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{{Infobox_gene}}
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'''SH3 domain and tetratricopeptide repeats-containing protein 2''' is a [[protein]] that in humans is encoded by the ''SH3TC2'' [[gene]].<ref name="pmid14574644">{{cite journal | vauthors = Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Muller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schoneborn S, Zuchner S, Michael Schroder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Buttner R, Nelis E, Zerres K | title = Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy | journal = Am J Hum Genet | volume = 73 | issue = 5 | pages = 1106–19 |date=Oct 2003 | pmid = 14574644 | pmc = 1180490 | doi = 10.1086/379525 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79628| accessdate = }}</ref> It is believed to be expressed in the [[Schwann cell]]s that wrap the [[myelin]] sheath around nerves.
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== Function ==
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This gene encodes a protein with two [[N-terminus|N-terminal]] Src homology 3 ([[SH3 domain|SH3]]) domains and 10 tetratricopeptide repeat ([[tetratricopeptide|TPR]]) motifs, and is a member of a small gene family. The gene product has been proposed to be an [[Signal transducing adaptor protein|adapter]] or docking molecule.<ref name="entrez"/>
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}}
The mouse version (orthologue) of SH3TC2 is believed to be expressed in Schwann cells. The tagged protein localizes to the plasma membrane and to the [[perinuclear space|perinuclear]] endocytic recycling compartment. Mice lacking Sh3tc2 have an abnormal organization of the [[node of Ranvier]] consistent with the idea that the protein might have a role in myelination or in [[axon]] – [[glial cell]] interactions.<ref name="pmid20220177">{{cite journal | vauthors = Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA | title = Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy | journal = N. Engl. J. Med. | volume = 362 | issue = 13 | pages = 1181–91 |date=April 2010 | pmid = 20220177 | doi = 10.1056/NEJMoa0908094 | url = | issn = }}</ref><ref name="pmid19805030">{{cite journal | vauthors = Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Weis J, Suter U, Senderek J, Chrast R | title = SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 106 | issue = 41 | pages = 17528–33 |date=October 2009 | pmid = 19805030 | doi = 10.1073/pnas.0905523106 | url = | issn = | pmc = 2765159 }}</ref>


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== Clinical significance ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = SH3 domain and tetratricopeptide repeats 2
| HGNCid = 29427
| Symbol = SH3TC2
| AltSymbols =; CMT4C; FLJ13605; KIAA1985
| OMIM = 608206
| ECnumber = 
| Homologene = 11596
| MGIid = 2444417
| GeneAtlas_image1 = PBB_GE_SH3TC2_219710_at_tn.png
| GeneAtlas_image2 = PBB_GE_SH3TC2_gnf1h08545_at_tn.png
| Function = {{GNF_GO|id=GO:0005488 |text = binding}}
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 79628
    | Hs_Ensembl = ENSG00000169247
    | Hs_RefseqProtein = NP_078853
    | Hs_RefseqmRNA = NM_024577
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 5
    | Hs_GenLoc_start = 148364377
    | Hs_GenLoc_end = 148422880
    | Hs_Uniprot = Q8TF17
    | Mm_EntrezGene = 225608
    | Mm_Ensembl = ENSMUSG00000045629
    | Mm_RefseqmRNA = NM_172628
    | Mm_RefseqProtein = NP_766216
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 18
    | Mm_GenLoc_start = 62078453
    | Mm_GenLoc_end = 62141084
    | Mm_Uniprot = Q3UPD8
  }}
}}
'''SH3 domain and tetratricopeptide repeats 2''', also known as '''SH3TC2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79628| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
Mutations in this gene result in autosomal recessive [[Charcot-Marie-Tooth]] disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons.<ref name="entrez">{{cite web | title = Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79628| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=LeGuern E, Guilbot A, Kessali M, ''et al.'' |title=Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. |journal=Hum. Mol. Genet. |volume=5 |issue= 10 |pages= 1685-8 |year= 1997 |pmid= 8894708 |doi=  }}
*{{cite journal   |vauthors=LeGuern E, Guilbot A, Kessali M, etal |title=Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. |journal=Hum. Mol. Genet. |volume=5 |issue= 10 |pages= 1685–8 |year= 1997 |pmid= 8894708 |doi=10.1093/hmg/5.10.1685 }}
*{{cite journal | author=Hiroi T, Hayashi-Kobayashi N, Nagumo S, ''et al.'' |title=Identification and characterization of the human serotonin-4 receptor gene promoter. |journal=Biochem. Biophys. Res. Commun. |volume=289 |issue= 2 |pages= 337-44 |year= 2002 |pmid= 11716477 |doi= 10.1006/bbrc.2001.5979 }}
*{{cite journal   |vauthors=Hiroi T, Hayashi-Kobayashi N, Nagumo S, etal |title=Identification and characterization of the human serotonin-4 receptor gene promoter. |journal=Biochem. Biophys. Res. Commun. |volume=289 |issue= 2 |pages= 337–44 |year= 2002 |pmid= 11716477 |doi= 10.1006/bbrc.2001.5979 }}
*{{cite journal  | author=Kikuno R, Nagase T, Waki M, Ohara O |title=HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project. |journal=Nucleic Acids Res. |volume=30 |issue= 1 |pages= 166-8 |year= 2002 |pmid= 11752282 |doi=  }}
*{{cite journal  | vauthors=Kikuno R, Nagase T, Waki M, Ohara O |title=HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project. |journal=Nucleic Acids Res. |volume=30 |issue= 1 |pages= 166–8 |year= 2002 |pmid= 11752282 |doi=10.1093/nar/30.1.166  | pmc=99081 }}
*{{cite journal  | author=Nagase T, Kikuno R, Ohara O |title=Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. |journal=DNA Res. |volume=8 |issue= 6 |pages= 319-27 |year= 2002 |pmid= 11853319 |doi=  }}
*{{cite journal  | vauthors=Nagase T, Kikuno R, Ohara O |title=Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. |journal=DNA Res. |volume=8 |issue= 6 |pages= 319–27 |year= 2002 |pmid= 11853319 |doi=10.1093/dnares/8.6.319 }}
*{{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   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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  | pmc=139241 }}
*{{cite journal | author=Senderek J, Bergmann C, Stendel C, ''et al.'' |title=Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. |journal=Am. J. Hum. Genet. |volume=73 |issue= 5 |pages= 1106-19 |year= 2004 |pmid= 14574644 |doi=  }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Wan D, Gong Y, Qin W, etal |title=Large-scale cDNA transfection screening for genes related to cancer development and progression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 44 |pages= 15724–9 |year= 2004 |pmid= 15498874 |doi= 10.1073/pnas.0404089101 | pmc=524842 }}
*{{cite journal | author=Wan D, Gong Y, Qin W, ''et al.'' |title=Large-scale cDNA transfection screening for genes related to cancer development and progression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 44 |pages= 15724-9 |year= 2004 |pmid= 15498874 |doi= 10.1073/pnas.0404089101 }}
*{{cite journal   |vauthors=Gooding R, Colomer J, King R, etal |title=A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. |journal=J. Med. Genet. |volume=42 |issue= 12 |pages= e69 |year= 2006 |pmid= 16326826 |doi= 10.1136/jmg.2005.034132 | pmc=1735969 }}
*{{cite journal | author=Gooding R, Colomer J, King R, ''et al.'' |title=A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. |journal=J. Med. Genet. |volume=42 |issue= 12 |pages= e69 |year= 2006 |pmid= 16326826 |doi= 10.1136/jmg.2005.034132 }}
*{{cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
*{{cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal   |vauthors=Claramunt R, Sevilla T, Lupo V, etal |title=The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. |journal=Clin. Genet. |volume=71 |issue= 4 |pages= 343–9 |year= 2007 |pmid= 17470135 |doi= 10.1111/j.1399-0004.2007.00774.x }}
*{{cite journal | author=Claramunt R, Sevilla T, Lupo V, ''et al.'' |title=The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. |journal=Clin. Genet. |volume=71 |issue= 4 |pages= 343-9 |year= 2007 |pmid= 17470135 |doi= 10.1111/j.1399-0004.2007.00774.x }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
* [https://www.ncbi.nlm.nih.gov/books/NBK1468/  GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4]
* [https://www.ncbi.nlm.nih.gov/books/NBK1340/  GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4C]
 
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| update_citations = yes
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Revision as of 06:17, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

SH3 domain and tetratricopeptide repeats-containing protein 2 is a protein that in humans is encoded by the SH3TC2 gene.[1][2] It is believed to be expressed in the Schwann cells that wrap the myelin sheath around nerves.

Function

This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule.[2]

The mouse version (orthologue) of SH3TC2 is believed to be expressed in Schwann cells. The tagged protein localizes to the plasma membrane and to the perinuclear endocytic recycling compartment. Mice lacking Sh3tc2 have an abnormal organization of the node of Ranvier consistent with the idea that the protein might have a role in myelination or in axon – glial cell interactions.[3][4]

Clinical significance

Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons.[2]

References

  1. ↑ Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Muller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schoneborn S, Zuchner S, Michael Schroder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Buttner R, Nelis E, Zerres K (Oct 2003). "Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy". Am J Hum Genet. 73 (5): 1106–19. doi:10.1086/379525. PMC 1180490. PMID 14574644.
  2. ↑ 2.0 2.1 2.2 "Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2".
  3. ↑ Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA (April 2010). "Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy". N. Engl. J. Med. 362 (13): 1181–91. doi:10.1056/NEJMoa0908094. PMID 20220177.
  4. ↑ Arnaud E, Zenker J, de Preux Charles AS, Stendel C, Roos A, Médard JJ, Tricaud N, Weis J, Suter U, Senderek J, Chrast R (October 2009). "SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system". Proc. Natl. Acad. Sci. U.S.A. 106 (41): 17528–33. doi:10.1073/pnas.0905523106. PMC 2765159. PMID 19805030.

Further reading

External links



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