BRCA2

BRCA2
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 1N0W, 3EU7
Identifikatori
Aliasi	BRCA2
Vanjski ID-jevi	OMIM: 600185 MGI: 109337 HomoloGene: 41 GeneCards: BRCA2
Lokacija gena (čovjek) Hrom. Hromosom 13 (čovjek)[1] Bend 13q13.1 Početak 32,315,086 bp[1] Kraj 32,400,268 bp[1]
Lokacija gena (miš) Hrom. Hromosom 5 (miš)[2] Bend 5 G3|5 89.52 cM Početak 150,446,095 bp[2] Kraj 150,493,794 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • vezivanje sa DNK • H4 histone acetyltransferase activity • H3 histone acetyltransferase activity • protease binding • histone acetyltransferase activity • GO:0001948, GO:0016582 vezivanje za proteine • gamma-tubulin binding • single-stranded DNA binding • protein C-terminus binding • vezivanje identičnih proteina Ćelijska komponenta • centrosom • BRCA2-MAGE-D1 complex • secretory granule • nukleoplazma • centar organizacije mikrotubula • jedro • citoskelet • lateralni element • citoplazma • citosol • GO:0009327 makromolekulani kompleks Biološki proces • chordate embryonic development • Popravak ekscizijom nukleotida • intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator • DNA recombination • regulation of cytokinesis • replication fork protection • centrosome duplication • male meiosis I • negative regulation of mammary gland epithelial cell proliferation • positive regulation of mitotic cell cycle • GO:0051312, GO:0007083 chromosome organization • female gonad development • inner cell mass cell proliferation • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • telomere maintenance via recombination • brain development • oocyte maturation • histone H3 acetylation • Spermatogeneza • intrinsic apoptotic signaling pathway in response to DNA damage • establishment of protein localization to telomere • histone H4 acetylation • cellular response to DNA damage stimulus • ćelijski ciklus • Ćelijska proliferacija • response to gamma radiation • response to UV-C • response to X-ray • DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator • GO:1903211 mitotic recombination-dependent replication fork processing • double-strand break repair via homologous recombination • GO:0100026 Popravka DNK • double-strand break repair • mitotic cytokinesis • Hematopoeza • response to nutrient • meiotic DNA repair synthesis involved in reciprocal meiotic recombination • mammary gland development • homologous chromosome orientation involved in meiotic metaphase I plate congression • response to estradiol • multicellular organism growth • DNA synthesis involved in double-strand break repair via homologous recombination • Kontrolna tačka mejotske rekombinacije Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	675	12190
Ensembl	ENSG00000139618	ENSMUSG00000041147
UniProt	P51587	P97929
RefSeq (mRNK)	NM_000059	NM_001081001 NM_009765
RefSeq (bjelančevina)	NP_000050	NP_001074470 NP_033895
Lokacija (UCSC)	Chr 13: 32.32 – 32.4 Mb	Chr 5: 150.45 – 150.49 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Ponavljanje BRCA2
Kristalna struktura ponavlajajućeg kompleksa rad51-brca2
Identifikatori
Simbol	BRCA2

BRCA-2 heliks
Struktura kompleksa brca2-dss1
Identifikatori
Simbol	BRCA-2_helical

BRCA2, oligonukleotid/oligosaharid-vezujući domen 1
Struktura kompleksa brca2-dss1
Identifikatori
Simbol	BRCA-2_OB1

BRCA2, oligonuKleotid/oligosaharid-vezujući domen 3
Struktura kompleksa brca2-dss1
Identifikatori
Simbol	BRCA-2_OB3

Domrn Tower
Struktura kompleksa brca2-dss1
Identifikatori
Simbol	Tower

BRCA2^[5]) je ljudski gen, odnosno njegov proteinski proizvod. Službeni simbol (BRCA2, kurziv za gen, neitalik za protein) i službeni naziv (izvorno rak dojke 2, sada BRCA2 vezana popravka DNK) su podržane u HUGO Odboru za gensku nomenklaturu. Jedan alternativni simbol, FANCD1, prepoznaje njegovu povezanost sa kompleksom FANC proteina. Ortolozi, oblikovani kao Brca2 i Brca2, česti su i kod drugih kičmenjačnih vrsta.^[6][7] BRCA2 ie tumor-supresorski gen^[8][9] (posebno, domćinski gen), koji se nalazi u svih ljudi; njegov protein, koji se sinonimno naziva i protein osjetljiv na rak dojke tipa 2, odgovoran je za popravak DNK.^[10]

BRCA2 i BRCA1 se normalno eksprimiraju u ćelijamama dojke i drugog tkiva, gdje pomažu u obnavljanju oštećene DNK ili uništavanju ćelija ako se DNK ne može popraviti. Uključeni su u popravak oštećenja hromosoma, s važnom ulogom u popravakama greašaka u formiranju dvostrukih lanaca.^[11][12] Ako je sam BRCA1 ili BRCA2 oštećen BRCA mutacijama, oštećena DNK se ne popravlja ispravno, a to povećava rizik od raka dojke.^[13][14] BRCA1 i BRCA2 opisani su kao "geni osjetljivosti na rak dojke" i "proteini osjetljivosti na rak dojke". Prevladavajući alel ima normalnu tumor-supresivnu funkciju, dok visoko penetrirane mutacije u tim genima uzrokuju gubitak tumorske supresivne funkcije, što je u korelaciji s povećanim rizikom od raka dojke.^[15]

Gen BRCA2 nalazi se na dugom (q) kraku hromosoma 13, na poziciji 12.3 (13q12.3).^[16] Ljudski referentni gen BRCA2 sadrži 27 egzona, a and the cDNK ima 10.254 baznih parova^[17] za kodiranje proteina od 3.418 aminokiselina.^[18][19] Karcinom dojke (uključujući i muški): Međuodnosi fenotip – genotip^[20][21][22]

1. ^ ^{a b c} GRCh38: Ensembl release 89: ENSG00000139618 - Ensembl, maj 2017
2. ^ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000041147 - Ensembl, maj 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ Hamel PJ (29. 5. 2007). "BRCA1 and BRCA2: No Longer the Only Troublesome Genes Out There". HealthCentral. Pristupljeno 2. 7. 2010.
6. ^ "OrthoMaM phylogenetic marker: BRCA2 coding sequence". Arhivirano s originala, 3. 3. 2016. Pristupljeno 19. 2. 2010.
7. ^ "BRCA2 gene tree". Ensembl.
8. ^ Duncan JA, Reeves JR, Cooke TG (oktobar 1998). "BRCA1 and BRCA2 proteins: roles in health and disease". Molecular Pathology. 51 (5): 237–47. doi:10.1136/mp.51.5.237. PMC 395646. PMID 10193517.
9. ^ Yoshida K, Miki Y (novembar 2004). "Role of BRCA1 and BRCA2 as regulators of DNA repair, transcription, and cell cycle in response to DNA damage". Cancer Science. 95 (11): 866–71. doi:10.1111/j.1349-7006.2004.tb02195.x. PMID 15546503. S2CID 24297965.
10. ^ Check W (1. 9. 2006). "BRCA: What we know now". College of American Pathologists. Pristupljeno 23. 8. 2010.
11. ^ Friedenson B (august 2007). "The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers". BMC Cancer. 7 (1): 152–162. doi:10.1186/1471-2407-7-152. PMC 1959234. PMID 17683622.
12. ^ Friedenson B (8. 6. 2008). "Breast cancer genes protect against some leukemias and lymphomas" (video). SciVee.
13. ^ "Breast and Ovarian Cancer Genetic Screening". Palo Alto Medical Foundation. Arhivirano s originala, 4. 10. 2008. Pristupljeno 11. 10. 2008.
14. ^ Friedenson B (2007). "The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers". BMC Cancer. 7 (1): 152. doi:10.1186/1471-2407-7-152. PMC 1959234. PMID 17683622.
15. ^ O'Donovan PJ, Livingston DM (april 2010). "BRCA1 and BRCA2: breast/ovarian cancer susceptibility gene products and participants in DNA double-strand break repair". Carcinogenesis. 31 (6): 961–7. doi:10.1093/carcin/bgq069. PMID 20400477.
16. ^ Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D (septembar 1994). "Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13". Science. 265 (5181): 2088–90. Bibcode:1994Sci...265.2088W. doi:10.1126/science.8091231. PMID 8091231.
17. ^ "BRCA2 breast cancer 2, early onset [Homo sapiens]". EntrezGene. National Center for Biotechnology Information, U.S. National Library of Medicine.
18. ^ "Breast cancer type 2 susceptibility protein - Homo sapiens (Human)". P51587. UniProt.
19. ^ Williams-Jones B (2002). Genetic testing for sale: Implications of commercial brca testing in Canada (Ph.D.). The University of British Columbia.
20. ^ OMIM Entry Search - brca3
21. ^ OMIM Entry - # 114480 - BREAST CANCER
22. ^ https://omim.org/search?index=entry&sort=score+desc%2C+prefix_sort+desc&start=1&limit=10&search=brca3