SH3TC2
| SH3TC2 | ||||||
|---|---|---|---|---|---|---|
| Identifiers | ||||||
Ensembl | ||||||
| UniProt | ||||||
| RefSeq (mRNA) | ||||||
| RefSeq (protein) | ||||||
| Location (UCSC) | Chr 5: 148.92 – 149.06 Mb | Chr 18: 62.09 – 62.16 Mb | ||||
| PubMed search | [3] | [4] | ||||
| 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
This gene encodes a protein with two
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
Clinical significance
Mutations in SH3TC2 are known to cause the following conditions:
- Charcot-Marie-Tooth disease type 4C, an autosomal recessive childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons;[6]
- Mononeuropathy of the median nerve (MNMN) at the wrist.[9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000169247 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045629 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 14574644.
- ^ a b c "Entrez Gene: SH3TC2 SH3 domain and tetratricopeptide repeats 2".
- PMID 20220177.
- PMID 19805030.
- ^ "UniProt". www.uniprot.org. Retrieved 2023-11-23.
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. 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. PMID 12477932.
- 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. 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. 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. 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. 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. 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. S2CID 20683529.
External links
- GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4
- GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4C
 | This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it. |