDKN2C Gene

Variant ID Type Subtype PubMed ID
nsv1004803 CNV gain 25217958
nsv546205 CNV loss 21841781

Variation tolerance for CDKN2C Gene

Residual Variation Intolerance Score: 48.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDKN2C Gene

Human Gene Mutation Database (HGMD)
CDKN2C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDKN2C
Leiden Open Variation Database (LOVD)
CDKN2C

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKN2C Gene

Disorders for CDKN2C Gene

MalaCards: The human disease database

(20) MalaCards diseases for CDKN2C Gene - From: CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
multiple endocrine neoplasia, type i
  • men1
plasma cell neoplasm
  • plasma cell dyscrasia
oligodendroglioma
  • oligodendroglial neoplasm
parathyroid adenoma
  • adenoma of parathyroid
myeloma, multiple
  • multiple myeloma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDKN2C

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CDKN2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDKN2C Gene

Publications for CDKN2C Gene

  1. Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. (PMID: 19141585) Agarwal SK … Marx SJ (The Journal of clinical endocrinology and metabolism 2009) 3 22 40 72
  2. Structure of the gene encoding the human cyclin-dependent kinase inhibitor p18 and mutational analysis in breast cancer. (PMID: 9636670) Blais A … Labrie C (Biochemical and biophysical research communications 1998) 2 3 4 22
  3. Growth suppression by p18, a p16INK4/MTS1- and p14INK4B/MTS2-related CDK6 inhibitor, correlates with wild-type pRb function. (PMID: 8001816) Guan KL … Xiong Y (Genes & development 1994) 2 3 4 22
  4. Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk. (PMID: 19258477) Goode EL … Sellers TA (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 40
  5. Effects of common germline genetic variation in cell cycle control genes on breast cancer survival: results from a population-based cohort. (PMID: 18507837) Azzato EM … Pharoah PD (Breast cancer research : BCR 2008) 3 22 40

ExternalLinks

View latest publications for CDKN2C gene in Mastermind

Products for CDKN2C Gene

Sources for CDKN2C Gene