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Aliases for CDKN1C Gene

Aliases for CDKN1C Gene

  • Cyclin Dependent Kinase Inhibitor 1C 2 3 5
  • Cyclin-Dependent Kinase Inhibitor 1C (P57, Kip2) 2 3
  • Cyclin-Dependent Kinase Inhibitor P57 3 4
  • P57Kip2 3 4
  • KIP2 3 4
  • Cyclin-Dependent Kinase Inhibitor 1C 3
  • Beckwith-Wiedemann Syndrome 2
  • BWCR 3
  • WBS 3
  • P57 3
  • BWS 3

External Ids for CDKN1C Gene

Previous HGNC Symbols for CDKN1C Gene

  • BWCR
  • BWS

Previous GeneCards Identifiers for CDKN1C Gene

  • GC11M003372
  • GC11M003107
  • GC11M002863
  • GC11M002869
  • GC11M002852
  • GC11M002861
  • GC11M002692

Summaries for CDKN1C Gene

Entrez Gene Summary for CDKN1C Gene

  • This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

GeneCards Summary for CDKN1C Gene

CDKN1C (Cyclin Dependent Kinase Inhibitor 1C) is a Protein Coding gene. Diseases associated with CDKN1C include Beckwith-Wiedemann Syndrome and Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and DNA Damage. Gene Ontology (GO) annotations related to this gene include cyclin-dependent protein serine/threonine kinase inhibitor activity. An important paralog of this gene is CDKN1B.

UniProtKB/Swiss-Prot for CDKN1C Gene

  • Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life.

Gene Wiki entry for CDKN1C Gene

Additional gene information for CDKN1C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDKN1C Gene

Genomics for CDKN1C Gene

GeneHancer (GH) Regulatory Elements for CDKN1C Gene

Promoters and enhancers for CDKN1C 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
GH11I002881 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.6 1575 5.7 ATF1 SIN3A ZNF2 ZNF121 POLR2B ZNF766 GLIS2 ZNF213 ATF7 REST CDKN1C PHLDA2 TRPM5 KCNQ1OT1 RNU1-91P SLC22A18 ENSG00000274740
GH11I002888 Enhancer 0.5 Ensembl ENCODE 550.8 -1.8 -1815 0.2 ZBTB33 CDKN1C SLC22A18 SLC22A18AS
GH11I002887 Enhancer 0.2 ENCODE 550.8 -1.6 -1605 0.2 CDKN1C SLC22A18 SLC22A18AS
GH11I002537 Enhancer 0.4 ENCODE dbSUPER 11.8 +346.7 346709 2.9 GC11P002540 SLC22A18AS CDKN1C SLC22A18 PHLDA2 NAP1L4 SNORA54 PIR42060 KCNQ1
GH11I002768 Enhancer 0.9 FANTOM5 ENCODE 4.7 +116.5 116544 1.1 SMARCE1 SMARCC1 JUN KLF17 DPF2 FOSL1 JUND GLIS2 ZNF585B SMARCA4 KCNQ1OT1 CDKN1C COX6CP18 KCNQ1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CDKN1C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDKN1C gene promoter:

Genomic Locations for CDKN1C Gene

Genomic Locations for CDKN1C Gene
chr11:2,883,213-2,885,881
(GRCh38/hg38)
Size:
2,669 bases
Orientation:
Minus strand
chr11:2,904,443-2,907,111
(GRCh37/hg19)

Genomic View for CDKN1C Gene

Genes around CDKN1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDKN1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDKN1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDKN1C Gene

Proteins for CDKN1C Gene

  • Protein details for CDKN1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49918-CDN1C_HUMAN
    Recommended name:
    Cyclin-dependent kinase inhibitor 1C
    Protein Accession:
    P49918

    Protein attributes for CDKN1C Gene

    Size:
    316 amino acids
    Molecular mass:
    32177 Da
    Quaternary structure:
    • Interacts with PCNA.
    Miscellaneous:
    • Paternally imprinted, therefore most expression comes from the maternal allele.

    Alternative splice isoforms for CDKN1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDKN1C Gene

Post-translational modifications for CDKN1C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDKN1C Gene

No data available for DME Specific Peptides for CDKN1C Gene

Domains & Families for CDKN1C Gene

Gene Families for CDKN1C Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CDKN1C Gene

Suggested Antigen Peptide Sequences for CDKN1C Gene

Graphical View of Domain Structure for InterPro Entry

P49918

UniProtKB/Swiss-Prot:

CDN1C_HUMAN :
  • Belongs to the CDI family.
Family:
  • Belongs to the CDI family.
genes like me logo Genes that share domains with CDKN1C: view

Function for CDKN1C Gene

Molecular function for CDKN1C Gene

GENATLAS Biochemistry:
cyclin dependent kinases 2 and 4 (CDK2,CDK4) inhibitor,p57 (KIP2),involved in the G1 phase arrest,regulator of cell cycle,critical terminal effector of signal transduction pathways that control cell differentiation,preferentially expressed from the maternal allele (paternally imprinted),mutated in familial Beckwith-Wiedemann syndrome or in patients with mosaic paternal isodisomies,controlling differentiation of skeletal muscle and alveoli in the lung in parallel with P21 and myogenin
UniProtKB/Swiss-Prot Function:
Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life.

Phenotypes From GWAS Catalog for CDKN1C Gene

Gene Ontology (GO) - Molecular Function for CDKN1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004860 protein kinase inhibitor activity IMP 11746698
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity IEA --
GO:0005515 protein binding IPI 16289477
GO:0032403 protein complex binding IPI --
genes like me logo Genes that share ontologies with CDKN1C: view
genes like me logo Genes that share phenotypes with CDKN1C: view

Human Phenotype Ontology for CDKN1C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CDKN1C Gene

Localization for CDKN1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKN1C 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 CDKN1C gene
Compartment Confidence
nucleus 5
extracellular 3
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDKN1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16943770
GO:0005737 cytoplasm IDA 16943770
genes like me logo Genes that share ontologies with CDKN1C: view

Pathways & Interactions for CDKN1C Gene

genes like me logo Genes that share pathways with CDKN1C: view

Pathways by source for CDKN1C Gene

1 KEGG pathway for CDKN1C Gene
1 GeneGo (Thomson Reuters) pathway for CDKN1C Gene
1 Cell Signaling Technology pathway for CDKN1C Gene

SIGNOR curated interactions for CDKN1C Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CDKN1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IEA --
GO:0007346 regulation of mitotic cell cycle IEA --
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway IMP 16943770
GO:0033673 negative regulation of kinase activity IDA 19170105
genes like me logo Genes that share ontologies with CDKN1C: view

Drugs & Compounds for CDKN1C Gene

(4) Drugs for CDKN1C Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CDKN1C Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CDKN1C: view

Transcripts for CDKN1C Gene

Unigene Clusters for CDKN1C Gene

Cyclin-dependent kinase inhibitor 1C (p57, Kip2):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDKN1C Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:

Relevant External Links for CDKN1C Gene

GeneLoc Exon Structure for
CDKN1C
ECgene alternative splicing isoforms for
CDKN1C

Expression for CDKN1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDKN1C Gene

mRNA differential expression in normal tissues according to GTEx for CDKN1C Gene

This gene is overexpressed in Adrenal Gland (x4.6) and Ovary (x4.3).

Protein differential expression in normal tissues from HIPED for CDKN1C Gene

This gene is overexpressed in Fetal testis (17.9), Ovary (17.4), Placenta (16.9), and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CDKN1C Gene



Protein tissue co-expression partners for CDKN1C Gene

NURSA nuclear receptor signaling pathways regulating expression of CDKN1C Gene:

CDKN1C

SOURCE GeneReport for Unigene cluster for CDKN1C Gene:

Hs.106070

mRNA Expression by UniProt/SwissProt for CDKN1C Gene:

P49918-CDN1C_HUMAN
Tissue specificity: Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas and testis. Expressed in the eye. High levels are seen in the placenta while low levels are seen in the liver.

Evidence on tissue expression from TISSUES for CDKN1C Gene

  • Pancreas(4.1)
  • Heart(3.4)
  • Eye(3.1)
  • Lung(2.8)
  • Nervous system(2.8)
  • Muscle(2.5)
  • Adrenal gland(2.4)
  • Kidney(2.4)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDKN1C Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • vagina
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:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with CDKN1C: view

Orthologs for CDKN1C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDKN1C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CDKN1C 34
  • 56 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cdkn1c 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 31 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii CDKN1C (2 of 2) 34
  • 28 (a)
OneToMany
cdkn1c 34
  • 27 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.37927 33
Species where no ortholog for CDKN1C 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)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDKN1C Gene

ENSEMBL:
Gene Tree for CDKN1C (if available)
TreeFam:
Gene Tree for CDKN1C (if available)

Paralogs for CDKN1C Gene

Paralogs for CDKN1C Gene

(3) SIMAP similar genes for CDKN1C Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CDKN1C: view

Variants for CDKN1C Gene

Sequence variations from dbSNP and Humsavar for CDKN1C Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1013695050 uncertain-significance, Beckwith-Wiedemann syndrome 2,885,090(-) C/G coding_sequence_variant, intron_variant, missense_variant
rs104894200 uncertain-significance, pathogenic, Beckwith-Wiedemann syndrome 2,884,750(-) G/A/T coding_sequence_variant, intron_variant, missense_variant, stop_gained
rs1060499712 uncertain-significance, Beckwith-Wiedemann syndrome 2,885,219(-) A/G coding_sequence_variant, missense_variant
rs1060500172 uncertain-significance, Beckwith-Wiedemann syndrome 2,884,997(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs1060500173 uncertain-significance, Beckwith-Wiedemann syndrome 2,885,030(-) GGACCGGGAC/GGAC coding_sequence_variant, inframe_deletion, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CDKN1C Gene

Variant ID Type Subtype PubMed ID
dgv1574n54 CNV loss 21841781
dgv1575n54 CNV loss 21841781
dgv1576n54 CNV loss 21841781
esv2759795 CNV gain 17122850
nsv1143532 CNV deletion 24896259
nsv467655 CNV loss 19166990
nsv467657 CNV loss 19166990
nsv469930 CNV loss 18288195
nsv553111 CNV loss 21841781
nsv553119 CNV loss 21841781
nsv825715 CNV gain 20364138
nsv832050 CNV loss 17160897
nsv951292 CNV deletion 24416366

Variation tolerance for CDKN1C Gene

Gene Damage Index Score: 6.96; 79.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDKN1C Gene

Human Gene Mutation Database (HGMD)
CDKN1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDKN1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKN1C Gene

Disorders for CDKN1C Gene

MalaCards: The human disease database

(29) MalaCards diseases for CDKN1C Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

CDN1C_HUMAN
  • Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. {ECO:0000269 PubMed:10424811, ECO:0000269 PubMed:26077438}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]: A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. {ECO:0000269 PubMed:22634751}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CDKN1C

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 CDKN1C: view

No data available for Genatlas for CDKN1C Gene

Publications for CDKN1C Gene

  1. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. (PMID: 7729684) Matsuoka S … Elledge SJ (Genes & development 1995) 2 3 4 22 58
  2. Studies of variations of the cyclin-dependent kinase inhibitor 1C and the cyclin-dependent kinase 4 genes in relation to type 2 diabetes mellitus and related quantitative traits. (PMID: 15821902) Nielsen EM … Pedersen O (Journal of molecular medicine (Berlin, Germany) 2005) 3 22 44 58
  3. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. (PMID: 10424811) Lam WW … Maher ER (Journal of medical genetics 1999) 3 4 22 58
  4. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. (PMID: 26077438) Brioude F … Rossignol S (Human mutation 2015) 3 4 58
  5. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. (PMID: 22634751) Arboleda VA … Vilain E (Nature genetics 2012) 3 4 58

Products for CDKN1C Gene

Sources for CDKN1C Gene

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