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GENE AND PROTEIN SUMMARY

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Gene name

CDKN2A

Description

cyclin-dependent kinase inhibitor 2A

Protein class

Candidate cancer biomarkers, Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

13 in total
0 with predicted TM region
5 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus

Additional location(s)

 

Staining summary

Staining of nucleus in all three cell lines.

Reliability (Single)

Antibodies in assay

CAB000445
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

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

Tissue specificity

Expressed in 19 out of 80 cell types

Reliability (APE)

Medium

Antibodies in assay

CAB000093, CAB000445, CAB018232
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 12
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 63% of the cancers

Antibodies in assay

CAB000093, CAB000445, CAB018232
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB000093

CAB000445

CAB000445

A-431 Skin Medium
Weak
A-549 Lung Not detected
CACO-2 Colon Medium
HEK 293 Embryonal kidney High
HeLa Cervix High
Hep-G2 Liver Medium
MCF-7 Pleural effusion Low
PC-3 Bone marrow High
RT-4 Urinary bladder Not detected
U-2 OS Bone Not detected
Weak
U-251 MG Brain Not detected
Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB000093 mAb
CAB000445 pAb
CAB018232 mAb