SH3TC2

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SH3TC2
Identifiers
Aliases SH3TC2, CMT4C, MNMN, SH3 domain and tetratricopeptide repeats 2
External IDs MGI: 2444417 HomoloGene: 11596 GeneCards: SH3TC2
Gene location (Human)
Chromosome 5 (human)
Chr. Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for SH3TC2
Genomic location for SH3TC2
Band 5q32 Start 148,923,639 bp[1]
End 149,063,163 bp[1]
RNA expression pattern
PBB GE SH3TC2 219710 at fs.png

PBB GE SH3TC2 gnf1h08545 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024577

NM_172628

RefSeq (protein)

NP_078853

NP_766216

Location (UCSC) Chr 5: 148.92 – 149.06 Mb Chr 5: 61.95 – 62.02 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SH3 domain and tetratricopeptide repeats-containing protein 2 is a protein that in humans is encoded by the SH3TC2 gene.[5][6] It is believed to be 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.[6]

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 axonglial cell interactions.[7][8]

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.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169247 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045629 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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 1180490Freely accessible. PMID 14574644. 
  6. ^ a b c "Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2". 
  7. ^ 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. 
  8. ^ 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 2765159Freely accessible. PMID 19805030. 

Further reading[edit]

External links[edit]