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CDKN2C (cyclin dependent kinase inhibitor 2C)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1031
Gene nameGene Name - the full gene name approved by the HGNC.
Cyclin dependent kinase inhibitor 2C
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CDKN2C
SynonymsGene synonyms aliases
INK4C, p18, p18-INK4C
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs746646631 C>A,T Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
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 factor Regulation Reference
MEN1 Repression 10523037
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000079 Process Regulation of cyclin-dependent protein serine/threonine kinase activity IDA 8001816
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 10208428
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity IDA 8001816
GO:0005515 Function Protein binding IPI 8840966, 18394558, 21988832, 23455922, 23602568, 24981860, 25416956, 25502805, 25910212, 27107012, 28514442, 31515488, 32296183, 32814053
GO:0005634 Component Nucleus IDA 11800646
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MAEPWGNELASAAARGDLEQLTSLLQNNVNVNAQNGFGRTALQVMKLGNPEIARRLLLRG
ANPDLKDRTGFAVIHDAARAGFLDTLQTLLEFQADVNIEDNEGNLPLHLAAKEGHLRVVE
FLVKHTASNVGHRNHKGDTACDLA
RLYGRNEVVSLMQANGAGGATNLQ
Sequence length 168
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Adrenocortical adenoma Adrenal Cortical Adenoma rs121913035
Adrenocortical carcinoma Adrenocortical carcinoma rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664, rs587782705, rs193920817, rs55863639, rs730882029, rs730882005, rs730882025, rs730881999, rs786201838, rs786202962, rs863224451, rs863224499, rs760043106, rs11540652, rs11540654, rs876658483, rs587781525, rs1057519986, rs1057519989, rs530941076, rs1060501197, rs1064792930, rs1064794618, rs1131691042, rs1555526131, rs1057519990, rs1555526097, rs1567554500, rs1131691039, rs1202793339, rs769697802
Angiofibroma Angiofibroma rs121913034, rs267607234
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Unknown
Disease name Disease term dbSNP ID References
Eosinophilia Esophagitis
Glucagonoma Glucagonoma
Insulinoma insulinoma
Ischemic stroke Ischemic stroke rs6025, rs1799963, rs1799983 26732560

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