SH3TC2

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SH3 domain and tetratricopeptide repeats 2
Identifiers
Symbol(s) SH3TC2; CMT4C; FLJ13605; KIAA1985
External IDs OMIM: 608206 MGI: 2444417 HomoloGene: 11596
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 79628 225608
Ensembl ENSG00000169247 ENSMUSG00000045629
Uniprot Q8TF17 Q3UPD8
Refseq NM_024577 (mRNA)
NP_078853 (protein)		 NM_172628 (mRNA)
NP_766216 (protein)
Location Chr 5: 148.36 - 148.42 Mb Chr 18: 62.08 - 62.14 Mb
Pubmed search [1] [2]

SH3 domain and tetratricopeptide repeats 2, also known as SH3TC2, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2.

[edit] Further reading

  • LeGuern E, Guilbot A, Kessali M, et al. (1997). "Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.". Hum. Mol. Genet. 5 (10): 1685-8. PMID 8894708. 
  • Hiroi T, Hayashi-Kobayashi N, Nagumo S, et al. (2002). "Identification and characterization of the human serotonin-4 receptor gene promoter.". Biochem. Biophys. Res. Commun. 289 (2): 337-44. doi:10.1006/bbrc.2001.5979. PMID 11716477. 
  • Kikuno R, Nagase T, Waki M, Ohara O (2002). "HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project.". Nucleic Acids Res. 30 (1): 166-8. PMID 11752282. 
  • Nagase T, Kikuno R, Ohara O (2002). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.". DNA Res. 8 (6): 319-27. PMID 11853319. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Senderek J, Bergmann C, Stendel C, et al. (2004). "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. PMID 14574644. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression.". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724-9. doi:10.1073/pnas.0404089101. PMID 15498874. 
  • Gooding R, Colomer J, King R, et al. (2006). "A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.". J. Med. Genet. 42 (12): e69. doi:10.1136/jmg.2005.034132. PMID 16326826. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55-65. doi:10.1101/gr.4039406. PMID 16344560. 
  • Claramunt R, Sevilla T, Lupo V, et al. (2007). "The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.". Clin. Genet. 71 (4): 343-9. doi:10.1111/j.1399-0004.2007.00774.x. PMID 17470135. 
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