CDKN2A

GENERAL INFORMATION

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Gene name

CDKN2A

Gene description

Cyclin-dependent kinase inhibitor 2A

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

11
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Tissue enhanced (testis)

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic and nuclear expression mainly in lymphatic tissues and certain glandular cells.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 3 antibodies.
CAB000093 , CAB000445 , CAB018232
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Breast



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (testis)

Organ

Expression



GENE INFORMATION

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Gene name

CDKN2A (HGNC Symbol)

Synonyms

ARF, CDK4I, CDKN2, CMM2, INK4, INK4a, MLM, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf

Description

Cyclin-dependent kinase inhibitor 2A (HGNC Symbol)

Entrez gene summary

This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]

Chromosome

9

Cytoband

p21.3

Chromosome location (bp)

21967753 - 21995301

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000147889 (version 78.38)

Entrez gene

1029

UniProt

P42771 (UniProt - Evidence at protein level), Q8N726 (UniProt - Evidence at protein level)

neXtProt

NX_P42771, NX_Q8N726

Antibodypedia

CDKN2A antibodies


PROTEIN BROWSER

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ENST00000304494
 
ENST00000361570
 
ENST00000479692
 
ENST00000494262
 
ENST00000497750
 
ENST00000498124
 
ENST00000498628
 
ENST00000530628
 
ENST00000578845
 
ENST00000579122
 
ENST00000579755
 
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PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CDKN2A-001 ENSP00000307101
ENST00000304494
P42771
Show all »
Show » Show » 156 16.5 No 0
CDKN2A-004 ENSP00000462950
ENST00000579755
Q8N726
Show all »
Show » Show » 132 13.9 No 0
CDKN2A-005 ENSP00000464952
ENST00000494262
P42771
Show all »
Show » Show » 105 11.2 Yes 0
CDKN2A-006 ENSP00000467857
ENST00000498628
P42771
Show all »
Show » Show » 105 11.2 Yes 0
CDKN2A-008 ENSP00000466887
ENST00000479692
K7ENC6
Show all »
Show » 121 12.7 Yes 0
CDKN2A-009 ENSP00000418915
ENST00000498124
P42771
Show all »
Show » Show » 167 17.9 No 0
CDKN2A-010 ENSP00000468510
ENST00000497750
K7ES20
Show all »
Show » 104 11.1 Yes 0
CDKN2A-013 ENSP00000432664
ENST00000530628
Q8N726
Show all »
Show » Show » 132 13.9 No 0
CDKN2A-014 ENSP00000464202
ENST00000579122
J3QRG6
Show all »
Show » 138 15 No 0
CDKN2A-015 ENSP00000467390
ENST00000578845
P42771
Show all »
Show » Show » 105 11.2 Yes 0
CDKN2A-201 ENSP00000355153
ENST00000361570
Q5ZEY9
Show all »
Show » 170 18.5 No 0