Gene: SH3TC2

Alternate names for this Gene: CMT4C|MNMN

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q32

Description of this Gene: SH3 domain and tetratricopeptide repeats 2

Type of Gene: protein-coding

rs80338923 in SH3TC2 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C PMID 22462672 2012 Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

PMID 23281072 2013 Charcot-Marie-Tooth disease type 4C in Japan: report of a case.

PMID 14574644 2003 Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

PMID 29321516 2018 Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

PMID 17470135 2007 The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

PMID 16326826 2005 A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.

PMID 27231023 2016 Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

PMID 26752306 2016 Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

PMID 22978647 2013 Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

PMID 16806930 2006 Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.

PMID 29184351 2019 Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

rs1554122541 in SH3TC2 gene and Charcot-Marie-Tooth Disease PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

PMID 18511281 2008 Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

PMID 16924012 2006 Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

PMID 14574644 2003 Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

PMID 19272779 2009 Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

rs1554120331 in SH3TC2 gene and Charcot-Marie-Tooth disease type 4 PMID 20220177 2010 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

PMID 26392352 2015 Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

PMID 27068304 2016 Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.

PMID 21291453 2011 High frequency of SH3TC2 mutations in Czech HMSN I patients.

PMID 27231023 2016 Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

PMID 19744956 2009 Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

PMID 14574644 2003 Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

PMID 16924012 2006 Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

PMID 20826437 2010 SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.

PMID 23553667 2013 Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

PMID 20028792 2010 Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.

PMID 25737037 2015 Phenotypic variability of CMT4C in a French-Canadian kindred.

PMID 18511281 2008 Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

PMID 22978647 2013 Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

PMID 17470135 2007 The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

PMID 16326826 2005 A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.

PMID 26752306 2016 Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 23281072 2013 Charcot-Marie-Tooth disease type 4C in Japan: report of a case.

PMID 28555600 2017 Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.

rs7704297 in SH3TC2 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

PMID 26390057 2015 Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

rs80338933 in SH3TC2 gene and Movement Disorders PMID 9120441 1997 Epidemiology of peripheral neuropathy.

PMID 21291453 2011 High frequency of SH3TC2 mutations in Czech HMSN I patients.

PMID 20220177 2010 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

PMID 19744956 2009 Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

rs1036190 in SH3TC2 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs11954893 in SH3TC2 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.