Details for: CDKN1C

Gene ID: 1028

Symbol: CDKN1C

Ensembl ID: ENSG00000129757

Description: cyclin dependent kinase inhibitor 1C

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 269.2143
    Cell Significance Index: -41.8800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 163.8324
    Cell Significance Index: -41.5600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 94.2353
    Cell Significance Index: -38.8200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 87.2655
    Cell Significance Index: -41.2000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 78.4479
    Cell Significance Index: -31.8700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 74.9049
    Cell Significance Index: -38.5300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.0118
    Cell Significance Index: -41.9400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 33.4645
    Cell Significance Index: -31.9500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 24.0215
    Cell Significance Index: 641.4100
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 17.5136
    Cell Significance Index: 108.8200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.5751
    Cell Significance Index: -41.7300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.9697
    Cell Significance Index: -27.5500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 8.7122
    Cell Significance Index: 233.4500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.5543
    Cell Significance Index: 34.8500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 2.5121
    Cell Significance Index: 27.3100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.9556
    Cell Significance Index: 25.0500
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.8679
    Cell Significance Index: 19.5000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.8169
    Cell Significance Index: 94.6400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.6903
    Cell Significance Index: 232.1200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.5807
    Cell Significance Index: 202.6400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.5796
    Cell Significance Index: 2974.2300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.5730
    Cell Significance Index: 71.3000
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.4969
    Cell Significance Index: 12.3800
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 1.3019
    Cell Significance Index: 7.4000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.2686
    Cell Significance Index: 34.5300
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.2619
    Cell Significance Index: 10.6000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.2369
    Cell Significance Index: 25.8900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0305
    Cell Significance Index: 53.5300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8340
    Cell Significance Index: 753.0200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7139
    Cell Significance Index: 20.5700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.6564
    Cell Significance Index: 18.8200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6312
    Cell Significance Index: 77.6100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6266
    Cell Significance Index: 119.2400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5662
    Cell Significance Index: 309.2200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4873
    Cell Significance Index: 79.2600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4439
    Cell Significance Index: 48.2800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.4096
    Cell Significance Index: 3.3400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.3859
    Cell Significance Index: 5.5500
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.3501
    Cell Significance Index: 3.7200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3298
    Cell Significance Index: 19.8000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.3290
    Cell Significance Index: 5.0900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2642
    Cell Significance Index: 47.6200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.2500
    Cell Significance Index: 2.8400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.2433
    Cell Significance Index: 1.4700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2251
    Cell Significance Index: 7.9100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2021
    Cell Significance Index: 40.1000
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.2007
    Cell Significance Index: 0.9600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1906
    Cell Significance Index: 8.9600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1835
    Cell Significance Index: 18.1500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1730
    Cell Significance Index: 11.9700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1057
    Cell Significance Index: 46.7300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0945
    Cell Significance Index: 60.0400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0796
    Cell Significance Index: 108.1900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0772
    Cell Significance Index: 2.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0718
    Cell Significance Index: 132.4500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0639
    Cell Significance Index: 1.0700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0312
    Cell Significance Index: 11.1800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0307
    Cell Significance Index: 47.2900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0140
    Cell Significance Index: -0.7100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0214
    Cell Significance Index: -15.8500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0214
    Cell Significance Index: -13.3400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0244
    Cell Significance Index: -0.1700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0315
    Cell Significance Index: -23.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0461
    Cell Significance Index: -26.0000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0503
    Cell Significance Index: -38.0900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0521
    Cell Significance Index: -2.4300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0547
    Cell Significance Index: -24.8500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0634
    Cell Significance Index: -7.2600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0695
    Cell Significance Index: -3.9000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0725
    Cell Significance Index: -9.3700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0808
    Cell Significance Index: -13.8000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0846
    Cell Significance Index: -17.8100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0901
    Cell Significance Index: -9.2000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1055
    Cell Significance Index: -12.3000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1085
    Cell Significance Index: -31.2100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1353
    Cell Significance Index: -27.1400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1729
    Cell Significance Index: -25.1400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1813
    Cell Significance Index: -3.7600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2343
    Cell Significance Index: -16.5700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2496
    Cell Significance Index: -25.9900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2586
    Cell Significance Index: -19.2800
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.2621
    Cell Significance Index: -1.2100
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.2622
    Cell Significance Index: -2.4900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2710
    Cell Significance Index: -5.2900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2947
    Cell Significance Index: -33.6500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3424
    Cell Significance Index: -40.3800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3738
    Cell Significance Index: -10.0000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3812
    Cell Significance Index: -24.5900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3864
    Cell Significance Index: -30.6000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3965
    Cell Significance Index: -4.1100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3987
    Cell Significance Index: -25.1300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4320
    Cell Significance Index: -17.7000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4419
    Cell Significance Index: -10.2100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4465
    Cell Significance Index: -9.5100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4598
    Cell Significance Index: -12.8500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5066
    Cell Significance Index: -31.0600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.5093
    Cell Significance Index: -39.0800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.5503
    Cell Significance Index: -8.7300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6375
    Cell Significance Index: -5.0900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6391
    Cell Significance Index: -22.2100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The CDKN1C gene is a tumor suppressor gene that encodes a protein with cyclin-dependent kinase inhibitor activity. This protein inhibits the activity of cyclin-dependent kinases, which are essential for cell cycle progression. CDKN1C is a negative regulator of cell proliferation and is involved in the regulation of the G1/S transition. The gene is also involved in the regulation of lens fiber cell differentiation and the development of the skeletal system. **Pathways and Functions** CDKN1C is involved in several cellular pathways, including: 1. **Aberrant regulation of mitotic cell cycle due to rb1 defects**: CDKN1C is involved in the regulation of the mitotic cell cycle, which is critical for the proper progression of cells through the cell cycle. Mutations in CDKN1C can lead to aberrant regulation of the mitotic cell cycle, resulting in cancer. 2. **Aberrant regulation of mitotic G1/S transition in cancer due to rb1 defects**: CDKN1C is involved in the regulation of the G1/S transition, which is critical for the proper progression of cells through the cell cycle. Mutations in CDKN1C can lead to aberrant regulation of the G1/S transition, resulting in cancer. 3. **Adrenal gland development**: CDKN1C is involved in the development of the adrenal gland, a critical organ that produces hormones essential for various bodily functions. 4. **Camera-type eye development**: CDKN1C is involved in the development of the camera-type eye, a complex organ that allows for vision. 5. **Cell cycle**: CDKN1C is involved in the regulation of the cell cycle, which is critical for the proper progression of cells through the cell cycle. **Clinical Significance** CDKN1C mutations have been implicated in several diseases, including: 1. **Cancer**: Mutations in CDKN1C can lead to aberrant regulation of the mitotic cell cycle, resulting in cancer. 2. **Developmental disorders**: CDKN1C mutations have been implicated in developmental disorders, including Wilms tumor and Beckwith-Wiedemann syndrome. 3. **Genomic imprinting**: CDKN1C is a genomic imprinted gene, which means that its expression is influenced by the parental origin of the gene. Mutations in CDKN1C can lead to genomic imprinting disorders. In conclusion, CDKN1C is a critical gene that plays a crucial role in regulating the cell cycle and developmental processes. Mutations in CDKN1C can lead to aberrant regulation of the mitotic cell cycle, resulting in cancer and developmental disorders. Further research is needed to fully understand the role of CDKN1C in human disease and to develop effective therapeutic strategies for the treatment of CDKN1C-related disorders.

Genular Protein ID: 2986461387

Symbol: CDN1C_HUMAN

Name: Cyclin-dependent kinase inhibitor 1C

UniProtKB Accession Codes:

P49918

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 ELM 1 EMBL 5 Ensembl 3 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 4 SIGNOR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7729684

Title: p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene.

PubMed ID: 7729684

DOI: 10.1101/gad.9.6.650

PubMed ID: 8640800

Title: Genomic organization of the human p57KIP2 gene and its analysis in the G401 Wilms' tumor assay.

PubMed ID: 8640800

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8655143

Title: Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis.

PubMed ID: 8655143

DOI: 10.1007/bf02281873

PubMed ID: 10424811

Title: Analysis of germline CDKN1C (p57-KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.

PubMed ID: 10424811

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 22634751

Title: Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

PubMed ID: 22634751

DOI: 10.1038/ng.2275

PubMed ID: 26077438

Title: Mutations of the imprinted CDKN1C gene as a cause of the overgrowth Beckwith-Wiedemann syndrome: clinical spectrum and functional characterization.

PubMed ID: 26077438

DOI: 10.1002/humu.22824

Sequence Information:

  • Length: 316
  • Mass: 32177
  • Checksum: A94CCBF09F8CB3E4
  • Sequence:
    • MSDASLRSTS TMERLVARGT FPVLVRTSAC RSLFGPVDHE ELSRELQARL AELNAEDQNR 
WDYDFQQDMP LRGPGRLQWT EVDSDSVPAF YRETVQVGRC RLLLAPRPVA VAVAVSPPLE 
PAAESLDGLE EAPEQLPSVP VPAPASTPPP VPVLAPAPAP APAPVAAPVA APVAVAVLAP 
APAPAPAPAP APAPVAAPAP APAPAPAPAP APAPAPDAAP QESAEQGANQ GQRGQEPLAD 
QLHSGISGRP AAGTAAASAN GAAIKKLSGP LISDFFAKRK RSAPEKSSGD VPAPCPSPSA 
APGVGSVEQT PRKRLR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.