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 |
|---|---|---|---|
| RS10066882 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS10077543 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS1064795016 | Health Risk | Conflicting classifications of pathogenicity | SH3TC2-related disorder, SH3TC2-related disorder |
| RS112269889 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS113020040 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS113802539 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS114817736 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS1196218767 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4 |
| RS1222332332 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1233598157 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS138303846 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS138429238 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS138967360 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS139192433 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4 |
| RS139653980 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Tip-toe gait, Inborn genetic diseases |
| RS139898175 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS140307699 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C |
| RS140666774 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS140829706 | 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 |
| RS1408319932 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS140985600 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve, mild |
| RS141011337 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS141544031 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS141649676 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C |
| RS141715248 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS141783628 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS142451273 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Susceptibility to mononeuropathy of the median nerve, mild |
| RS142488510 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS142774907 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Tip-toe gait, Inborn genetic diseases |
| RS1428903431 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS142971473 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C |
| RS143032801 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4 |
| RS144655516 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS144688852 | 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 |
| RS144733764 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS144764160 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, SH3TC2-related disorder |
| RS144873879 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4 |
| RS144963732 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Susceptibility to mononeuropathy of the median nerve |
| RS145210501 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS145390629 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, SH3TC2-related disorder |
| RS145964634 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS146143252 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS146162276 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Susceptibility to mononeuropathy of the median nerve |
| RS146364285 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS146707871 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS146920285 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4 |
| RS147013935 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease |
| RS147490172 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS147502432 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS147633804 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve, mild |