SPTBN2

SPTBN2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WJM, 1WYQ
Identifiers
Aliases	SPTBN2 , GTRAP41, SCA5, SCAR14, spectrin beta, non-erythrocytic 2
External IDs	OMIM: 604985; MGI: 1313261; HomoloGene: 48482; GeneCards: SPTBN2; OMA:SPTBN2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q13.2 Start 66,682,497 bp [1] End 66,744,670 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19 A|19 4.1 cM Start 4,761,195 bp [2] End 4,802,388 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum right frontal lobe skin of leg skin of abdomen ganglionic eminence prefrontal cortex right testis left testis cingulate gyrus anterior cingulate cortex Top expressed in perirhinal cortex CA3 field entorhinal cortex superior frontal gyrus primary visual cortex dentate gyrus of hippocampal formation granule cell Region I of hippocampus proper primary motor cortex cerebellar cortex prefrontal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding phospholipid binding structural constituent of cytoskeleton cadherin binding structural constituent of synapse Cellular component cell junction soma cell cortex apical plasma membrane cytoskeleton spectrin extracellular space cytoplasm cytosol parallel fiber to Purkinje cell synapse presynapse glutamatergic synapse postsynaptic spectrin-associated cytoskeleton Biological process antigen 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 organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 19: 4.76 – 4.8 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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:

• ACTR1A, ^{[8] [9]}
• Beta-actin, ^{[8] [9]} and
• UNC13B. ^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000173898 – Ensembl, May 2017
2. 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. 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. 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

• 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.