PALB2

PALB2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2W18, 3EU7
Dynodwyr
Cyfenwau	PALB2, FANCN, PNCA3, partner and localizer of BRCA2
Dynodwyr allanol	OMIM: 610355 HomoloGene: 11652 GeneCards: PALB2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • DNA binding • GO:0001948, GO:0016582 protein binding Cydrannau o'r gell • nucleoplasm • cnewyllyn cell Prosesau biolegol • animal organ morphogenesis • somitogenesis • post-anal tail morphogenesis • cellular response to DNA damage stimulus • DNA recombination • mesoderm development • negative regulation of apoptotic process • in utero embryonic development • multicellular organism growth • embryonic organ development • inner cell mass cell proliferation • GO:0100026 DNA repair • double-strand break repair via homologous recombination Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	79728	n/a
Ensembl	ENSG00000083093	n/a
UniProt	Q86YC2	n/a
RefSeq (mRNA)	NM_024675	n/a
RefSeq (protein)	NP_078951	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PALB2 yw PALB2 a elwir hefyd yn Partner and localizer of BRCA2 (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 16, band 16p12.2.

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 PALB2.

• FANCN
• PNCA3

Llyfryddiaeth

• "Characterization of a novel germline PALB2 duplication in a hereditary breast and ovarian cancer family. ". Breast Cancer Res Treat. 2016. PMID 27757719.
• "Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene. ". Cancer. 2017. PMID 27648926.
• "PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland. ". BMC Med Genomics. 2017. PMID 28279176.
• "A high frequency of PALB2 mutations in Jamaican patients with breast cancer. ". Breast Cancer Res Treat. 2017. PMID 28194609.
• "Cancer-causing mutations in the tumor suppressor PALB2 reveal a novel cancer mechanism using a hidden nuclear export signal in the WD40 repeat motif.". Nucleic Acids Res. 2017. PMID 28158555.