SH3TC2

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SH3 domain and tetratricopeptide repeats 2
Identifiers
Symbols SH3TC2 ; CMT4C; MNMN
External IDs OMIM608206 MGI2444417 HomoloGene11596 GeneCards: SH3TC2 Gene
RNA expression pattern
PBB GE SH3TC2 219710 at tn.png
PBB GE SH3TC2 gnf1h08545 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 79628 225608
Ensembl ENSG00000169247 ENSMUSG00000045629
UniProt Q8TF17 Q80VA5
RefSeq (mRNA) NM_024577 NM_172628
RefSeq (protein) NP_078853 NP_766216
Location (UCSC) Chr 5:
148.92 – 149.06 Mb
Chr 18:
61.95 – 62.02 Mb
PubMed search [1] [2]

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

Function[edit]

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 expressed in Schwann cells, and localizes to the plasma membrane and to the perinuclear endocytic recycling compartment, consistent with a role in myelination or in axonglial cell interactions. Mice lacking Sh3tc2 have an abnormal organization of the node of Ranvier.[3][4]

Clinical significance[edit]

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[edit]

  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. ^ a b c "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[edit]

External links[edit]