CDKN2C (cyclin dependent kinase inhibitor 2C)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1031
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin dependent kinase inhibitor 2C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDKN2C
Synonyms (NCBI Gene) Gene synonyms aliases
INK4C, p18, p18-INK4C
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs746646631 C>A,T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT025585 hsa-miR-34a-5p Reporter assay;qRT-PCR 21128241
MIRT2197999 hsa-miR-4433 CLIP-seq
MIRT2198000 hsa-miR-4459 CLIP-seq
MIRT2198001 hsa-miR-4768-3p CLIP-seq
MIRT2198002 hsa-miR-548n CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
MEN1 Repression 10523037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity IBA
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity IDA 8001816
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity IEA
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity TAS 10208428
GO:0005515 Function Protein binding IPI 8840966, 18394558, 21988832, 23455922, 23602568, 24981860, 25416956, 25502805, 25910212, 27107012, 28514442, 31515488, 32296183, 32707033, 32814053, 33961781, 35271311
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603369 1789 ENSG00000123080
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P42773
Protein name Cyclin-dependent kinase 4 inhibitor C (Cyclin-dependent kinase 6 inhibitor) (p18-INK4c) (p18-INK6)
Protein function Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB.
PDB 1BU9 , 1G3N , 1IHB , 1MX2 , 1MX4 , 1MX6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13857 Ank_5 89 → 144 Repeat
Tissue specificity TISSUE SPECIFICITY: Highest levels found in skeletal muscle. Also found in pancreas and heart.
Sequence 
MAEPWGNELASAAARGDLEQLTSLLQNNVNVNAQNGFGRTALQVMKLGNPEIARRLLLRG
ANPDLKDRTGFAVIHDAARAGFLDTLQTLLEFQADVNIEDNEGNLPLHLAAKEGHLRVVE
FLVKHTASNVGHRNHKGDTACDLARLYGRNEVVSLMQANGAGGATNLQ
Sequence length 168
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Endocrine resistance
Cell cycle
Cushing syndrome
Human T-cell leukemia virus 1 infection
Transcriptional misregulation in cancer 		  Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
Cyclin D associated events in G1
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Multiple myeloma multiple myeloma rs746646631 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes (PheCode 250.2), Type 2 diabetes N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Renal Carcinoma Renal cell carcinoma N/A N/A GWAS
Show/Hide Text Mining Associations (67)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Inhibit 14645011
Anemia Dyserythropoietic Congenital Associate 30876823
Arthritis Rheumatoid Associate 16802342
Breast Neoplasms Associate 33110086, 35751045, 40695981
Carcinogenesis Associate 21112821, 26350239
Carcinoma Hepatocellular Associate 24254306, 34076987
Carcinoma Merkel Cell Associate 26981779
Death Associate 11800646
Diabetes Mellitus Type 2 Associate 32948839, 34896253
Embryo Loss Associate 21112821