SH3TC2 Chromosome 5
SH3 domain and tetratricopeptide repeats 2
Upload your DNA to see your personal genotypes for variants in SH3TC2.
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 |
|---|---|---|---|
| RS2127397072 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2127397555 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127397557 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127397561 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127398558 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127398588 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127399983 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C |
| RS2127400622 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2127400649 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127402263 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2531742851 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2531750218 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2531750264 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2531770358 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2531772249 | Health Risk | Pathogenic | — |
| RS2531772287 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2531772821 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2531773397 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2531773461 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2531773852 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2531774543 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2531774672 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS370115218 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Susceptibility to mononeuropathy of the median nerve |
| RS374869128 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS377509077 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS749850181 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS749963147 | Health Risk | Pathogenic | — |
| RS753287764 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve, mild |
| RS757701609 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS757797985 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Susceptibility to mononeuropathy of the median nerve, mild |
| RS758840181 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS761972717 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 |
| RS770170997 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS775740308 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS776221160 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4 |
| RS80338920 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C |
| RS80338921 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS80338924 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS80338929 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS80338931 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve |
| RS80338932 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C |
| RS80338934 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS80338936 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS80338937 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS863224520 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS864622663 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve |
| RS864622664 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C |
| RS878855092 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4 |
| RS879253859 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS879254317 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |