PALB2
From Wikipedia, the free encyclopedia
Partner and localizer of BRCA2
|
||||||||
Identifiers | ||||||||
Symbol(s) | PALB2; DKFZp667I166; DKFZp686E1054; FANCN; FLJ21816 | |||||||
External IDs | OMIM: 610355 MGI: 3040695 HomoloGene: 11652 | |||||||
|
||||||||
RNA expression pattern | ||||||||
Orthologs | ||||||||
Human | Mouse | |||||||
Entrez | 79728 | 233826 | ||||||
Ensembl | ENSG00000083093 | ENSMUSG00000044702 | ||||||
Uniprot | Q86YC2 | Q3U0P1 | ||||||
Refseq | NM_024675 (mRNA) NP_078951 (protein) |
XM_485999 (mRNA) XP_485999 (protein) |
||||||
Location | Chr 16: 23.52 - 23.56 Mb | Chr 7: 121.9 - 121.92 Mb | ||||||
Pubmed search | [1] | [2] |
Partner and localizer of BRCA2, also known as PALB2, is a human gene.[1]
This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2.[1]
[edit] References
[edit] Further reading
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi: . PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi: . PMID 14702039.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins.". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi: . PMID 15302935.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi: . PMID 15489334.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi: . PMID 16344560.
- Xia B, Sheng Q, Nakanishi K, et al. (2006). "Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.". Mol. Cell 22 (6): 719–29. doi: . PMID 16793542.
- Rahman N, Seal S, Thompson D, et al. (2007). "PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.". Nat. Genet. 39 (2): 165–7. doi: . PMID 17200668.
- Reid S, Schindler D, Hanenberg H, et al. (2007). "Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.". Nat. Genet. 39 (2): 162–4. doi: . PMID 17200671.
- Xia B, Dorsman JC, Ameziane N, et al. (2007). "Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.". Nat. Genet. 39 (2): 159–61. doi: . PMID 17200672.
- Erkko H, Xia B, Nikkilä J, et al. (2007). "A recurrent mutation in PALB2 in Finnish cancer families.". Nature 446 (7133): 316–9. doi: . PMID 17287723.
- Tischkowitz M, Xia B, Sabbaghian N, et al. (2007). "Analysis of PALB2/FANCN-associated breast cancer families.". Proc. Natl. Acad. Sci. U.S.A. 104 (16): 6788–93. doi: . PMID 17420451.