MBNL2

Protein-coding gene in the species Homo sapiens
MBNL2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2E5S, 2RPP

Identifiers
AliasesMBNL2, MBLL, MBLL39, PRO2032, muscleblind like splicing regulator 2
External IDsOMIM: 607327; MGI: 2145597; HomoloGene: 76766; GeneCards: MBNL2; OMA:MBNL2 - orthologs
Gene location (Human)
Chromosome 13 (human)
Chr.Chromosome 13 (human)[1]
Chromosome 13 (human)
Genomic location for MBNL2
Genomic location for MBNL2
Band13q32.1Start97,221,434 bp[1]
End97,394,120 bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for MBNL2
Genomic location for MBNL2
Band14|14 E4Start120,513,081 bp[2]
End120,669,109 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • endothelial cell

  • external globus pallidus

  • right ventricle

  • inferior ganglion of vagus nerve

  • lateral nuclear group of thalamus

  • subthalamic nucleus

  • pars reticulata

  • pons

  • Pars compacta

  • optic nerve
Top expressed in
  • hand

  • interventricular septum

  • otolith organ

  • utricle

  • mammillary body

  • lateral septal nucleus

  • ventromedial nucleus

  • superior cervical ganglion

  • olfactory tubercle

  • foot
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • metal ion binding
  • RNA binding
Cellular component
  • cytoplasm
  • nucleus
  • nucleoplasm
Biological process
  • regulation of RNA splicing
  • mRNA processing
  • regulation of alternative mRNA splicing, via spliceosome
  • RNA splicing
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10150

105559

Ensembl

ENSG00000139793

ENSMUSG00000022139

UniProt

Q5VZF2

Q8C181

RefSeq (mRNA)

NM_001306070
NM_144778
NM_207304

NM_175341
NM_207515
NM_001360376
NM_001360377
NM_001360378

NM_001360379
NM_001360380

RefSeq (protein)
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

Location (UCSC)Chr 13: 97.22 – 97.39 MbChr 14: 120.51 – 120.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Muscleblind-like protein 2 is a protein that in humans is encoded by the MBNL2 gene.[5][6]

This gene encodes a C3H-type zinc finger protein, which is similar to the Drosophila melanogaster muscleblind B protein. Drosophila muscleblind is a gene required for photoreceptor differentiation. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139793 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022139 – Ensembl, May 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. ^ 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.
  6. ^ a b "Entrez Gene: MBNL2 muscleblind-like 2 (Drosophila)".

Further reading

  • 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. Bibcode:2004Natur.428..522D. 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. Bibcode:2002PNAS...9916899M. 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.

External links


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