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GENE AND PROTEIN SUMMARY

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Gene name

CHEK2

Description

checkpoint kinase 2

Protein class

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

Protein evidence

High

Entrez gene summary

In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

24 in total
9 with predicted TM region
1 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Nuclear expression in most tissues.

Tissue specificity

Expressed in 58 out of 81 cell types

Reliability (APE)

Low

Antibodies in assay

HPA001878, CAB002030
 

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 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 64% of the cancers

Antibodies in assay

HPA001878, CAB002030
 

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

HPA001878

CAB002030

 

A-431 Skin Medium

-

A-549 Lung Medium

-

CACO-2 Colon Medium

-

HEK 293 Embryonal kidney High

-

HeLa Cervix Medium

-

Hep-G2 Liver High

-

-

MCF-7 Pleural effusion High

-

PC-3 Bone marrow Medium

-

RT-4 Urinary bladder Medium

-

U-2 OS Bone Medium

-

U-251 MG Brain Medium

-

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA001878 pAb
CAB002030 mAb