SPTBN2

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SPTBN2
Protein SPTBN2 PDB 1wjm.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SPTBN2, GTRAP41, SCA5, SCAR14, spectrin beta, non-erythrocytic 2
External IDs MGI: 1313261 HomoloGene: 48482 GeneCards: SPTBN2
Gene location (Human)
Chromosome 11 (human)
Chr. Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for SPTBN2
Genomic location for SPTBN2
Band 11q13.2 Start 66,685,248 bp[1]
End 66,729,226 bp[1]
RNA expression pattern
PBB GE SPTBN2 205155 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006946

NM_021287

RefSeq (protein)

NP_008877

NP_067262

Location (UCSC) Chr 11: 66.69 – 66.73 Mb Chr 11: 4.71 – 4.75 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[edit]

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

Interactions[edit]

SPTBN2 has been shown to interact with:

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000173898 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000067889 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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. PMC 24343Freely accessible. PMID 9826670. doi:10.1073/pnas.95.24.14158. 
  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. PMID 16429157. doi:10.1038/ng1728. 
  7. ^ "Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2". 
  8. ^ 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. PMID 11357136. doi:10.1038/35077108. 
  9. ^ 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. PMID 11461920. doi:10.1074/jbc.M104838200. 
  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. PMID 9704016. doi:10.1006/bbrc.1998.9067. 

Further reading[edit]