Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1027
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin dependent kinase inhibitor 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDKN1B
Synonyms (NCBI Gene) Gene synonyms aliases
CDKN4, KIP1, MEN1B, MEN4, P27KIP1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.1
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000137 hsa-miR-221-3p Luciferase reporter assay, Western blot 17569667
MIRT000137 hsa-miR-221-3p Luciferase reporter assay, Western blot 17569667
MIRT000131 hsa-miR-222-3p Luciferase reporter assay, Western blot 17569667
MIRT000131 hsa-miR-222-3p Luciferase reporter assay, Western blot 17569667
MIRT000137 hsa-miR-221-3p Luciferase reporter assay 17914108
Transcription factors
Transcription factor Regulation Reference
BRCA1 Activation 18025037
BRCA1 Unknown 16331276
COPS5 Repression 16951171
CUX1 Unknown 19332113
ESR1 Repression 17681750
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 8033212
GO:0000082 Process G1/S transition of mitotic cell cycle IBA
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000082 Process G1/S transition of mitotic cell cycle TAS
GO:0001890 Process Placenta development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600778 1785 ENSG00000111276
Protein
UniProt ID P46527
Protein name Cyclin-dependent kinase inhibitor 1B (Cyclin-dependent kinase inhibitor p27) (p27Kip1)
Protein function Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA (PubMed:28666995). Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A
PDB 1H27 , 1JSU , 2AST , 5UQ3 , 6ATH , 6P8E , 6P8F , 6P8G , 7B5L , 7B5M , 7B5R , 7OR8 , 7ORG , 7ORH , 7ORS , 7ORT , 8BYA , 8BYL , 8BZO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02234 CDI 31 79 Cyclin-dependent kinase inhibitor Family
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney (at protein level) (PubMed:15509543). Expressed in all tissues tested (PubMed:8033212). Highest levels in skeletal muscle, lowest in liver and kidney (PubMed:8033212). {ECO:0000269|PubMed:15509543, ECO:0000269|PubMe
Sequence
MSNVRVSNGSPSLERMDARQAEHPKPSACRNLFGPVDHEELTRDLEKHCRDMEEASQRKW
NFDFQNHKPLEGKYEWQEV
EKGSLPEFYYRPPRPPKGACKVPAQESQDVSGSRPAAPLIG
APANSEDTHLVDPKTDPSDSQTGLAEQCAGIRKRPATDDSSTQNKRANRTEENVSDGSPN
AGSVEQTPKKPGLRRRQT
Sequence length 198
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Multiple Endocrine Neoplasia multiple endocrine neoplasia type 4 rs1592280833, rs786201010, rs1592281087, rs786201011, rs755301027, rs1060500186, rs1946487230, rs532903617, rs1946491613, rs1555085549, rs1946492962, rs1555085575, rs1349668409, rs1592280948, rs121917832
View all (2 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer hereditary nonpolyposis colon cancer N/A N/A GenCC
Diabetes Type 2 diabetes N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Hyperthyroidism Primary hyperparathyroidism N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Associate 22291433
Adenocarcinoma Associate 16731604, 18415709, 9927492
Adenocarcinoma Follicular Associate 16798934
Adenocarcinoma of Lung Associate 16551617, 22372491, 30375484
Adenoma Associate 34232602
Adenoma Inhibit 9033255, 9250163
Adenomatous Polyposis Coli Associate 15509520
Arthritis Rheumatoid Associate 21676922
Arthritis Rheumatoid Inhibit 22183962
Astrocytoma Associate 15367334, 18345413