CHEK2

GENE INFORMATION

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Gene name

CHEK2 (HGNC Symbol)

Synonyms

bA444G7, CDS1, CHK2, HuCds1, PP1425, RAD53

Description

Checkpoint kinase 2 (HGNC Symbol)

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]

Chromosome

22

Cytoband

q12.1

Chromosome location (bp)

28687743 - 28742422

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000183765 (version 78.38)

Entrez gene

11200

UniProt

O96017 (UniProt - Evidence at protein level)

neXtProt

NX_O96017

Antibodypedia

CHEK2 antibodies
 

PROTEIN VIEW

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 « 
 
CHEK2-002
 
CHEK2-003
 
CHEK2-005
 
CHEK2-006
 
CHEK2-010
 
CHEK2-011
 
CHEK2-012
 
CHEK2-013
 
CHEK2-017
 
CHEK2-018
 
CHEK2-019
 
CHEK2-021
 
CHEK2-022
 
CHEK2-201
 
CHEK2-202
 
 » 
 
 
 
 

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)

CHEK2-002 ENSP00000329178
ENST00000328354
O96017
Show all »
Show » Show » 543 60.9 No 1
CHEK2-003 ENSP00000372023
ENST00000382580
O96017
Show all »
Show » Show » 586 65.4 No 1
CHEK2-005 ENSP00000386087
ENST00000405598
O96017
Show all »
Show » Show » 543 60.9 No 1
CHEK2-006 ENSP00000385747
ENST00000404276
O96017
Show all »
Show » Show » 543 60.9 No 1
CHEK2-010 ENSP00000397478
ENST00000447421
B7ZBF6
Show all »
Show » Show » 298 33.9 No 0
CHEK2-011 ENSP00000390244
ENST00000425190
B7ZBF2
Show all »
Show » Show » 121 13.7 No 0
CHEK2-012 ENSP00000381099
ENST00000398017
B7ZBF8
Show all »
Show » Show » 172 19.3 Yes 0
CHEK2-013 ENSP00000408065
ENST00000439200
B7ZBF7
Show all »
Show » Show » 295 32.5 No 0
CHEK2-017 ENSP00000483777
ENST00000464581
Show » Show » 137 15.7 No 0
CHEK2-018 ENSP00000416721
ENST00000434810
Show » Show » 276 31.1 No 0
CHEK2-019 ENSP00000394430
ENST00000456369
Show » Show » 144 16.2 No 0
CHEK2-021 ENSP00000384919
ENST00000403642
O96017
Show all »
Show » Show » 452 50.2 No 1
CHEK2-022 ENSP00000384835
ENST00000402731
O96017
Show all »
Show » Show » 514 57.5 No 1
CHEK2-201 ENSP00000329012
ENST00000348295
O96017
Show all »
Show » Show » 514 57.5 No 1
CHEK2-202 ENSP00000372006
ENST00000382565
E7EPP1
Show all »
Show » Show » 207 23.1 No 0