Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79628
MIM: 608206
HGNC: 29427
Ensembl: ENSG00000169247
Variants:
dbSNP: 79628
ClinVar: 79628
TCGA: ENSG00000169247
COSMIC: SH3TC2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37372933 | 2023 | Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. | 1 |
| 37929431 | 2023 | Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort. | 1 |
| 37372933 | 2023 | Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy. | 1 |
| 37929431 | 2023 | Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort. | 1 |
| 33587240 | 2022 | Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. | 4 |
| 33587240 | 2022 | Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. | 4 |
| 30653784 | 2019 | Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. | 4 |
| 31227790 | 2019 | Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients. | 5 |
| 31634715 | 2019 | Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. | 7 |
| 30653784 | 2019 | Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. | 4 |
| 31227790 | 2019 | Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients. | 5 |
| 31634715 | 2019 | Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. | 7 |
| 28981955 | 2018 | Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. | 6 |
| 29336362 | 2018 | Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth. | 2 |
| 28981955 | 2018 | Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. | 6 |
Citation
Dessen P
SH3TC2 (SH3 domain and tetratricopeptide repeats 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73216/sh3tc2-(sh3-domain-and-tetratricopeptide-repeats-2)
