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CDKN2C Gene(Protein Coding)

Cyclin Dependent Kinase Inhibitor 2C

GCID:
GC01P050960
GIFtS:
52
Genes Participants
UDN Logo

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
  • P18-INK6 3 4
  • Cyclin-Dependent Kinase 6 Inhibitor P18 3
  • Cyclin-Dependent Kinase 4 Inhibitor C 3
  • Cyclin-Dependent Kinase 6 Inhibitor 4
  • Cyclin-Dependent Inhibitor 3
  • CDK6 Inhibitor P18 3
  • P18-INK4C 3
  • P18-INK4c 4
  • INK4C 3
  • CDKN6 4
  • P18 3

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 Choriocarcinoma Of The Testis and Oligodendroglioma. Among its related pathways are Cell Cycle, Mitotic and Mitotic G1-G1/S phases. 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 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 , fRNAdb sequence ontologies and piRNA Summary for CDKN2C Gene

Genomics for CDKN2C Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CDKN2C Gene

Promoters and enhancers for CDKN2C Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J050958 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 662 -0.3 -345 3.2 CLOCK MLX YBX1 FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC CDKN2C FAF1 ENSG00000266993
GH01J050966 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 654.7 +9.2 9186 6.3 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CDKN2C ENSG00000266993 DMRTA2 GC01M050995 GC01M050992
GH01J051563 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.3 +607.3 607273 9.3 HNRNPUL1 ATF1 PKNOX1 NEUROD1 SIN3A ATF7 FOS RUNX3 JUNB REST NRDC RNU6-1281P ENSG00000266993 CDKN2C ENSG00000227070 EPS15 RNU6-877P CALR4P OSBPL9 GC01P051545
GH01J050984 Enhancer 0.7 dbSUPER 15.4 +24.6 24622 1.6 MEIS2 PKNOX1 KLF17 ZNF335 CTBP1 POLR2A ZNF366 ZBTB48 SRF SP3 CDKN2C FAF1 EPS15 DMRTA2 GC01M050992 GC01M050995
GH01J050699 Enhancer 1.7 VISTA UCNEbase ENCODE dbSUPER 4.5 -260.4 -260426 1.6 MZF1 FEZF1 ZIC2 POLR2A ZSCAN5C TCF7L2 EZH2 NANOG ZNF843 SP1 DMRTA2 CDKN2C GC01M050693 GC01M050672 FAF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CDKN2C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDKN2C gene promoter:

Genomic Locations for CDKN2C Gene

Genomic Locations for CDKN2C Gene
chr1:50,960,745-50,974,637
(GRCh38/hg38)
Size:
13,893 bases
Orientation:
Plus strand
chr1:51,426,417-51,440,309
(GRCh37/hg19)

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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:

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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDKN2C Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 Model Products

miRNA for CDKN2C Gene

miRTarBase miRNAs that target CDKN2C

Clone Products

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

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

SIGNOR curated interactions for CDKN2C Gene

Inactivates:

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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AT7519 Investigational 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

Drug Products

Transcripts for CDKN2C Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CDKN2C Gene

(156) Selected AceView cDNA sequences:
(9) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CDKN2C Gene

Cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4):
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for CDKN2C Gene

GeneLoc Exon Structure for
CDKN2C
ECgene alternative splicing isoforms for
CDKN2C

Expression for CDKN2C Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of CDKN2C Gene:

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(4.2)
  • Bone marrow(2.3)

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

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 34 33
  • 100 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CDKN2C 34 33
  • 95.04 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CDKN2C 34 33
  • 94.44 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cdkn2c 16 34 33
  • 91.87 (n)
rat
(Rattus norvegicus)
 Mammalia Cdkn2c 33
  • 91.87 (n)
oppossum
(Monodelphis domestica)
 Mammalia CDKN2C 34
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CDKN2C 34 33
  • 77.49 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CDKN2C 34
  • 67 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cdkn2c 33
  • 65.23 (n)
zebrafish
(Danio rerio)
 Actinopterygii cdkn2c 34 33
  • 53.95 (n)
 OneToOne
Species where no ortholog for CDKN2C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CDKN2C Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_001490 Breast cancer p.Ala72Pro
rs1000741886 -- 50,971,795(+) T/C intron_variant
rs1001048828 -- 50,971,209(+) C/T intron_variant
rs1001143288 -- 50,971,584(+) A/G intron_variant
rs1001387016 -- 50,969,451(+) C/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

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

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

Disorders for CDKN2C Gene

MalaCards: The human disease database

(10) MalaCards diseases for CDKN2C Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
choriocarcinoma of the testis
  • testicular choriocarcinoma
oligodendroglioma
  • oligodendroglial neoplasm
multiple endocrine neoplasia, type i
  • men1
anaplastic oligodendroglioma
parathyroid adenoma
  • adenoma of parathyroid
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDKN2C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 58
  2. 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 58
  3. 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 44 58
  4. Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population. (PMID: 18174243) Driver KE … Studies in Epidemiology and Risks of Cancer Heredity (SEARCH) Team (Carcinogenesis 2008) 3 22 44 58
  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 44 58

Products for CDKN2C Gene

Sources for CDKN2C Gene

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