SPTBN2
Protein-coding gene in the species Homo sapiens
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| Aliases | SPTBN2, GTRAP41, SCA5, SCAR14, spectrin beta, non-erythrocytic 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604985; MGI: 1313261; HomoloGene: 48482; GeneCards: SPTBN2; OMA:SPTBN2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene.[5][6][7]
Clinical significance
Mutations in this gene is associated with Spinocerebellar ataxia type 5.
Interactions
SPTBN2 has been shown to interact with:
References
- ^ 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 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.
- ^ 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.
- ^ "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
- 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.
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PDB gallery
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1wjm: Solution structure of pleckstrin homology domain of human beta III spectrin. -
1wyq: Solution structure of the second CH domain of human spectrin beta chain, brain 2
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