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Wikipedia

SPTBN2

December 01, 2023

Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene.[5][6][7]

SPTBN2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSPTBN2, GTRAP41, SCA5, SCAR14, spectrin beta, non-erythrocytic 2
External IDsOMIM: 604985 MGI: 1313261 HomoloGene: 48482 GeneCards: SPTBN2
Orthologs
SpeciesHumanMouse
Entrez

6712

20743

Ensembl

ENSG00000173898

ENSMUSG00000067889

UniProt

O15020

Q68FG2

RefSeq (mRNA)

NM_006946

NM_021287

RefSeq (protein)

NP_008877

NP_067262

Location (UCSC)Chr 11: 66.68 – 66.74 MbChr 19: 4.76 – 4.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance edit

Mutations in this gene is associated with Spinocerebellar ataxia type 5.

Interactions edit

SPTBN2 has been shown to interact with:

References edit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000173898 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067889 - 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. ^ Stankewich MC, Tse WT, Peters LL, Ch'ng Y, John KM, Stabach PR, Devarajan P, Morrow JS, Lux SE (Dec 1998). "A widely expressed βIII spectrin associated with Golgi and cytoplasmic vesicles". Proc Natl Acad Sci U S A. 95 (24): 14158–63. Bibcode:1998PNAS...9514158S. doi:10.1073/pnas.95.24.14158. PMC 24343. PMID 9826670.
  6. ^ Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP (January 2006). "Spectrin mutations cause spinocerebellar ataxia type 5". Nat Genet. 38 (2): 184–90. doi:10.1038/ng1728. PMID 16429157. S2CID 35280646.
  7. ^ "Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2".
  8. ^ a b Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A, Niehrs C (May 2001). "LDL-receptor-related protein 6 is a receptor for Dickkopf proteins". Nature. 411 (6835): 321–5. Bibcode:2001Natur.411..321M. doi:10.1038/35077108. PMID 11357136. S2CID 4323027.
  9. ^ a b Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL (September 2001). "beta III spectrin binds to the Arp1 subunit of dynactin". J. Biol. Chem. 276 (39): 36598–605. doi:10.1074/jbc.M104838200. PMID 11461920.
  10. ^ Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y (July 1998). "A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13". Biochem. Biophys. Res. Commun. 248 (3): 846–51. doi:10.1006/bbrc.1998.9067. PMID 9704016.

Further reading edit

  • De Matteis MA, Morrow JS (2000). "Spectrin tethers and mesh in the biosynthetic pathway". J. Cell Sci. 113 (13): 2331–43. doi:10.1242/jcs.113.13.2331. PMID 10852813.
  • Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM (1995). "Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11". Nat. Genet. 8 (3): 280–4. doi:10.1038/ng1194-280. PMID 7874171. S2CID 3133154.
  • Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
  • Ohara O, Ohara R, Yamakawa H, Nakajima D, Nakayama M (1998). "Characterization of a new beta-spectrin gene which is predominantly expressed in brain". Brain Res. Mol. Brain Res. 57 (2): 181–92. doi:10.1016/S0169-328X(98)00068-0. PMID 9675416.
  • Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y (1998). "A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13". Biochem. Biophys. Res. Commun. 248 (3): 846–51. doi:10.1006/bbrc.1998.9067. PMID 9704016.
  • Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL (2001). "beta III spectrin binds to the Arp1 subunit of dynactin". J. Biol. Chem. 276 (39): 36598–605. doi:10.1074/jbc.M104838200. PMID 11461920.
  • Shoeman RL, Hartig R, Hauses C, Traub P (2003). "Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease". Cell Biol. Int. 26 (6): 529–39. doi:10.1006/cbir.2002.0895. PMID 12119179. S2CID 39778155.
  • Nakayama M, Kikuno R, Ohara O (2003). "Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
  • Bignone PA, Baines AJ (2003). "Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site". Biochem. J. 374 (Pt 3): 613–24. doi:10.1042/BJ20030507. PMC 1223645. PMID 12820899.
  • Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.


 

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

December 01, 2023
sptbn2, spectrin, beta, chain, brain, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1wjm, 1wyqidentifiersaliases, gtrap41, sca5, scar14, spectrin, beta, erythrocytic, 2external, idsomim, 604985, 1313261, h. Spectrin beta chain brain 2 is a protein that in humans is encoded by the SPTBN2 gene 5 6 7 SPTBN2Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1WJM 1WYQIdentifiersAliasesSPTBN2 GTRAP41 SCA5 SCAR14 spectrin beta non erythrocytic 2External IDsOMIM 604985 MGI 1313261 HomoloGene 48482 GeneCards SPTBN2Gene location Human Chr Chromosome 11 human 1 Band11q13 2Start66 682 497 bp 1 End66 744 670 bp 1 Gene location Mouse Chr Chromosome 19 mouse 2 Band19 A 19 4 1 cMStart4 761 195 bp 2 End4 802 388 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inskin of abdomenganglionic eminenceprefrontal cortexcingulate gyrusnucleus accumbensamygdalaBrodmann area 9gumscavity of mouthvulvaTop expressed inentorhinal cortexsuperior frontal gyrusRegion I of hippocampus properprimary motor cortexcerebellar cortexprefrontal cortexhippocampus propersubiculumcerebellar vermislipMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionactin binding phospholipid binding structural constituent of cytoskeleton cadherin binding structural constituent of synapseCellular componentcell junction neuronal cell body cell cortex apical plasma membrane cytoskeleton spectrin extracellular space cytoplasm cytosol parallel fiber to Purkinje cell synapse presynapse glutamatergic synapse postsynaptic spectrin associated cytoskeletonBiological processantigen processing and presentation of exogenous peptide antigen via MHC class II multicellular organism growth MAPK cascade axon guidance cerebellar Purkinje cell layer morphogenesis endoplasmic reticulum to Golgi vesicle mediated transport adult behavior actin filament capping synapse assembly vesicle mediated transport cytoskeleton organization regulation of molecular function postsynapse organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez671220743EnsemblENSG00000173898ENSMUSG00000067889UniProtO15020Q68FG2RefSeq mRNA NM 006946NM 021287RefSeq protein NP 008877NP 067262Location UCSC Chr 11 66 68 66 74 MbChr 19 4 76 4 8 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Clinical significance 2 Interactions 3 References 4 Further readingClinical significance editMutations in this gene is associated with Spinocerebellar ataxia type 5 Interactions editSPTBN2 has been shown to interact with ACTR1A 8 9 Beta actin 8 9 and UNC13B 10 References edit a b c GRCh38 Ensembl release 89 ENSG00000173898 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000067889 Ensembl May 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 Stankewich MC Tse WT Peters LL Ch ng Y John KM Stabach PR Devarajan P Morrow JS Lux SE Dec 1998 A widely expressed bIII spectrin associated with Golgi and cytoplasmic vesicles Proc Natl Acad Sci U S A 95 24 14158 63 Bibcode 1998PNAS 9514158S doi 10 1073 pnas 95 24 14158 PMC 24343 PMID 9826670 Ikeda Y Dick KA Weatherspoon MR Gincel D Armbrust KR Dalton JC Stevanin G Durr A Zuhlke C Burk K Clark HB Brice A Rothstein JD Schut LJ Day JW Ranum LP January 2006 Spectrin mutations cause spinocerebellar ataxia type 5 Nat Genet 38 2 184 90 doi 10 1038 ng1728 PMID 16429157 S2CID 35280646 Entrez Gene SPTBN2 spectrin beta non erythrocytic 2 a b Mao B Wu W Li Y Hoppe D Stannek P Glinka A Niehrs C May 2001 LDL receptor related protein 6 is a receptor for Dickkopf proteins Nature 411 6835 321 5 Bibcode 2001Natur 411 321M doi 10 1038 35077108 PMID 11357136 S2CID 4323027 a b Holleran EA Ligon LA Tokito M Stankewich MC Morrow JS Holzbaur EL September 2001 beta III spectrin binds to the Arp1 subunit of dynactin J Biol Chem 276 39 36598 605 doi 10 1074 jbc M104838200 PMID 11461920 Sakaguchi G Orita S Naito A Maeda M Igarashi H Sasaki T Takai Y July 1998 A novel brain specific isoform of beta spectrin isolation and its interaction with Munc13 Biochem Biophys Res Commun 248 3 846 51 doi 10 1006 bbrc 1998 9067 PMID 9704016 Further reading editDe Matteis MA Morrow JS 2000 Spectrin tethers and mesh in the biosynthetic pathway J Cell Sci 113 13 2331 43 doi 10 1242 jcs 113 13 2331 PMID 10852813 Ranum LP Schut LJ Lundgren JK Orr HT Livingston DM 1995 Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11 Nat Genet 8 3 280 4 doi 10 1038 ng1194 280 PMID 7874171 S2CID 3133154 Nagase T Ishikawa K Nakajima D Ohira M Seki N Miyajima N Tanaka A Kotani H Nomura N Ohara O 1997 Prediction of the coding sequences of unidentified human genes VII The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro DNA Res 4 2 141 50 doi 10 1093 dnares 4 2 141 PMID 9205841 Ohara O Ohara R Yamakawa H Nakajima D Nakayama M 1998 Characterization of a new beta spectrin gene which is predominantly expressed in brain Brain Res Mol Brain Res 57 2 181 92 doi 10 1016 S0169 328X 98 00068 0 PMID 9675416 Sakaguchi G Orita S Naito A Maeda M Igarashi H Sasaki T Takai Y 1998 A novel brain specific isoform of beta spectrin isolation and its interaction with Munc13 Biochem Biophys Res Commun 248 3 846 51 doi 10 1006 bbrc 1998 9067 PMID 9704016 Holleran EA Ligon LA Tokito M Stankewich MC Morrow JS Holzbaur EL 2001 beta III spectrin binds to the Arp1 subunit of dynactin J Biol Chem 276 39 36598 605 doi 10 1074 jbc M104838200 PMID 11461920 Shoeman RL Hartig R Hauses C Traub P 2003 Organization of focal adhesion plaques is disrupted by action of the HIV 1 protease Cell Biol Int 26 6 529 39 doi 10 1006 cbir 2002 0895 PMID 12119179 S2CID 39778155 Nakayama M Kikuno R Ohara O 2003 Protein Protein Interactions Between Large Proteins Two Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs Genome Res 12 11 1773 84 doi 10 1101 gr 406902 PMC 187542 PMID 12421765 Bignone PA Baines AJ 2003 Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site Biochem J 374 Pt 3 613 24 doi 10 1042 BJ20030507 PMC 1223645 PMID 12820899 Olsen JV Blagoev B Gnad F Macek B Kumar C Mortensen P Mann M 2006 Global in vivo and site specific phosphorylation dynamics in signaling networks Cell 127 3 635 48 doi 10 1016 j cell 2006 09 026 PMID 17081983 S2CID 7827573 nbsp This article on a gene on human chromosome 11 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SPTBN2 amp oldid 1142720865, wikipedia, wiki, book, books, library,

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