Gene Gene information from NCBI Gene database.
Entrez ID 1027
Gene name Cyclin dependent kinase inhibitor 1B
Gene symbol CDKN1B
Synonyms (NCBI Gene)
CDKN4KIP1MEN1BMEN4P27KIP1
Chromosome 12
Chromosome location 12p13.1
Summary 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.
1094
miRTarBase ID miRNA Experiments Reference
MIRT000137 hsa-miR-221-3p Luciferase reporter assayWestern blot 17569667
MIRT000137 hsa-miR-221-3p Luciferase reporter assayWestern blot 17569667
MIRT000131 hsa-miR-222-3p Luciferase reporter assayWestern blot 17569667
MIRT000131 hsa-miR-222-3p Luciferase reporter assayWestern blot 17569667
MIRT000137 hsa-miR-221-3p Luciferase reporter assay 17914108
Transcription factors Transcription factors information provided by TRRUST V2 database.
28
Transcription factor Regulation Reference
BRCA1 Activation 18025037
BRCA1 Unknown 16331276
COPS5 Repression 16951171
CUX1 Unknown 19332113
ESR1 Repression 17681750
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
87
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600778 1785 ENSG00000111276
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
38
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CDKN1B-related disorder Pathogenic rs1946491661 RCV003410348
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome Pathogenic; Likely pathogenic rs1292160956, rs1946498768, rs1202861028, rs1328655695, rs2136355372, rs2136356377, rs797044482, rs2136356126, rs2497405244, rs786201011, rs2497404197, rs2136355715, rs2497404448, rs2497404536, rs2497405447
View all (18 more)
RCV002334840
RCV002331497
RCV002334968
RCV002324404
RCV002425256
View all (29 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer Pathogenic rs1946487230 RCV005912473
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple endocrine neoplasia type 4 Pathogenic; Likely pathogenic rs1292160956, rs2136355351, rs2136355500, rs2136355706, rs2136355743, rs2136355975, rs2136356368, rs1946498768, rs2136355920, rs1202861028, rs1328655695, rs2136355372, rs2136355734, rs2136356377, rs2136355842
View all (42 more)
RCV001922605
RCV001385780
RCV001381151
RCV001389331
RCV001380515
View all (55 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHLORACNE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma LHGDN 16283443
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 20530095, 21778740, 25645465
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 22291433 Associate
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19963112, 7579355, 8605354, 8640833
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 15936816, 22072540, 25213837
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10697493, 24095829
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11499840, 12047142, 12670508, 15014027, 18172308, 20059402
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12085261, 14614018, 14707458, 15014027, 18415709
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11557114, 12356584, 21285982
★☆☆☆☆
Found in Text Mining only