MBNL2

MBNL2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2E5S, 2RPP
Identifikatori
Aliasi	MBNL2
Vanjski ID-jevi	OMIM: 607327 MGI: 2145597 HomoloGene: 76766 GeneCards: MBNL2
Lokacija gena (čovjek)
Hrom.	Hromosom 13 (čovjek)
Kraj	97,394,120 bp
Lokacija gena (miš)
Hrom.	Hromosom 14 (miš)
Kraj	120,669,109 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje iona metala; • vezivanje sa RNK;
Ćelijska komponenta	• citoplazma; • jedro; • nukleoplazma;
Biološki proces	• regulation of RNA splicing; • mRNA processing; • regulation of alternative mRNA splicing, via spliceosome; • Prerada RNK;
	Izvori:Amigo / QuickGO
Ortolozi
	10150
	105559
	ENSG00000139793
	ENSMUSG00000022139
	Q5VZF2
	Q8C181
	NM_001306070; NM_144778; NM_207304
NM_175341; NM_207515; NM_001360376; NM_001360377; NM_001360378;
	NM_001360379; NM_001360380
NP_001292999; NP_659002; NP_997187; NP_001369578; NP_001369579;
	NP_001369580; NP_001369581; NP_001369582; NP_001369583; NP_001369585; NP_001369589; NP_001369590; NP_001369592; NP_001369595; NP_001369596; NP_001369597; NP_001369598; NP_001369599; NP_001369600; NP_001369601; NP_001369602; NP_001369603; NP_001369604; NP_001369605; NP_001369606; NP_001369607; NP_001369608; NP_001369609; NP_001369610; NP_001369611; NP_001369612; NP_001369613; NP_001369614; NP_001369615; NP_001369616; NP_001369617; NP_001369618; NP_001369619; NP_001369620; NP_001369621; NP_001369622; NP_001369623; NP_001369624; NP_001369625; NP_001369626
NP_780550; NP_997398; NP_001347305; NP_001347306; NP_001347307;
	NP_001347308; NP_001347309
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Sljepomišićnoliki protein 2 ili protein 2 sličan slijepom mišiću je protein koji je kod ljudi kodiran genom MBNL2, sa hromosoma13, sekvenca 13q32.1.^[5]^[6]

Ovaj gen kodira protein cinkovog prsta tipa C3H, koji je sličan proteinu slijepog mišića Drosophila melanogaster. Kod Drosophila gen je potreban za diferencijaciju fotoreceptora. Opisano je nekoliko alternativno prerađenih varijanti transkripta, ali su samo neke sa određenom punom dužinom.^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 373 aminokiseline, a molekulska težina 40.518 Da.^[7]

10	20	30	40	50
MALNVAPVRD	TKWLTLEVCR	QFQRGTCSRS	DEECKFAHPP	KSCQVENGRV
IACFDSLKGR	CSRENCKYLH	PPTHLKTQLE	INGRNNLIQQ	KTAAAMLAQQ
MQFMFPGTPL	HPVPTFPVGP	AIGTNTAISF	APYLAPVTPG	VGLVPTEILP
TTPVIVPGSP	PVTVPGSTAT	QKLLRTDKLE	VCREFQRGNC	ARGETDCRFA
HPADSTMIDT	SDNTVTVCMD	YIKGRCMREK	CKYFHPPAHL	QAKIKAAQHQ
ANQAAVAAQA	AAAAATVMAF	PPGALHPLPK	RQALEKSNGT	SAVFNPSVLH
YQQALTSAQL	QQHAAFIPTG	SVLCMTPATS	IDNSEIISRN	GMECQESALR
ITKHCYCTYY	PVSSSIELPQ	TAC

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139793 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022139 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD (Apr 2002). "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells". Hum Mol Genet. 11 (7): 805–14. doi:10.1093/hmg/11.7.805. PMID 11929853.
^ ^a ^b "Entrez Gene: MBNL2 muscleblind-like 2 (Drosophila)".
^ "UniProt, Q5VZF2". Pristupljeno 11. 9. 2017.

Dopunska literatura

Adereth Y, Dammai V, Kose N, et al. (2006). "RNA-dependent integrin α3 protein localization regulated by the Muscleblind-like protein MLP1". Nat. Cell Biol. 7 (12): 1240–7. doi:10.1038/ncb1335. PMC 2365307. PMID 16273094.
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:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Ho TH, Charlet-B N, Poulos MG, et al. (2005). "Muscleblind proteins regulate alternative splicing". EMBO J. 23 (15): 3103–12. doi:10.1038/sj.emboj.7600300. PMC 514918. PMID 15257297.
Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMC 2665288. PMID 15057823.
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:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Christian SL, McDonough J, Liu Cy CY, et al. (2002). "An evaluation of the assembly of an approximately 15-Mb region on human chromosome 13q32-q33 linked to bipolar disorder and schizophrenia". Genomics. 79 (5): 635–56. doi:10.1006/geno.2002.6765. PMID 11991713.

Vanjski linkovi

MBNL2 lokacija ljudskog genoma UCSC Genome Browser.

MBNL2 human gene details in the UCSC Genome Browser.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139793 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022139 - 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.

[pmid11929853-5] Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, Brook JD (Apr 2002). "Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells". Hum Mol Genet. 11 (7): 805–14. doi:10.1093/hmg/11.7.805. PMID 11929853.

[entrez-6] "Entrez Gene: MBNL2 muscleblind-like 2 (Drosophila)".

[UniProt-7] "UniProt, Q5VZF2". Pristupljeno 11. 9. 2017.

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