SPTBN2

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Spectrin, beta, non-erythrocytic 2
Protein SPTBN2 PDB 1wjm.png
PDB rendering based on 1wjm.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SPTBN2 ; GTRAP41; SCA5; SCAR14
External IDs OMIM604985 MGI1313261 HomoloGene48482 GeneCards: SPTBN2 Gene
RNA expression pattern
PBB GE SPTBN2 205155 s at tn.png
More reference expression data
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:
66.45 – 66.5 Mb
Chr 19:
4.71 – 4.75 Mb
PubMed search [1] [2]

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

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. ^ Stankewich MC, Tse WT, Peters LL, Ch'ng Y, John KM, Stabach PR et al. (Dec 1998). "A widely expressed βIII spectrin associated with Golgi and cytoplasmic vesicles". Proc Natl Acad Sci U S A 95 (24): 14158–63. doi:10.1073/pnas.95.24.14158. PMC 24343. PMID 9826670. 
  2. ^ Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC et al. (January 2006). "Spectrin mutations cause spinocerebellar ataxia type 5". Nat Genet 38 (2): 184–90. doi:10.1038/ng1728. PMID 16429157. 
  3. ^ "Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2". 
  4. ^ a b Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A et al. (May 2001). "LDL-receptor-related protein 6 is a receptor for Dickkopf proteins". Nature 411 (6835): 321–5. doi:10.1038/35077108. PMID 11357136. 
  5. ^ 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. 
  6. ^ Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T et al. (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]