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genyn codio-protien yn y rhywogaeth Homo sapiens

CHEK2

CHEK2
All data from the card 12
PDB
Human UniProt search: PDBe RCSB
Cyfenwau
CHEK2, CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53, hCds1, checkpoint kinase 2
Dynodwyr allanol
OMIM: 604373 HomoloGene: 38289 GeneCards: CHEK2
EC number
2.7.11.1
Cydrannau o'r gell
• PML body• Golgi apparatus• nucleoplasm• telomere• cnewyllyn cell• cytoplasm
Species
Bod dynol
Entrez
11200
Ensembl
ENSG00000183765
UniProt
O96017
RefSeq (mRNA)
NM_001005735NM_001257387NM_007194NM_145862NM_001349956
RefSeq (protein)
NP_001005735NP_001244316NP_009125NP_665861NP_001336885
Lleoliad (UCSC)
n/a

Protein sy'n cael ei godio yn y corff dynol gan y genyn CHEK2 yw CHEK2 a elwir hefyd yn Serine/threonine-protein kinase Chk2 a Checkpoint kinase 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 22, band 22q12.1.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn CHEK2.

  • CDS1
  • CHK2
  • LFS2
  • RAD53
  • hCds1
  • HuCds1
  • PP1425

Llyfryddiaeth

  • "Condensin recruitment to chromatin is inhibited by Chk2 kinase in response to DNA damage. ". Cell Cycle. 2016. PMID 27792460.
  • "Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers. ". Cancer Genet. 2016. PMID 27751358.
  • "Clarifying the biological significance of the CHK2 K373E somatic mutation discovered in The Cancer Genome Atlas database. ". FEBS Lett. 2016. PMID 27716909.
  • "Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan. ". Asian Pac J Cancer Prev. 2016. PMID 27510020.
  • "Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.". Medicine (Baltimore). 2016. PMID 27442652.

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Text from Wikipedia, CC BY-SA 4.0 · Source article