Gene Gene information from NCBI Gene database.
Entrez ID 1030
Gene name Cyclin dependent kinase inhibitor 2B
Gene symbol CDKN2B
Synonyms (NCBI Gene)
CDK4IINK4BMTS2P15TP15p15INK4b
Chromosome 9
Chromosome location 9p21.3
Summary This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the ac
miRNA miRNA information provided by mirtarbase database.
65
miRTarBase ID miRNA Experiments Reference
MIRT016027 hsa-miR-374b-5p Sequencing 20371350
MIRT019955 hsa-miR-375 Microarray 20215506
MIRT027714 hsa-miR-98-5p Microarray 19088304
MIRT704749 hsa-miR-3617-5p HITS-CLIP 23313552
MIRT704748 hsa-miR-641 HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
12
Transcription factor Regulation Reference
BCL6 Repression 22723377
DNMT1 Unknown 19545050
EP300 Unknown 19419955;22000024
EZH2 Repression 21697275
FOXO3 Unknown 19419955
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity IBA
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity IDA 8078588
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity IEA
GO:0004861 Function Cyclin-dependent protein serine/threonine kinase inhibitor activity NAS 9230210
GO:0005515 Function Protein binding IPI 16169070, 16189514, 19447967, 21900206, 23455922, 23602568, 24981860, 25416956, 25910212, 26496610, 28514442, 31515488, 32296183, 32707033, 33961781, 35512704
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600431 1788 ENSG00000147883
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42772
Protein name Cyclin-dependent kinase 4 inhibitor B (Multiple tumor suppressor 2) (MTS-2) (p14-INK4b) (p15-INK4b) (p15INK4B)
Protein function Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is expressed in normal (keratinocytes, fibroblasts) and tumor cell lines. {ECO:0000269|PubMed:9230210}.
Sequence
MREENKGMPSGGGSDEGLASAAARGLVEKVRQLLEAGADPNGVNRFGRRAIQVMMMGSAR
VAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLA
EERGHRDVAGYLRTATGD
Sequence length 138
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  FoxO signaling pathway
Cell cycle
Cellular senescence
TGF-beta signaling pathway
Cushing syndrome
Human T-cell leukemia virus 1 infection
Pathways in cancer
Viral carcinogenesis
Small cell lung cancer
Gastric cancer
  SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
Cyclin D associated events in G1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
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
Malignant tumor of breast Likely pathogenic rs1554661619, rs2489397090, rs3217992 RCV003447432
RCV003447433
RCV003447434
RCV003447435
★★★★☆
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
Acute lymphoid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
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
Abetalipoproteinemia Abetalipoproteinemia BEFREE 10706859
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 18331779
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis LHGDN 18331779
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10073286, 10498617, 10634644, 10706859, 11413509, 12150726, 15737564, 15755508, 18384396, 27401303, 8555068, 8616035, 9447829
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10090949, 10430092, 10512159, 10706859, 11380466, 11413509, 12032783, 12357355, 14666292, 15737564, 15978938, 19837270, 20013897, 26333125, 26868379
View all (16 more)
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10634644, 11427447, 11532526, 20190193, 29552069
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 11283136, 12750706, 28052659
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 14696398
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 15189501, 19947923, 24618618
★☆☆☆☆
Found in Text Mining only