Human Gene CDKN2B (ENST00000276925.7_8) from GENCODE V47lift37
  Description: cyclin dependent kinase inhibitor 2B, transcript variant 1 (from RefSeq NM_004936.4)
Gencode Transcript: ENST00000276925.7_8
Gencode Gene: ENSG00000147883.12_10
Transcript (Including UTRs)
   Position: hg19 chr9:22,002,902-22,009,304 Size: 6,403 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr9:22,005,986-22,008,952 Size: 2,967 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:22,002,902-22,009,304)mRNA (may differ from genome)Protein (138 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CDN2B_HUMAN
DESCRIPTION: RecName: Full=Cyclin-dependent kinase 4 inhibitor B; AltName: Full=Multiple tumor suppressor 2; Short=MTS-2; AltName: Full=p14-INK4b; AltName: Full=p15-INK4b; Short=p15INK4B;
FUNCTION: Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest.
SUBUNIT: Heterodimer of CDKN2B with CDK4 or CDK6. Isoform 2 does not interact with CDK4 nor CDK6.
INTERACTION: P11802:CDK4; NbExp=3; IntAct=EBI-711280, EBI-295644;
SUBCELLULAR LOCATION: Cytoplasm. Note=Also found in the nucleus.
TISSUE SPECIFICITY: Isoform 2 is expressed in normal (keratinocytes, fibroblasts) and tumor cell lines.
SIMILARITY: Belongs to the CDKN2 cyclin-dependent kinase inhibitor family.
SIMILARITY: Contains 4 ANK repeats.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdkn2b/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CDKN2B
Diseases sorted by gene-association score: adult acute lymphocytic leukemia (20), scrotal carcinoma (20), skin melanoma (14), multiple endocrine neoplasia 1* (14), malignant melanoma, somatic* (12), nervous system cancer (12), lymphoblastic lymphoma (11), myxoid chondrosarcoma (10), acute lymphoblastic leukemia, childhood (10), mycosis fungoides (8), atypical neurofibroma (8), acute lymphocytic leukemia (7), urinary bladder cancer (6), papilloma (6), coronary restenosis (6), intracranial aneurysm (6), leukemia, acute lymphoblastic (6), hematologic cancer (6), skin sarcoma (6), grade iii astrocytoma (6), ewing's family of tumors (5), primary syphilis (5), miles-carpenter syndrome (4), myelodysplastic syndrome (4), lung cancer (4), venous malformations, multiple cutaneous and mucosal (4), leukemia, acute lymphoblastic 3 (4), astrocytoma (3), malignant glioma (3), open-angle glaucoma (3), esophageal cancer (3), oligodendroglioma (3), medulloblastoma (2), lymphoma, non-hodgkin (1), meningioma, familial (1), glaucoma 1, open angle, e (1), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.98 RPKM in Esophagus - Mucosa
Total median expression: 178.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -151.00352-0.429 Picture PostScript Text
3' UTR -781.303084-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom

SCOP Domains:
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on P42772
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity
GO:0005515 protein binding
GO:0019901 protein kinase binding

Biological Process:
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0000086 G2/M transition of mitotic cell cycle
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0007093 mitotic cell cycle checkpoint
GO:0008285 negative regulation of cell proliferation
GO:0030219 megakaryocyte differentiation
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0031658 negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle
GO:0031668 cellular response to extracellular stimulus
GO:0031670 cellular response to nutrient
GO:0042326 negative regulation of phosphorylation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048536 spleen development
GO:0050680 negative regulation of epithelial cell proliferation
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF488731 - Homo sapiens CDKN2B-related p15INK4B mRNA, 3'UTR.
BC018984 - Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4), mRNA (cDNA clone IMAGE:4328695), partial cds.
AF488410 - Homo sapiens cyclin-dependent kinase inhibitor mRNA, partial cds.
AF488411 - Homo sapiens clone 7-2 translocation breakpoint region.
BC014469 - Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4), mRNA (cDNA clone MGC:23110 IMAGE:4871014), complete cds.
JD254824 - Sequence 235848 from Patent EP1572962.
JD303871 - Sequence 284895 from Patent EP1572962.
JD510114 - Sequence 491138 from Patent EP1572962.
JD479101 - Sequence 460125 from Patent EP1572962.
JD331288 - Sequence 312312 from Patent EP1572962.
JD403670 - Sequence 384694 from Patent EP1572962.
JD315843 - Sequence 296867 from Patent EP1572962.
JD490818 - Sequence 471842 from Patent EP1572962.
LF213880 - JP 2014500723-A/21383: Polycomb-Associated Non-Coding RNAs.
LF206515 - JP 2014500723-A/14018: Polycomb-Associated Non-Coding RNAs.
JD552549 - Sequence 533573 from Patent EP1572962.
AF488409 - Homo sapiens cyclin-dependent kinase inhibitor (CDK4I) mRNA, partial sequence, alternatively spliced.
JD565233 - Sequence 546257 from Patent EP1572962.
JD516342 - Sequence 497366 from Patent EP1572962.
JD142015 - Sequence 123039 from Patent EP1572962.
JD320638 - Sequence 301662 from Patent EP1572962.
JD215541 - Sequence 196565 from Patent EP1572962.
JD495360 - Sequence 476384 from Patent EP1572962.
JD513356 - Sequence 494380 from Patent EP1572962.
JD493792 - Sequence 474816 from Patent EP1572962.
L36844 - Homo sapiens (clone p15INK4B/HA5) CDK inhibitory protein mRNA, complete cds.
JQ694046 - Homo sapiens isolate iPCH460_Col5 cyclin-dependent kinase inhibitor 2B (CDKN2B) mRNA, complete cds.
JQ694047 - Homo sapiens isolate iPCH460_Col9 cyclin-dependent kinase inhibitor 2B (CDKN2B) mRNA, complete cds.
JQ694048 - Homo sapiens isolate iPCH460_Col12 cyclin-dependent kinase inhibitor 2B (CDKN2B) mRNA, complete cds.
JX391994 - Homo sapiens P15 (CDKN2B) mRNA, complete cds.
JD408950 - Sequence 389974 from Patent EP1572962.
JD537822 - Sequence 518846 from Patent EP1572962.
AM393264 - Synthetic construct Homo sapiens clone IMAGE:100003000 for hypothetical protein (CDKN2B gene).
AM393391 - Synthetic construct Homo sapiens clone IMAGE:100002999 for hypothetical protein (CDKN2B gene).
CR536529 - Homo sapiens full open reading frame cDNA clone RZPDo834H0422D for gene CDKN2B, cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4); complete cds, incl. stopcodon.
AF004819 - Homo sapiens alternative spliced form of p15 CDK inhibitor mRNA, complete cds.
U17075 - Human p14-CDK inhibitor mRNA, complete cds.
AM392641 - Synthetic construct Homo sapiens clone IMAGE:100002750 for hypothetical protein (CDKN2B gene).
AM392962 - Synthetic construct Homo sapiens clone IMAGE:100002749 for hypothetical protein (CDKN2B gene).
AB462998 - Synthetic construct DNA, clone: pF1KB8434, Homo sapiens CDKN2B gene for cyclin-dependent kinase inhibitor 2B, without stop codon, in Flexi system.
JD157669 - Sequence 138693 from Patent EP1572962.
JD400426 - Sequence 381450 from Patent EP1572962.
JD200275 - Sequence 181299 from Patent EP1572962.
JD141586 - Sequence 122610 from Patent EP1572962.
JD485707 - Sequence 466731 from Patent EP1572962.
JD461638 - Sequence 442662 from Patent EP1572962.
JD073879 - Sequence 54903 from Patent EP1572962.
JD065160 - Sequence 46184 from Patent EP1572962.
JD104028 - Sequence 85052 from Patent EP1572962.
MA449457 - JP 2018138019-A/21383: Polycomb-Associated Non-Coding RNAs.
MA442092 - JP 2018138019-A/14018: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_g1Pathway - Cell Cycle: G1/S Check Point
h_cellcyclePathway - Cyclins and Cell Cycle Regulation

Reactome (by CSHL, EBI, and GO)

Protein P42772 (Reactome details) participates in the following event(s):

R-HSA-182594 Association of INK4 with CDK4/6
R-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
R-HSA-2559582 Senescence-Associated Secretory Phenotype (SASP)
R-HSA-69231 Cyclin D associated events in G1
R-HSA-2559580 Oxidative Stress Induced Senescence
R-HSA-2559585 Oncogene Induced Senescence
R-HSA-2173793 Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
R-HSA-2559583 Cellular Senescence
R-HSA-69236 G1 Phase
R-HSA-170834 Signaling by TGF-beta Receptor Complex
R-HSA-212436 Generic Transcription Pathway
R-HSA-2262752 Cellular responses to stress
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-9006936 Signaling by TGF-beta family members
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-162582 Signal Transduction
R-HSA-74160 Gene expression (Transcription)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: CDN2B_HUMAN, ENST00000276925.1, ENST00000276925.2, ENST00000276925.3, ENST00000276925.4, ENST00000276925.5, ENST00000276925.6, MTS2, NM_004936, O15125, P42772, Q6FI09, uc317jlw.1, uc317jlw.2
UCSC ID: ENST00000276925.7_8
RefSeq Accession: NM_004936.4
Protein: P42772 (aka CDN2B_HUMAN or CDN5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.