SH3TC2 Chromosome 5
SH3 domain and tetratricopeptide repeats 2
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000169247
Associated Conditions (22)
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Inborn genetic diseases
SH3TC2-related disorder
Susceptibility to mononeuropathy of the median nerve
mild
Charcot-Marie-Tooth disease type 4C
Tip-toe gait
Delayed speech and language development
Pes cavus
limited range of motion of the upper ankle
Cervical cancer
Gastric cancer
Acute myeloid leukemia
Charcot-Marie-Tooth disease type 1B
Hereditary motor neuron disease
Hereditary motor and sensory neuropathy
type I
7 conditions
Distal spinal muscular atrophy
+2 more conditions
Key Variants
RS10066882
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS10077543
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS1064795016
Conflicting classifications of pathogenicity
SH3TC2-related disorder, SH3TC2-related disorder
Health Risk
RS112269889
Conflicting classifications of pathogenicity
Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C
Health Risk
RS113020040
Conflicting classifications of pathogenicity
Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C
Health Risk
RS113802539
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild
Health Risk
RS114817736
Conflicting classifications of pathogenicity
Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C
Health Risk
RS1196218767
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4
Health Risk
RS1222332332
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
Health Risk
RS1233598157
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS138303846
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS138429238
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
All Variants (322)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS370613184 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Hereditary motor neuron disease, Inborn genetic diseases |
| RS373153093 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS374516818 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS375970910 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve, mild |
| RS376266262 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS376389928 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS529868327 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS530824367 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS532463685 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 |
| RS535127091 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS536334280 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS537049075 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4 |
| RS537134516 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS537285537 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS537759361 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS541197556 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve |
| RS545698794 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS546816780 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS547028114 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS547035706 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS551803988 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS552963495 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS557452648 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS559578990 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS559833500 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS562689036 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease type 4 |
| RS563916447 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS567173388 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS569378409 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS569974719 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve, mild |
| RS571440448 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS572081330 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS574669908 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve, mild |
| RS575937427 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve |
| RS6874630 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve |
| RS72835351 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS748413646 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS748870159 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS749008572 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS750746661 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS751621364 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, SH3TC2-related disorder |
| RS752002618 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4C |
| RS752528409 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve |
| RS753381949 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS755006924 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS755054839 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS755570739 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS755748579 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS756857216 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS75711075 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |