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CDKN2B cyclin dependent kinase inhibitor 2B [ Homo sapiens (human) ]

Gene ID: 1030, updated on 20-Sep-2020

Summary

Official Symbol
CDKN2Bprovided by HGNC
Official Full Name
cyclin dependent kinase inhibitor 2Bprovided by HGNC
Primary source
HGNC:HGNC:1788
See related
Ensembl:ENSG00000147883 MIM:600431
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P15; MTS2; TP15; CDK4I; INK4B; p15INK4b
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 activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
Expression
Broad expression in colon (RPKM 20.3), small intestine (RPKM 17.6) and 17 other tissues See more
Orthologs

Genomic context

See CDKN2B in Genome Data Viewer
Location:
9p21.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (22002903..22009313, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (22002902..22009312, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene tubulin beta 8 class VIII pseudogene 1 Neighboring gene methylthioadenosine phosphorylase Neighboring gene CDKN2A divergent transcript Neighboring gene cyclin dependent kinase inhibitor 2A Neighboring gene CDKN2B antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 15403 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data.
GeneReviews: Not available
A common variant on chromosome 9p21 affects the risk of myocardial infarction.
GeneReviews: Not available
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
GeneReviews: Not available
A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.
GeneReviews: Not available
A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
GeneReviews: Not available
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
GeneReviews: Not available
A genome-wide association study of optic disc parameters.
GeneReviews: Not available
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
GeneReviews: Not available
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
GeneReviews: Not available
Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.
GeneReviews: Not available
Chromosome 7p11.2 (EGFR) variation influences glioma risk.
GeneReviews: Not available
Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
GeneReviews: Not available
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
GeneReviews: Not available
Genome-wide association meta-analysis identifies new endometriosis risk loci.
GeneReviews: Not available
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
GeneReviews: Not available
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
GeneReviews: Not available
Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
GeneReviews: Not available
Genome-wide association study identifies five new breast cancer susceptibility loci.
GeneReviews: Not available
Genome-wide association study identifies five susceptibility loci for glioma.
GeneReviews: Not available
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
GeneReviews: Not available
Genome-wide association study identifies three novel loci for type 2 diabetes.
GeneReviews: Not available
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
GeneReviews: Not available
Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction.
GeneReviews: Not available
Genome-wide association study of coronary artery disease in the Japanese.
GeneReviews: Not available
Genome-wide association study of intracranial aneurysm identifies three new risk loci.
GeneReviews: Not available
Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.
GeneReviews: Not available
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
GeneReviews: Not available
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
GeneReviews: Not available
Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
GeneReviews: Not available
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
GeneReviews: Not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
GeneReviews: Not available
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
GeneReviews: Not available
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
GeneReviews: Not available
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
GeneReviews: Not available
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin-dependent protein serine/threonine kinase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
cyclin-dependent protein serine/threonine kinase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to extracellular stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to nutrient IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
megakaryocyte differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
mitotic cell cycle checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
positive regulation of transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
spleen development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cyclin-dependent kinase 4 inhibitor B
Names
CDK inhibitory protein
CDK4B inhibitor
MTS-2
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
cyclin-dependent kinases 4 and 6 binding protein
multiple tumor suppressor 2
p14-INK4b
p14_CDK inhibitor
p14_INK4B
p15 CDK inhibitor
p15-INK4b
p15_INK4B

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023297.1 RefSeqGene

    Range
    5001..11411
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004936.4NP_004927.2  cyclin-dependent kinase 4 inhibitor B isoform 1

    See identical proteins and their annotated locations for NP_004927.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF488731, BC014469, BC018984, BI560960
    Consensus CDS
    CCDS6512.1
    UniProtKB/Swiss-Prot
    P42772
    UniProtKB/TrEMBL
    K7PPU3
    Related
    ENSP00000276925.6, ENST00000276925.7
    Conserved Domains (2) summary
    cd00204
    Location:21132
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:4676
    ANK; ANK repeat [structural motif]
  2. NM_078487.2NP_511042.1  cyclin-dependent kinase 4 inhibitor B isoform 2

    See identical proteins and their annotated locations for NP_511042.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a different splice site, which leads to a translation frame shift, when compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus when compared to isoform 1.
    Source sequence(s)
    AF004819, AF488731, BC014469, BC018984, BI560960
    Consensus CDS
    CCDS6513.1
    UniProtKB/Swiss-Prot
    P42772
    Related
    ENSP00000369487.4, ENST00000380142.5
    Conserved Domains (1) summary
    cl02529
    Location:2154
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    22002903..22009313 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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