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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]

It is associated with Spinocerebellar ataxia type 5.

Interactions[edit]

SPTBN2 has been shown to interact with UNC13B,[4] ACTR1A[5][6] and Beta-actin.[5][6]

References[edit]

  1. ^ 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. doi:10.1073/pnas.95.24.14158. PMC 24343. PMID 9826670. 
  2. ^ 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. 
  3. ^ "Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2". 
  4. ^ 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. (UNITED STATES) 248 (3): 846–51. doi:10.1006/bbrc.1998.9067. ISSN 0006-291X. PMID 9704016. 
  5. ^ 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 (England) 411 (6835): 321–5. doi:10.1038/35077108. ISSN 0028-0836. PMID 11357136. 
  6. ^ a b Holleran, E A; Ligon L A; Tokito M; Stankewich M C; Morrow J S; Holzbaur E L (September 2001). "beta III spectrin binds to the Arp1 subunit of dynactin". J. Biol. Chem. (United States) 276 (39): 36598–605. doi:10.1074/jbc.M104838200. ISSN 0021-9258. PMID 11461920. 

Further reading[edit]



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