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Aliases for CDKN1B Gene

Aliases for CDKN1B Gene

  • Cyclin Dependent Kinase Inhibitor 1B 2 3 5
  • Cyclin-Dependent Kinase Inhibitor 1B (P27, Kip1) 2 3
  • P27KIP1 3 4
  • KIP1 3 4
  • Cyclin-Dependent Kinase Inhibitor P27 4
  • Cyclin-Dependent Kinase Inhibitor 1B 3
  • CDKN4 3
  • MEN1B 3
  • MEN4 3

External Ids for CDKN1B Gene

Previous GeneCards Identifiers for CDKN1B Gene

  • GC12P012597
  • GC12P013015
  • GC12P012768
  • GC12P012761
  • GC12P012639
  • GC12P012867

Summaries for CDKN1B Gene

Entrez Gene Summary for CDKN1B Gene

  • This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]

CIViC summary for CDKN1B Gene

GeneCards Summary for CDKN1B Gene

CDKN1B (Cyclin Dependent Kinase Inhibitor 1B) is a Protein Coding gene. Diseases associated with CDKN1B include Multiple Endocrine Neoplasia, Type Iv and Multiple Endocrine Neoplasia 1. Among its related pathways are Development IGF-1 receptor signaling and Constitutive Signaling by AKT1 E17K in Cancer. GO annotations related to this gene include protein complex binding and protein phosphatase binding. An important paralog of this gene is CDKN1C.

UniProtKB/Swiss-Prot for CDKN1B Gene

  • Important regulator of cell cycle progression. Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its phosphorylation state and/or stoichometry.

Gene Wiki entry for CDKN1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDKN1B Gene

Genomics for CDKN1B Gene

Regulatory Elements for CDKN1B Gene

Enhancers for CDKN1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G012733 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21 +20.5 20508 4.9 HDGF FOXA2 PKNOX1 SIN3A FEZF1 ZNF48 ZNF2 YY1 ZNF121 GATA2 CDKN1B APOLD1 DDX47 BORCS5 DUSP16 GPR19 GC12M012732 GC12M012733
GH12G012379 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.1 -334.5 -334514 2.7 PKNOX1 FOXA2 MLX RAD21 RARA YY1 ZNF766 CREM MIXL1 TBX21 CDKN1B DUSP16 MANSC1 ENSG00000240424 BORCS5 APOLD1 BCL2L14 GC12M012376 GC12P012364
GH12G012402 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14 -310.3 -310283 5.3 PKNOX1 FOXA2 ATF1 ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF121 GATA2 CDKN1B CREBL2 DUSP16 ENSG00000240424 GPR19 BORCS5 LOC100506314 GC12P012409 GC12M012364
GH12G012439 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -273.1 -273080 5.9 HDGF PKNOX1 FOXA2 ARID4B YY1 TCF12 SLC30A9 GATA2 ZNF207 FOS BORCS5 DUSP16 DDX47 ENSG00000240424 CDKN1B CREBL2 APOLD1 BCL2L14 GPR19 GC12P012450
GH12G012557 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -153.9 -153944 7.0 FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 DDX47 CREBL2 LOC100506248 GPR19 RPL13AP20 CDKN1B ENSG00000255670 DUSP16 BCL2L14 PIR41199
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDKN1B on UCSC Golden Path with GeneCards custom track

Promoters for CDKN1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000048975 -558 601 TBP CBX3 WRNIP1 ZNF76 FEZF1 RAD21 ZNF366 RELB IKZF2 ZNF362

Genomic Location for CDKN1B Gene

Chromosome:
12
Start:
12,715,058 bp from pter
End:
12,722,383 bp from pter
Size:
7,326 bases
Orientation:
Plus strand

Genomic View for CDKN1B Gene

Genes around CDKN1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDKN1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDKN1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDKN1B Gene

Proteins for CDKN1B Gene

  • Protein details for CDKN1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46527-CDN1B_HUMAN
    Recommended name:
    Cyclin-dependent kinase inhibitor 1B
    Protein Accession:
    P46527
    Secondary Accessions:
    • Q16307
    • Q5U0H2
    • Q9BUS6

    Protein attributes for CDKN1B Gene

    Size:
    198 amino acids
    Molecular mass:
    22073 Da
    Quaternary structure:
    • Forms a ternary complex with CCNE1/CDK2/CDKN1B. Interacts directly with CCNE1; the interaction is inhibited by CDK2-dependent phosphorylation on Thr-187. Interacts with COPS5, subunit of the COP9 signalosome complex; the interaction leads to CDKN1B degradation. Interacts with NUP50; the interaction leads to nuclear import and degradation of phosphorylated CDKN1B. Interacts with CCND1 and SNX6 (By similarity). Interacts (Thr-198-phosphorylated form) with 14-3-3 proteins, binds strongly YWHAQ, weakly YWHAE and YWHAH, but not YWHAB nor YWHAZ; the interaction with YWHAQ results in translocation to the cytoplasm. Interacts with AKT1 and LYN; the interactions lead to cytoplasmic mislocation, phosphorylation of CDKN1B and inhibition of cell cycle arrest. Forms a ternary complex with CCNA2 and CDK2; CDKN1B inhibits the kinase activity of CDK2 through conformational rearrangements. Interacts (unphosphorylated form) with CDK2. Forms a ternary complex, cyclin D/CDK4/CDKN1B. Interacts (phosphorylated on Tyr-88 and Tyr-89) with CDK4; the interaction is required for cyclin D/CDK4 complex assembly, induces nuclear translocation and activates the CDK4 kinase activity. Interacts with GRB2. Interacts with PIM1. Identified in a complex with SKP1, SKP2 and CKS1B. Interacts with UHMK1; the interaction leads to cytoplasmic mislocation, phosphorylation of CDKN1B and inhibition of cell cycle arrest. Interacts also with CDK1. Dephosphorylated on Thr-187 by PPM1H, leading to CDKN1B stability (PubMed:22586611).
    Miscellaneous:
    • Decreased levels of p27Kip1, mainly due to proteasomal degradation, are found in various epithelial tumors originating from lung, breast, colon, ovary, esophagus, thyroid and prostate.

    Three dimensional structures from OCA and Proteopedia for CDKN1B Gene

neXtProt entry for CDKN1B Gene

Post-translational modifications for CDKN1B Gene

  • Phosphorylated; phosphorylation occurs on serine, threonine and tyrosine residues. Phosphorylation on Ser-10 is the major site of phosphorylation in resting cells, takes place at the G(0)-G(1) phase and leads to protein stability. Phosphorylation on other sites is greatly enhanced by mitogens, growth factors, cMYC and in certain cancer cell lines. The phosphorylated form found in the cytoplasm is inactivate. Phosphorylation on Thr-198 is required for interaction with 14-3-3 proteins. Phosphorylation on Thr-187, by CDK1 and CDK2 leads to protein ubiquitination and proteasomal degradation. Tyrosine phosphorylation promotes this process. Phosphorylation by PKB/AKT1 can be suppressed by LY294002, an inhibitor of the catalytic subunit of PI3K. Phosphorylation on Tyr-88 and Tyr-89 has no effect on binding CDK2, but is required for binding CDK4. Dephosphorylated on tyrosine residues by G-CSF.
  • Subject to degradation in the lysosome. Interaction with SNX6 promotes lysosomal degradation (By similarity).
  • Ubiquitinated; in the cytoplasm by the KPC complex (composed of RNF123/KPC1 and UBAC1/KPC2) and, in the nucleus, by SCF(SKP2). The latter requires prior phosphorylation on Thr-187. Ubiquitinated; by a TRIM21-containing SCF(SKP2)-like complex; leads to its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CDKN1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CDKN1B Gene

Domains & Families for CDKN1B Gene

Protein Domains for CDKN1B Gene

Graphical View of Domain Structure for InterPro Entry

P46527

UniProtKB/Swiss-Prot:

CDN1B_HUMAN :
  • A peptide sequence containing only AA 28-79 retains substantial Kip1 cyclin A/CDK2 inhibitory activity.
  • Belongs to the CDI family.
Domain:
  • A peptide sequence containing only AA 28-79 retains substantial Kip1 cyclin A/CDK2 inhibitory activity.
Family:
  • Belongs to the CDI family.
genes like me logo Genes that share domains with CDKN1B: view

No data available for Gene Families for CDKN1B Gene

Function for CDKN1B Gene

Molecular function for CDKN1B Gene

GENATLAS Biochemistry:
cyclin dependent kinases 2 and 4 (CDK2,CDK4) inhibitor,p27 (Kip1),involved in G1 phase arrest,and in the cellular response after DNA damage in cell cycle exit in megacaryocyte,regulator of cell cycle,critical terminal effector of signal transduction pathways that control cell differentiation,overexpressed with CCND3 in agressive B cell lymphomas,underexpressed in the development and progression of oral squamous cell carcinoma and in thyroid,colon,breast,prostate and superficial bladder carcinomas,deleted in leukemias and other cancers with poor prognosis (pancreatic adenocarcinomas)degraded by proteasomes in gliomas
UniProtKB/Swiss-Prot Function:
Important regulator of cell cycle progression. Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its phosphorylation state and/or stoichometry.
UniProtKB/Swiss-Prot Induction:
Maximal levels in quiescence cells and early G(1). Levels decrease after mitogen stimulation as cells progress toward S-phase.

Gene Ontology (GO) - Molecular Function for CDKN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004693 cyclin-dependent protein serine/threonine kinase activity EXP 9190208
GO:0004860 protein kinase inhibitor activity IMP,IEA 8684460
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity IEA,TAS --
GO:0005072 transforming growth factor beta receptor, cytoplasmic mediator activity TAS 8033212
GO:0005515 protein binding IPI 8684460
genes like me logo Genes that share ontologies with CDKN1B: view
genes like me logo Genes that share phenotypes with CDKN1B: view

Human Phenotype Ontology for CDKN1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDKN1B Gene

MGI Knock Outs for CDKN1B:

Animal Model Products

CRISPR Products

miRNA for CDKN1B Gene

miRTarBase miRNAs that target CDKN1B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDKN1B Gene

Localization for CDKN1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKN1B Gene

Nucleus. Cytoplasm. Endosome. Note=Nuclear and cytoplasmic in quiescent cells. AKT- or RSK-mediated phosphorylation on Thr-198, binds 14-3-3, translocates to the cytoplasm and promotes cell cycle progression. Mitogen-activated UHMK1 phosphorylation on Ser-10 also results in translocation to the cytoplasm and cell cycle progression. Phosphorylation on Ser-10 facilitates nuclear export. Translocates to the nucleus on phosphorylation of Tyr-88 and Tyr-89. Colocalizes at the endosome with SNX6; this leads to lysosomal degradation (By similarity). {ECO:0000250}.

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 CDKN1B gene
Compartment Confidence
nucleus 5
cytosol 5
endosome 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for CDKN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11800646
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 12093740
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CDKN1B: view

Pathways & Interactions for CDKN1B Gene

SuperPathways for CDKN1B Gene

genes like me logo Genes that share pathways with CDKN1B: view

SIGNOR curated interactions for CDKN1B Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CDKN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity TAS 8033212
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0001666 response to hypoxia IEA --
GO:0001890 placenta development IEA --
GO:0006813 potassium ion transport IEA --
genes like me logo Genes that share ontologies with CDKN1B: view

Drugs & Compounds for CDKN1B Gene

(66) Drugs for CDKN1B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(36) Additional Compounds for CDKN1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CDKN1B: view

Transcripts for CDKN1B Gene

Unigene Clusters for CDKN1B Gene

Cyclin-dependent kinase inhibitor 1B (p27, Kip1):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDKN1B Gene

No ASD Table

Relevant External Links for CDKN1B Gene

GeneLoc Exon Structure for
CDKN1B
ECgene alternative splicing isoforms for
CDKN1B

Expression for CDKN1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDKN1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CDKN1B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.3) and Fetal Brain (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CDKN1B Gene



Protein tissue co-expression partners for CDKN1B Gene

NURSA nuclear receptor signaling pathways regulating expression of CDKN1B Gene:

CDKN1B

SOURCE GeneReport for Unigene cluster for CDKN1B Gene:

Hs.238990

mRNA Expression by UniProt/SwissProt for CDKN1B Gene:

P46527-CDN1B_HUMAN
Tissue specificity: Expressed in all tissues tested. Highest levels in skeletal muscle, lowest in liver and kidney.

Evidence on tissue expression from TISSUES for CDKN1B Gene

  • Nervous system(4.8)
  • Kidney(4.5)
  • Blood(3)
  • Muscle(2.8)
  • Intestine(2.7)
  • Lung(2.7)
  • Lymph node(2.6)
  • Thyroid gland(2.6)
  • Eye(2.4)
  • Bone marrow(2.3)
  • Heart(2.3)
  • Liver(2.3)
  • Skin(2.3)
  • Spleen(2.3)
  • Adrenal gland(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDKN1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • uterus
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:
  • blood
  • blood vessel
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CDKN1B: view

Primer Products

No data available for mRNA differential expression in normal tissues for CDKN1B Gene

Orthologs for CDKN1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDKN1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDKN1B 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia CDKN1B 34 35
  • 90.24 (n)
dog
(Canis familiaris)
Mammalia CDKN1B 34 35
  • 89.56 (n)
rat
(Rattus norvegicus)
Mammalia Cdkn1b 34
  • 87.59 (n)
mouse
(Mus musculus)
Mammalia Cdkn1b 34 16 35
  • 87.24 (n)
oppossum
(Monodelphis domestica)
Mammalia CDKN1B 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDKN1B 35
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDKN1B 34 35
  • 76.6 (n)
lizard
(Anolis carolinensis)
Reptilia CDKN1B 35
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC100534692 34
  • 64.16 (n)
cdkn1bb 35 35
  • 42 (a)
OneToMany
cdkn1ba 35
  • 39 (a)
OneToMany
Species where no ortholog for CDKN1B 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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 CDKN1B Gene

ENSEMBL:
Gene Tree for CDKN1B (if available)
TreeFam:
Gene Tree for CDKN1B (if available)

Paralogs for CDKN1B Gene

Paralogs for CDKN1B Gene

(3) SIMAP similar genes for CDKN1B Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CDKN1B: view

Variants for CDKN1B Gene

Sequence variations from dbSNP and Humsavar for CDKN1B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs121917832 Pathogenic 12,718,066(+) CGAGT(A/G)GCAAG upstream-variant-2KB, reference, stop-gained
rs551236750 Pathogenic 12,717,760(+) TCGGG(C/T)TGCGT upstream-variant-2KB, utr-variant-5-prime
rs774454456 Pathogenic 12,717,808(+) AGTGC(-/GAGA)GAGGC upstream-variant-2KB, utr-variant-5-prime
rs777354267 Pathogenic 12,718,045(+) CAAAC(C/T)CCTAG upstream-variant-2KB, reference, missense
rs786201007 Pathogenic 12,717,916(+) AAGCC(-/AGGCGGAGCACCCCAAGCC)CTCGG upstream-variant-2KB, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for CDKN1B Gene

Variant ID Type Subtype PubMed ID
esv2745567 CNV deletion 23290073
nsv1046355 CNV loss 25217958

Variation tolerance for CDKN1B Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.58; 88.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDKN1B Gene

Human Gene Mutation Database (HGMD)
CDKN1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDKN1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKN1B Gene

Disorders for CDKN1B Gene

MalaCards: The human disease database

(39) MalaCards diseases for CDKN1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multiple endocrine neoplasia, type iv
  • multiple endocrine neoplasia type 4
multiple endocrine neoplasia 1
  • multiple endocrine neoplasia, type i
oral squamous cell carcinoma
  • mouth squamous cell carcinoma
multiple endocrine neoplasia
  • multiple endocrine neoplasia type 1
b-cell lymphomas
  • b-cell lymphoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CDN1B_HUMAN
  • Multiple endocrine neoplasia 4 (MEN4) [MIM:610755]: Multiple endocrine neoplasia (MEN) syndromes are inherited cancer syndromes of the thyroid. MEN4 is a MEN-like syndrome with a phenotypic overlap of both MEN1 and MEN2. {ECO:0000269 PubMed:17030811}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CDKN1B

Genetic Association Database (GAD)
CDKN1B
Human Genome Epidemiology (HuGE) Navigator
CDKN1B
Tumor Gene Database (TGDB):
CDKN1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDKN1B
genes like me logo Genes that share disorders with CDKN1B: view

No data available for Genatlas for CDKN1B Gene

Publications for CDKN1B Gene

  1. A single-nucleotide polymorphism in the human p27kip1 gene (-838C>A) affects basal promoter activity and the risk of myocardial infarction. (PMID: 15061869) GonzA!lez P. … AndrAcs V. (BMC Biol. 2004) 3 22 46 64
  2. Akt-dependent phosphorylation of p27Kip1 promotes binding to 14-3-3 and cytoplasmic localization. (PMID: 12042314) Fujita N. … Tsuruo T. (J. Biol. Chem. 2002) 3 4 22 64
  3. Cloning of p27Kip1, a cyclin-dependent kinase inhibitor and a potential mediator of extracellular antimitogenic signals. (PMID: 8033212) Polyak K. … Massague J. (Cell 1994) 2 3 4 64
  4. Fbxl12 triggers G1 arrest by mediating degradation of calmodulin kinase I. (PMID: 23707388) Mallampalli R.K. … Agassandian M. (Cell. Signal. 2013) 3 4 64
  5. PPM1H is a p27 phosphatase implicated in trastuzumab resistance. (PMID: 22586611) Lee-Hoeflich S.T. … Stern H.M. (Cancer Discov 2011) 3 4 64

Products for CDKN1B Gene

Sources for CDKN1B Gene

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