LOCUS NP_665861 514 aa linear PRI 01-JAN-2024
DEFINITION serine/threonine-protein kinase Chk2 isoform b [Homo sapiens].
ACCESSION NP_665861
VERSION NP_665861.1
DBSOURCE REFSEQ: accession NM_145862.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 514)
AUTHORS Infante M, Arranz-Ledo M, Lastra E, Olaverri A, Ferreira R, Orozco
M, Hernandez L, Martinez N and Duran M.
TITLE Profiling of the genetic features of patients with breast, ovarian,
colorectal and extracolonic cancers: Association to CHEK2 and PALB2
germline mutations
JOURNAL Clin Chim Acta 552, 117695 (2024)
PUBMED 38061684
REMARK GeneRIF: Profiling of the genetic features of patients with breast,
ovarian, colorectal and extracolonic cancers: Association to CHEK2
and PALB2 germline mutations.
REFERENCE 2 (residues 1 to 514)
AUTHORS Wu Q, Fang C, Wang X, Huang S and Weng G.
TITLE CHEK2 is a potential prognostic biomarker associated with immune
infiltration in clear cell renal cell carcinoma
JOURNAL Sci Rep 13 (1), 21928 (2023)
PUBMED 38081888
REMARK GeneRIF: CHEK2 is a potential prognostic biomarker associated with
immune infiltration in clear cell renal cell carcinoma.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 514)
AUTHORS Mundt E, Mabey B, Rainville I, Ricker C, Singh N, Gardiner A,
Manley S and Slavin T Jr.
TITLE Breast and colorectal cancer risks among over 6,000 CHEK2
pathogenic variant carriers: A comparison of missense versus
truncating variants
JOURNAL Cancer Genet 278-279, 84-90 (2023)
PUBMED 37839337
REMARK GeneRIF: Breast and colorectal cancer risks among over 6,000 CHEK2
pathogenic variant carriers: A comparison of missense versus
truncating variants.
REFERENCE 4 (residues 1 to 514)
AUTHORS Tu R, Zhong D, Li P, Li Y, Chen Z, Hu F, Yuan G, Chen Z, Yu S and
Song J.
TITLE PTPN13 rs989902 and CHEK2 rs738722 are associated with esophageal
cancer
JOURNAL Ann Med 55 (2), 2281659 (2023)
PUBMED 38039548
REMARK GeneRIF: PTPN13 rs989902 and CHEK2 rs738722 are associated with
esophageal cancer.
REFERENCE 5 (residues 1 to 514)
AUTHORS Jakub R, Filip M, Daniel B, Jolanta H, Tomasz H, Cezary C, Jan L,
Wenancjusz D and Domagala P.
TITLE Nuclear expression of Ku70/80 is associated with CHEK2 germline
mutations in breast cancer
JOURNAL Pol J Pathol 74 (2), 75-81 (2023)
PUBMED 37728466
REMARK GeneRIF: Nuclear expression of Ku70/80 is associated with CHEK2
germline mutations in breast cancer.
REFERENCE 6 (residues 1 to 514)
AUTHORS Martinho RG, Lindsay HD, Flaggs G, DeMaggio AJ, Hoekstra MF, Carr
AM and Bentley NJ.
TITLE Analysis of Rad3 and Chk1 protein kinases defines different
checkpoint responses
JOURNAL EMBO J 17 (24), 7239-7249 (1998)
PUBMED 9857181
REFERENCE 7 (residues 1 to 514)
AUTHORS Matsuoka S, Huang M and Elledge SJ.
TITLE Linkage of ATM to cell cycle regulation by the Chk2 protein kinase
JOURNAL Science 282 (5395), 1893-1897 (1998)
PUBMED 9836640
REFERENCE 8 (residues 1 to 514)
AUTHORS Lindsay HD, Griffiths DJ, Edwards RJ, Christensen PU, Murray JM,
Osman F, Walworth N and Carr AM.
TITLE S-phase-specific activation of Cds1 kinase defines a subpathway of
the checkpoint response in Schizosaccharomyces pombe
JOURNAL Genes Dev 12 (3), 382-395 (1998)
PUBMED 9450932
REFERENCE 9 (residues 1 to 514)
AUTHORS Lykidis A, Jackson PD, Rock CO and Jackowski S.
TITLE The role of CDP-diacylglycerol synthetase and phosphatidylinositol
synthase activity levels in the regulation of cellular
phosphatidylinositol content
JOURNAL J Biol Chem 272 (52), 33402-33409 (1997)
PUBMED 9407135
REFERENCE 10 (residues 1 to 514)
AUTHORS Peng CY, Graves PR, Thoma RS, Wu Z, Shaw AS and Piwnica-Worms H.
TITLE Mitotic and G2 checkpoint control: regulation of 14-3-3 protein
binding by phosphorylation of Cdc25C on serine-216
JOURNAL Science 277 (5331), 1501-1505 (1997)
PUBMED 9278512
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BM838597.1, AY551299.1 and
AW778747.1.
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].
Transcript Variant: This variant (2) lacks an alternate in-frame
exon compared to variant 1. The resulting isoform (b) has the same
N- and C-termini but is shorter compared to isoform a.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR11853561.19821.1,
SRR14038191.4343490.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..514
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q12.1"
Protein 1..514
/product="serine/threonine-protein kinase Chk2 isoform b"
/EC_number="2.7.11.1"
/note="checkpoint-like protein CHK2;
serine/threonine-protein kinase CHK2; CHK2 checkpoint
homolog; cds1 homolog"
/calculated_mol_wt=57395
Region 93..204
/region_name="FHA_CHK2"
/note="forkhead associated (FHA) domain found in
checkpoint kinase 2 (Chk2) and similar proteins; cd22666"
/db_xref="CDD:438718"
Site order(117..119,136..141,166,192)
/site_type="other"
/note="phosphopeptide binding site [polypeptide binding]"
/db_xref="CDD:438718"
Region 213..457
/region_name="PKc_like"
/note="Protein Kinases, catalytic domain; cl21453"
/db_xref="CDD:451246"
CDS 1..514
/gene="CHEK2"
/gene_synonym="CDS1; CHK2; hCds1; HuCds1; LFS2; PP1425;
RAD53; TPDS4"
/coded_by="NM_145862.2:73..1617"
/note="isoform b is encoded by transcript variant 2"
/db_xref="CCDS:CCDS13844.1"
/db_xref="GeneID:11200"
/db_xref="HGNC:HGNC:16627"
/db_xref="MIM:604373"
ORIGIN
1 msresdveaq qshgssacsq phgsvtqsqg sssqsqgiss sststmpnss qsshsssgtl
61 ssletvstqe lysipedqep edqepeeptp apwarlwalq dgfanlecvn dnywfgrdks
121 ceycfdepll krtdkyrtys kkhfrifrev gpknsyiayi edhsgngtfv ntelvgkgkr
181 rplnnnseia lslsrnkvfv ffdltvddqs vypkalrdey imsktlgsga cgevklafer
241 ktckkvaiki iskrkfaigs areadpalnv eteieilkkl nhpciikikn ffdaedyyiv
301 lelmeggelf dkvvgnkrlk eatcklyfyq mllavqitdf ghskilgets lmrtlcgtpt
361 ylapevlvsv gtagynravd cwslgvilfi clsgyppfse hrtqvslkdq itsgkynfip
421 evwaevseka ldlvkkllvv dpkarfttee alrhpwlqde dmkrkfqdll seenestalp
481 qvlaqpstsr krpregeaeg aettkrpavc aavl
//