CDKN2C (cyclin dependent kinase inhibitor 2C)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1031
Gene name Cyclin dependent kinase inhibitor 2C
Gene symbol CDKN2C
Synonyms (NCBI Gene)
INK4Cp18p18-INK4C
Chromosome 1
Chromosome location 1p32.3
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
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
MEN1 Repression 10523037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603369 1789 ENSG00000123080
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Multiple myeloma Likely pathogenic rs746646631 RCV000984122
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (148)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTH-Secreting Pituitary Adenoma Pituitary adenoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 29694893, 8637234
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29694893, 7606004, 8637234
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 27888400
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 18973139, 19401813, 23715670
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 29694893, 8637234
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 14500378, 16260494, 19805107
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 10515227, 10517502
★★★★★
★☆☆☆☆
Found in Text Mining only