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CHEK2 Gene

protein-coding GIFtS: 75

GC22M027408

CHK2 checkpoint homolog (S. pombe)
(Previous names: CHK2 (checkpoint, S.pombe) homolog )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: RAD53)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
CDS1 ^¹, ², ⁵
CHK2 ^¹, ², ³, ⁵
Cds1 ^³
EC 2.7.11.1 ^³
HuCds1 ^¹, ²
LFS2 ^², ⁵
OTTHUMP00000028871 ^²
PP1425 ^¹, ²
RAD53 ^², ³, ⁵
bA444G7 ^¹

Descriptions
CHK2 (checkpoint, S.pombe) homolog ^¹
CHK2 checkpoint homolog (S. pombe) ^²
checkpoint-like protein CHK2 ^²
protein kinase CHK2 ^²
serine/threonine-protein kinase CHK2 ^²

External Ids
HGNC: 16627¹
Entrez Gene: 11200²
UniProtKB: O96017³
Ensembl: ENSG00000183765⁷

Search outside databases for aliases for CHEK2 gene

Previous GC identifer: GC22M025779

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CHEK2:

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. Three

transcript variants encoding different isoforms have been found for this gene. [provided by

RefSeq]

UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017

Function: Regulates cell cycle checkpoints and apoptosis in response to DNA damage, particularly to

DNA double-strand breaks. Inhibits CDC25C phosphatase by phosphorylation on 'Ser-216', preventing

the entry into mitosis. May also play a role in meiosis. Regulates the TP53 tumor suppressor

through phosphorylation at 'Thr-18' and 'Ser-20'

Gene Wiki entry for CHEK2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CHEK2 gene

Entrez Gene cytogenetic band: 22q11|22q12.1 Ensembl cytogenetic band: 22q12.1 HGNC cytogenetic band: 22q12.1

CHEK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M027408: (about GC identifiers)

Start:	27,413,731 bp from pter
End:	27,467,822 bp from pter
Size:	54,092 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000022.9 NT_011520.11

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017 (See protein sequence)

Recommended Name: Serine/threonine-protein kinase Chk2

Size: 543 amino acids; 60915 Da

Cofactor: Magnesium

Subcellular location: Isoform 2: Nucleus. Note=Isoform 10 is present throughout the cell

Subcellular location: Isoform 4: Nucleus

Subcellular location: Isoform 7: Nucleus

Subcellular location: Isoform 9: Nucleus

Subcellular location: Isoform 12: Nucleus

PDB structures from and Proteopedia :

1GXC (3D)

2CN5 (3D)

2CN8 (3D)

2W0J (3D)

Secondary accessions: Q6QA03 Q6QA04 Q6QA05 Q6QA06 Q6QA07 Q6QA08 Q6QA10 Q6QA11 Q6QA12 Q6QA13 Q9HCQ8

Q9UGF0 Q9UGF1

Alternative splicing: 12 isoforms: O96017-1 O96017-2 O96017-3 O96017-4 O96017-5 O96017-6 O96017-7 O96017-8

O96017-9 O96017-10 O96017-11 O96017-12

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001005735.1 NP_009125.1 NP_665861.1

ENSEMBL proteins:

ENSP00000381099 ENSP00000371996 ENSP00000381103 ENSP00000372007 ENSP00000384919 ENSP00000372021

ENSP00000384835 ENSP00000386087 ENSP00000372023 ENSP00000385747 ENSP00000329012 ENSP00000329178

ENSP00000372003 ENSP00000372006

Human Recombinant Proteins

	Invitrogen human recombinant proteins for CHEK2
	Millipore Purified and/or Recombinant CHEK2 Protein
	Sigma-Aldrich Proteins for CHEK2
	R&D Systems Recombinant & Natural Proteins for CHEK2 (Chk2)
	Enzo Life Sciences proteins for CHEK2
	Recombinant Proteins from Abcam (Chk2)
	Human Recombinant Proteins from Abnova (CHEK2)

OriGene Purified Recombinant Human Protein: CHEK2

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0016605	PML body	IDA	12402044

About this table

Antibodies for CHEK2:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of CHEK2
	Sigma-Aldrich Antibody Arrays and Antibodies for CHEK2
	R&D Systems Antibodies for CHEK2 (Chk2)
	Cell Signaling Technology (CST) Antibodies for CHEK2 (Chk2)
	Antibodies from Abcam (Chk2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CHEK2)
	Novus Biologicals Antibodies for CHEK2

Assays for CHEK2:

	Invitrogen Assays for CHEK2
	Millipore Kits and Assays for the Analysis of CHEK2
	R&D Systems ELISAs for CHEK2 (Chk2) (see all)
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry O96017

ProtoNet protein and cluster: O96017

1 Blocks protein family: IPB000253 Forkhead-associated (FHA)

UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017

Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CHK2

subfamily

Similarity: Contains 1 FHA domain

Similarity: Contains 1 protein kinase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CHEK2)
		Millipore RNAi Products for the Analysis of CHEK2 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CHEK2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_007194

Applied Biosystems Silencer® siRNAs for CHEK2

Sigma-Aldrich siRNA and siRNA Panels for CHEK2

Sigma-Aldrich shRNA Panels and shRNA for CHEK2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for CHEK2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001005735
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001005735
untagged cDNA clones in CMV expression vector (see all 4): NM_001005735

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001005735

UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017

Function: Regulates cell cycle checkpoints and apoptosis in response to DNA damage, particularly to

DNA double-strand breaks. Inhibits CDC25C phosphatase by phosphorylation on 'Ser-216', preventing

the entry into mitosis. May also play a role in meiosis. Regulates the TP53 tumor suppressor

through phosphorylation at 'Thr-18' and 'Ser-20'

Catalytic activity: ATP + a protein = ADP + a phosphoprotein

Enzyme regulation: Rapidly phosphorylated on Thr-68 by MLTK in response to DNA damage and to

replication block. Kinase activity is also up-regulated by autophosphorylation

Enzyme Number (IUBMB): EC 2.7.11.1

6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Chek2):

cellular	hematopoietic system	homeostasis/metabolism	immune system	life span-post-weaning/aging
tumorigenesis

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000287	magnesium ion binding	IEA	--
GO:0004674	protein serine/threonine kinase activity	TAS	9836640
GO:0005515	protein binding	IPI	12402044
GO:0005524	ATP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for CHEK2 (Your Favorite Gene powered by Ingenuity) (see all 8 )

Role of BRCA1 in DNA Damage Response
ATM Signaling
Role of CHK Proteins in Cell Cycle Checkpoint Control
Molecular Mechanisms of Cancer
Mitotic Roles of Polo-Like Kinase

GeneDecks CHEK2 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for CHEK2

5/87 Interacting proteins for CHEK2 (ENSP00000372023³ O96017^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 87 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AATF	Q9NY61¹	STRING (score=.959) EBI-1180783, EBI-372428
PLK1	P53350¹	STRING (score=.909) EBI-1180783, EBI-476768
PPP2R5A	Q15172¹	STRING (score=.787) EBI-1180783, EBI-641666
PPP2R5B	Q15173¹	STRING (score=.797) EBI-1180783, EBI-1369497
PPP2R5E	Q16537¹	STRING (score=.787) EBI-1180783, EBI-968374

About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000077	DNA damage checkpoint	TAS	9889122 10617473
GO:0006468	protein amino acid phosphorylation	IEA	--
GO:0006974	response to DNA damage stimulus	TAS	9836640 9889122
GO:0007049	cell cycle	IEA	--
GO:0008630	DNA damage response, signal transduction resulting in induction of apoptosis	IDA	12402044

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for CHEK2:

Inhibitor

Compounds for CHEK2 available from Tocris Bioscience

Compound	Action	CAS number
NSC 109555 ditosylate	Selective Chk2 inhibitor	[15427-93-7]

About this table

10/16 Novoseek chemical compound relationships for CHEK2 gene (see all 16 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
debromohymenialdisine	89.50	6	15078995 (1), 19177354 (1), 16794575 (1), 17616632 (1)
irofulven	51.25	15	17118344 (5), 15269203 (5)
threonine	49.99	14	12805407 (2), 18287812 (2), 16596250 (1), 12663536 (1) (see all 10)
17-(allylamino)-17-demethoxygeldanamycin	37.53	2	14570880 (1)
bpde	36.87	6	11864911 (3), 17630511 (2), 15817457 (1)
wortmannin	25.95	3	10809772 (1), 14751515 (1), 15533933 (1)
mnng	22.06	5	15647386 (3), 15994368 (2)
isoleucine	8.30	1	12805407 (1)
phosphatidylinositol	6.32	2	11390408 (1), 16150728 (1)
calcium	0.48	2	17339337 (1), 17244621 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CHEK2)
		Millipore RNAi Products for the Analysis of CHEK2 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CHEK2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_007194

Sigma-Aldrich siRNA and siRNA Panels for CHEK2

Sigma-Aldrich shRNA Panels and shRNA for CHEK2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001005735 NM_007194 NM_145862

REFSEQ mRNAs for CHEK2 gene (3 alternative transcripts):

NM_001005735.1 NM_007194.3 NM_145862.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001005735 NM_007194 NM_145862

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001005735
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001005735
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_001005735

Additional cDNA sequence:

AB040105.1 AB164374.1 AF086904.1 AF096279.1 AF174135.1 AF217975.1 AJ131197.1 AJ783839.1

AK289360.1 AK290754.1 AY551295.1 AY551297.1 AY551299.1 AY551303.1 AY551304.1 BC004207.2

CR456418.1 CR595769.1 CR596630.1 CR602347.1 CR615398.1 CR617629.1 CR618816.1 CR619314.1

CR620861.1 CR622982.1 CR623156.1

17 DOTS entries:

DT.92436481 DT.100881584 DT.100881588 DT.92436482 DT.120637880 DT.40232891 DT.401799 DT.92436483

DT.97779954 DT.100753434 DT.100881593 DT.102832620 DT.97839203 DT.100734571 DT.100842973 DT.100695166

DT.102832622

24/54 AceView cDNA sequences (see all 54 ):

BM811398 AI203804 BI518530 AI826906 CB046828 AA804625 BC000004 AI796137

BQ054405 NM_172002 BU069809 BQ642442 BC065569 AI739537 BU195420 CR456462

AI141716 H93680 BE615999 BM852301 AW250733 BE327697 BE782421 BQ430738

highest scoring ESTs for CHEK2:

AA285249 AB164374 AF086904 AF217975 AU098702 BF215274 BI768609 BI911932 BM838597 BM906593

Unigene Cluster for CHEK2:

CHK2 checkpoint homolog (S. pombe)

Hs.291363 [show with all ESTs]

Unigene Representative Sequence: AF217975

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for CHEK2 (see all 17 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	^	7a	·	7b	^	8	^	9	^	10a	·	10b	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b	^	14	^	15a	·	15b	^
SP1:									-		-																-		-						-
SP2:															-		-										-								-
SP3:															-		-										-		-						-
SP4:															-		-						-		-				-						-
SP5:															-		-										-		-						-														-		-

ExUns:	16a	·	16b	^	17	^	18	^	19	^	20a	·	20b	·	20c
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for CHEK2

14 Ensembl transcripts including schematic representations:

ENST00000398017 ENST00000382556 ENST00000398021 ENST00000382566 ENST00000403642 ENST00000382578

ENST00000402731 ENST00000405598 ENST00000382580 ENST00000404276 ENST00000348295 ENST00000328354

ENST00000382563 ENST00000382565

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CHEK2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CHEK2

¹ / ² / ³

3 probe-sets matching CHEK2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
37887_at²^{, 3}	U95-A	2	1.00	0.81	1.00	1.00	AF086904	0.80	1.00	0.91	1
210416_s_at²^{, 3}	U133-A	2	1.00	0.91	--	--	BC004207	0.60	0.75	0.68	1
210416_s_at²	U133Plus2	2	1.00	0.91	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.291363
Expression variation in blood from EXPOLDB for CHEK2
UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017
Tissue specificity: High expression is found in testis, spleen, colon and peripheral blood
leukocytes. Low expression is found in other tissues

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CHEK2 gene from 5/20 species (see all 20 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CHEK2¹	--	CHK2 checkpoint homolog (S. pombe)	89.01(n) 90.5(a)	486338 XM_543464.2 XP_543464.2
chimpanzee (Pan troglodytes)	CHEK2¹	--	CHK2 checkpoint homolog (S. pombe)	99.82(n) 99.82(a)	458733 XM_001172769.1 XP_001172769.1
cow (Bos taurus)	CHEK2¹	--	CHK2 checkpoint homolog (S. pombe)	87.49(n) 87.8(a)	518897 NM_001034531.1 NP_001029703.1
rat (Rattus norvegicus)	Chek2¹	--	CHK2 checkpoint homolog (S. pombe)	83.93(n) 85.63(a)	114212 NM_053677.1 NP_446129.1
mouse (Mus musculus)	Chek2^{1, 5}	5⁵	CHK2 checkpoint homolog (S. pombe)^{1, 5}	83.62(n)¹ 85.44(a)¹	50883¹ NM_016681.3¹ NP_057890.1¹ AF086905⁵ AK044913⁵ (see all 8)

About this table Species with no ortholog for CHEK2

ENSEMBL Gene Tree for CHEK2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for CHEK2 gene

PRKD2² PRKD3² PRKD1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/447 NCBI SNPs in CHEK2 are shown (see all 447 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 125)

AB	SNP ID	Valid	Chr 22 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs17884403^1,2	F	27413867(-)	`GAACAC/TGAAAG`	3	--	ut3¹ ese³		1		NS	142
--	rs17879961^1,2	C	27451087(-)	`TTACAT/CTGCAT`	3	T/I	mis¹		1		NS	180
--	rs12628399^1,2	C	27413520(+)	`aaattA/Cacagg`	3	--	ng5¹		0	--	--	--	--
--	rs17883954^1,2	F	27413326(-)	`TGGCTA/GTCACT`	3	--	ng5¹		1		NS	178
	rs28909980^1,2	C	27422945(-)	`ACCGTG/AACTTA`	3	N/D	mis¹ int¹ ese³		5		EU EA WA	612
--	rs17883862^1,2	F	27460456(-)	`AGAACC/TTGAGG`	3	P/L	mis¹ ese³		1		NS	126
--	rs1805129^1,2	A,C,F,H	27460458(-)	`CAAGAA/GCCTGA`	3	E/E	syn¹		9		EU EA WA NA NS	878
--	rs17886242^1,2	F	27413909(-)	`CGCCCA/GGCTGT`	3	P/P	syn¹ ese³		1		NS	144
	rs743185^1,2	A,C,F,H,O	27433217(-)	`TTTCCC/TAGTAT`	3	--	int¹		17		NA EA EU WA	1220
	rs738722^1,2	A,C,F,H,O	27460012(+)	`AGGCGC/TCAATC`	3	--	int¹		9		MN EU EA WA NA NS	848

About this table

HapMap Linkage Disequilibrium images for CHEK2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 604373

UniProtKB/Swiss-Prot: CHK2_HUMAN, O96017

Defects in CHEK2 are associated with Li-Fraumeni syndrome 2 (LFS2) [MIM:609265]; a highly

penetrant familial cancer phenotype usually associated with inherited mutations in p53/TP53

Defects in CHEK2 are found in some patients with prostate cancer (CaP) [MIM:176807]

Defects in CHEK2 are found in some patients with osteosarcoma (OSRC) [MIM:259500]

10/42 Novoseek disease relationships for CHEK2 gene (see all 42 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
ataxia telangiectasia	89.13	57	12192050 (3), 11085506 (2), 16905549 (2), 16322218 (2) (see all 39)
li-fraumeni syndrome	82.45	22	11053450 (2), 14648717 (1), 11248330 (1), 11011113 (1) (see all 15)
germ-line mutation	70.02	12	17661168 (2), 14701743 (1), 11479205 (1), 16452051 (1) (see all 10)
nijmegen breakage syndrome	67.98	1	11438675 (1)
cancer	58.28	83	15361833 (4), 16024600 (3), 11746983 (3), 11857075 (3) (see all 45)
breast cancer	54.53	118	11461078 (5), 16671833 (5), 11857075 (5), 18085035 (4) (see all 46)
bilateral breast cancer	53.25	2	19372713 (2)
lymphoid neoplasm	45.04	1	12393693 (1)
tumors	44.04	101	12393693 (5), 15942682 (4), 17178848 (4), 16437383 (3) (see all 45)
ovarian cancer	39.68	16	14507240 (3), 19338682 (2), 16596250 (1), 17380889 (1) (see all 9)

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GeneTests: CHEK2

Li-Fraumeni Syndrome

Human Gene Mutation Database: CHEK2
Genetic Association Database: CHEK2
Human Genome Epidemiology Navigator: CHEK2 (115 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/548 PubMed articles for CHEK2 gene (see all 548 ):

Association of two mutations in the CHEK2 gene with breast cancer. (PubMed id 15810020)^{1, 3, 4, 6} Bogdanova N.... Doerk T. (2005)
Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype. (PubMed id 15818573)^{1, 3, 4, 6} van Puijenbroek M.... Morreau H. (2005)
A novel founder CHEK2 mutation is associated with increased prostate cancer risk. (PubMed id 15087378)^{1, 3, 4, 6} Cybulski C.... Lubinski J. (2004)
Limited relevance of the CHEK2 gene in hereditary breast cancer. (PubMed id 15095295)^{1, 3, 4, 6} Dufault M.R.... Arnold N. (2004)
CHEK2 is a multiorgan cancer susceptibility gene. (PubMed id 15492928)^{1, 3, 4, 6} Cybulski C.... Lubinski J. (2004)
CHEK2 variants associate with hereditary prostate cancer. (PubMed id 14612911)^{1, 3, 4, 6} Seppaelae E.H.... Schleutker J. (2003)
CHEK2 variant I157T may be associated with increased breast cancer risk. (PubMed id 15239132)^{1, 3, 4, 6} Kilpivaara O.... Nevanlinna H. (2004)
Frequency of CHEK2 mutations in a population based, case-control study of breast cancer in young women. (PubMed id 15535844)^{1, 3, 4, 6} Friedrichsen D.M....Ostrander E.A. (2004)
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. (PubMed id 15649950)^{3, 4, 6} Shaag A....King M.-C. (2005)
CHEK2 variants in susceptibility to breast cancer and evidence of retention of the wild type allele in tumours. (PubMed id 12454775)^{3, 4, 6} Sodha N....Eeles R.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 11200	HGNC: 16627	AceView: HSC20	Ensembl:ENSG00000183765	euGenes: HUgn11200
ECgene: CHEK2	H-InvDB: CHEK2

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for CHEK2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=CHEK2
NIEHS-SNPs	http://egp.gs.washington.edu/data/chek2/

Licensable Technologies for CHEK2
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for CHEK2:

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Antibodies & Assays for CHEK2 (Chk2)

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Antibodies for CHEK2

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CHEK2 Gene

protein-coding GIFtS: 75

Aliases &
Descriptions
for CHEK2

Summaries
for CHEK2

Genomic Location
for CHEK2

Proteins
for CHEK2

Protein Domains/
Families
for CHEK2

Gene Function
for CHEK2

Pathways & Interactions
for CHEK2

Drugs & Compounds
for CHEK2

Transcripts
for CHEK2

Expression
for CHEK2

Orthologs
for CHEK2

Paralogs
for CHEK2

SNPs/Variants
for CHEK2

Disorders & Mutations
for CHEK2

Medical News
for CHEK2

Publications
for CHEK2

Search for CHEK2

Genome Databases showing CHEK2

Other Databases showing CHEK2

Specialized Databases showing CHEK2

Licensable Technologies
for CHEK2

Services
for CHEK2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CHEK2 Gene

protein-coding GIFtS: 75

Aliases & Descriptionsfor CHEK2

Summariesfor CHEK2

Genomic Locationfor CHEK2

Proteinsfor CHEK2

Protein Domains/Familiesfor CHEK2

Gene Functionfor CHEK2

Pathways & Interactionsfor CHEK2

Drugs & Compoundsfor CHEK2

Transcriptsfor CHEK2

Expression for CHEK2

Orthologsfor CHEK2

Paralogsfor CHEK2

SNPs/Variantsfor CHEK2

Disorders & Mutationsfor CHEK2

Medical Newsfor CHEK2

Publicationsfor CHEK2

Search for CHEK2

Genome Databases showing CHEK2

Other Databases showing CHEK2

Specialized Databases showing CHEK2

Licensable Technologiesfor CHEK2

Servicesfor CHEK2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CHEK2

Summaries
for CHEK2

Genomic Location
for CHEK2

Proteins
for CHEK2

Protein Domains/
Families
for CHEK2

Gene Function
for CHEK2

Pathways & Interactions
for CHEK2

Drugs & Compounds
for CHEK2

Transcripts
for CHEK2

Expression
for CHEK2

Orthologs
for CHEK2

Paralogs
for CHEK2

SNPs/Variants
for CHEK2

Disorders & Mutations
for CHEK2

Medical News
for CHEK2

Publications
for CHEK2

Licensable Technologies
for CHEK2

Services
for CHEK2