GenomeNet

Database: RefSeq
Entry: NP_665861
LinkDB: NP_665861
Original site: NP_665861 
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
//
DBGET integrated database retrieval system