SH3TC2: Difference between revisions
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Revision as of 14:36, 6 September 2012
SH3 domain and tetratricopeptide repeats 2 | |||||||
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Identifiers | |||||||
Symbols | SH3TC2 ; CMT4C; FLJ13605; KIAA1985 | ||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 11596 | ||||||
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RNA expression pattern | |||||||
File:PBB GE SH3TC2 219710 at tn.png | |||||||
File:PBB GE SH3TC2 gnf1h08545 at tn.png | |||||||
More reference expression data | |||||||
Orthologs | |||||||
Template:GNF Ortholog box | |||||||
Species | Human | Mouse | |||||
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/a | n/a | |||||
PubMed search | n/a | n/a |
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]
References
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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