SPTBN2 explained

Spectrin beta chain, brain 2 is a protein that in humans is encoded by the SPTBN2 gene.^{[1] [2] [3]}

Clinical significance

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

Interactions

SPTBN2 has been shown to interact with:

• ACTR1A,^{[4] [5]}
• Beta-actin,^{[4] [5]} and
• UNC13B.^[6]

Further reading

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

Notes and References

1. Stankewich MC, Tse WT, Peters LL, Ch'ng Y, John KM, Stabach PR, Devarajan P, Morrow JS, Lux SE . A widely expressed βIII spectrin associated with Golgi and cytoplasmic vesicles . Proc Natl Acad Sci U S A . 95 . 24 . 14158–63 . Dec 1998 . 9826670 . 24343 . 10.1073/pnas.95.24.14158 . 1998PNAS...9514158S . free .
2. 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 . Spectrin mutations cause spinocerebellar ataxia type 5 . Nat Genet . 38 . 2 . 184–90 . January 2006 . 16429157 . 10.1038/ng1728 . 35280646 .
3. Web site: Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2.
4. Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A, Niehrs C . LDL-receptor-related protein 6 is a receptor for Dickkopf proteins . Nature . 411 . 6835 . 321–5 . May 2001 . 11357136 . 10.1038/35077108 . 2001Natur.411..321M . 4323027 .
5. Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL . beta III spectrin binds to the Arp1 subunit of dynactin . J. Biol. Chem. . 276 . 39 . 36598–605 . September 2001 . 11461920 . 10.1074/jbc.M104838200 . free .
6. Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y . A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13 . Biochem. Biophys. Res. Commun. . 248 . 3 . 846–51 . July 1998 . 9704016 . 10.1006/bbrc.1998.9067 .