SPTBN2: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Spectrin beta chain, brain 2''' is a [[protein]] that in humans is encoded by the ''SPTBN2'' [[gene]].<ref name="pmid9826670">{{cite journal | vauthors = Stankewich MC, Tse WT, Peters LL, Ch'ng Y, John KM, Stabach PR, Devarajan P, Morrow JS, Lux SE | title = A widely expressed βIII spectrin associated with Golgi and cytoplasmic vesicles | journal = Proc Natl Acad Sci U S A | volume = 95 | issue = 24 | pages = 14158–63 | date = Dec 1998 | pmid = 9826670 | pmc = 24343 | doi = 10.1073/pnas.95.24.14158 }}</ref><ref name="pmid16429157">{{cite journal | vauthors = 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 | title = Spectrin mutations cause spinocerebellar ataxia type 5 | journal = Nat Genet | volume = 38 | issue = 2 | pages = 184–90 | date = January 2006 | pmid = 16429157 | pmc = | doi = 10.1038/ng1728 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6712| accessdate = }}</ref>
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| update_protein_box = yes
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| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==Clinical significance==
{{GNF_Protein_box
| image = PBB_Protein_SPTBN2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1wjm.
| PDB = {{PDB2|1wjm}}, {{PDB2|1wyq}}
| Name = Spectrin, beta, non-erythrocytic 2
| HGNCid = 11276
| Symbol = SPTBN2
| AltSymbols =; SCA5
| OMIM = 604985
| ECnumber = 
| Homologene = 48482
| MGIid = 1313261
| GeneAtlas_image1 = PBB_GE_SPTBN2_205155_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003779 |text = actin binding}} {{GNF_GO|id=GO:0005200 |text = structural constituent of cytoskeleton}}
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0008091 |text = spectrin}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0008219 |text = cell death}} {{GNF_GO|id=GO:0016192 |text = vesicle-mediated transport}} {{GNF_GO|id=GO:0051016 |text = barbed-end actin filament capping}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6712
    | Hs_Ensembl = ENSG00000173898
    | Hs_RefseqProtein = NP_008877
    | Hs_RefseqmRNA = NM_006946
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 66209299
    | Hs_GenLoc_end = 66245446
    | Hs_Uniprot = O15020
    | Mm_EntrezGene = 20743
    | Mm_Ensembl = ENSMUSG00000067889
    | Mm_RefseqmRNA = NM_021287
    | Mm_RefseqProtein = NP_067262
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 4711223
    | Mm_GenLoc_end = 4752352
    | Mm_Uniprot = 
  }}
}}
'''Spectrin, beta, non-erythrocytic 2''', also known as '''SPTBN2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6712| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
Mutations in this gene is associated with [[Spinocerebellar ataxia]] type 5.
{{PBB_Summary
| section_title =
| summary_text =
}}


==References==
== Interactions ==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=De Matteis MA, Morrow JS |title=Spectrin tethers and mesh in the biosynthetic pathway. |journal=J. Cell. Sci. |volume=113 ( Pt 13) |issue=  |pages= 2331-43 |year= 2000 |pmid= 10852813 |doi=  }}
*{{cite journal  | author=Ranum LP, Schut LJ, Lundgren JK, ''et al.'' |title=Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. |journal=Nat. Genet. |volume=8 |issue= 3 |pages= 280-4 |year= 1995 |pmid= 7874171 |doi= 10.1038/ng1194-280 }}
*{{cite journal  | author=Nagase T, Ishikawa K, Nakajima D, ''et al.'' |title=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. |journal=DNA Res. |volume=4 |issue= 2 |pages= 141-50 |year= 1997 |pmid= 9205841 |doi=  }}
*{{cite journal  | author=Ohara O, Ohara R, Yamakawa H, ''et al.'' |title=Characterization of a new beta-spectrin gene which is predominantly expressed in brain. |journal=Brain Res. Mol. Brain Res. |volume=57 |issue= 2 |pages= 181-92 |year= 1998 |pmid= 9675416 |doi=  }}
*{{cite journal  | author=Sakaguchi G, Orita S, Naito A, ''et al.'' |title=A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13. |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue= 3 |pages= 846-51 |year= 1998 |pmid= 9704016 |doi= 10.1006/bbrc.1998.9067 }}
*{{cite journal  | author=Stankewich MC, Tse WT, Peters LL, ''et al.'' |title=A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 24 |pages= 14158-63 |year= 1998 |pmid= 9826670 |doi=  }}
*{{cite journal  | author=Holleran EA, Ligon LA, Tokito M, ''et al.'' |title=beta III spectrin binds to the Arp1 subunit of dynactin. |journal=J. Biol. Chem. |volume=276 |issue= 39 |pages= 36598-605 |year= 2001 |pmid= 11461920 |doi= 10.1074/jbc.M104838200 }}
*{{cite journal  | author=Shoeman RL, Hartig R, Hauses C, Traub P |title=Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease. |journal=Cell Biol. Int. |volume=26 |issue= 6 |pages= 529-39 |year= 2003 |pmid= 12119179 |doi=  }}
*{{cite journal  | author=Nakayama M, Kikuno R, Ohara O |title=Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. |journal=Genome Res. |volume=12 |issue= 11 |pages= 1773-84 |year= 2003 |pmid= 12421765 |doi= 10.1101/gr.406902 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Bignone PA, Baines AJ |title=Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site. |journal=Biochem. J. |volume=374 |issue= Pt 3 |pages= 613-24 |year= 2003 |pmid= 12820899 |doi= 10.1042/BJ20030507 }}
*{{cite journal  | author=Ikeda Y, Dick KA, Weatherspoon MR, ''et al.'' |title=Spectrin mutations cause spinocerebellar ataxia type 5. |journal=Nat. Genet. |volume=38 |issue= 2 |pages= 184-90 |year= 2006 |pmid= 16429157 |doi= 10.1038/ng1728 }}
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
}}
{{refend}}


{{protein-stub}}
SPTBN2 has been shown to [[Protein-protein interaction|interact]] with:
{{WikiDoc Sources}}
* [[ACTR1A]],<ref name = pmid11357136>{{cite journal | vauthors = Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A, Niehrs C | title = LDL-receptor-related protein 6 is a receptor for Dickkopf proteins | journal = Nature | volume = 411 | issue = 6835 | pages = 321–5 | date = May 2001 | pmid = 11357136 | doi = 10.1038/35077108 }}</ref><ref name = pmid11461920>{{cite journal | vauthors = Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL | title = beta III spectrin binds to the Arp1 subunit of dynactin | journal = J. Biol. Chem. | volume = 276 | issue = 39 | pages = 36598–605 | date = September 2001 | pmid = 11461920 | doi = 10.1074/jbc.M104838200 }}</ref>
* [[Beta-actin]],<ref name = pmid11357136/><ref name = pmid11461920/> and
* [[UNC13B]].<ref name = pmid9704016>{{cite journal | vauthors = Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y | title = A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13 | journal = Biochem. Biophys. Res. Commun. | volume = 248 | issue = 3 | pages = 846–51 | date = July 1998 | pmid = 9704016 | doi = 10.1006/bbrc.1998.9067 }}</ref>
 
== References ==
{{Reflist}}
 
== Further reading ==
{{Refbegin | 2}}
* {{cite journal | vauthors = De Matteis MA, Morrow JS | title = Spectrin tethers and mesh in the biosynthetic pathway | journal = J. Cell Sci. | volume = 113 | issue = 13 | pages = 2331–43 | year = 2000 | pmid = 10852813 | doi =  }}
* {{cite journal | vauthors = Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM | title = Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11 | journal = Nat. Genet. | volume = 8 | issue = 3 | pages = 280–4 | year = 1995 | pmid = 7874171 | doi = 10.1038/ng1194-280 }}
* {{cite journal | vauthors = Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Res. | volume = 4 | issue = 2 | pages = 141–50 | year = 1997 | pmid = 9205841 | doi = 10.1093/dnares/4.2.141 }}
* {{cite journal | vauthors = Ohara O, Ohara R, Yamakawa H, Nakajima D, Nakayama M | title = Characterization of a new beta-spectrin gene which is predominantly expressed in brain | journal = Brain Res. Mol. Brain Res. | volume = 57 | issue = 2 | pages = 181–92 | year = 1998 | pmid = 9675416 | doi = 10.1016/S0169-328X(98)00068-0 }}
* {{cite journal | vauthors = Sakaguchi G, Orita S, Naito A, Maeda M, Igarashi H, Sasaki T, Takai Y | title = A novel brain-specific isoform of beta spectrin: isolation and its interaction with Munc13 | journal = Biochem. Biophys. Res. Commun. | volume = 248 | issue = 3 | pages = 846–51 | year = 1998 | pmid = 9704016 | doi = 10.1006/bbrc.1998.9067 }}
* {{cite journal | vauthors = Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL | title = beta III spectrin binds to the Arp1 subunit of dynactin | journal = J. Biol. Chem. | volume = 276 | issue = 39 | pages = 36598–605 | year = 2001 | pmid = 11461920 | doi = 10.1074/jbc.M104838200 }}
* {{cite journal | vauthors = Shoeman RL, Hartig R, Hauses C, Traub P | title = Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease | journal = Cell Biol. Int. | volume = 26 | issue = 6 | pages = 529–39 | year = 2003 | pmid = 12119179 | doi = 10.1006/cbir.2002.0895 }}
* {{cite journal | vauthors = Nakayama M, Kikuno R, Ohara O | title = Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs | journal = Genome Res. | volume = 12 | issue = 11 | pages = 1773–84 | year = 2003 | pmid = 12421765 | pmc = 187542 | doi = 10.1101/gr.406902 }}
* {{cite journal | vauthors = Bignone PA, Baines AJ | title = Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site | journal = Biochem. J. | volume = 374 | issue = Pt 3 | pages = 613–24 | year = 2003 | pmid = 12820899 | pmc = 1223645 | doi = 10.1042/BJ20030507 }}
* {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–48 | year = 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 }}
{{Refend}}
 
{{PDB Gallery|geneid=6712}}
 
{{Cytoskeletal Proteins}}
 
 
{{Gene-11-stub}}

Latest revision as of 20:53, 8 November 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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:

References

  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, 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.
  3. ↑ "Entrez Gene: SPTBN2 spectrin, beta, non-erythrocytic 2".
  4. ↑ 4.0 4.1 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. doi:10.1038/35077108. PMID 11357136.
  5. ↑ 5.0 5.1 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, 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


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