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 |
|---|---|---|---|
| RS147931490 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS148155691 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS148321018 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, SH3TC2-related disorder |
| RS148473467 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS1485527369 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS148634904 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve, mild |
| RS148793803 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, SH3TC2-related disorder, Charcot-Marie-Tooth disease type 4 |
| RS149077357 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS149244124 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS149762843 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS149873249 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Inborn genetic diseases |
| RS149973463 | 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 |
| RS151205080 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS151317042 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS1561765688 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 1B |
| RS17109205 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS1753660598 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS1754073023 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS181346624 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS183531576 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS185149793 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, SH3TC2-related disorder |
| RS186009343 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS186864272 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve, mild |
| RS187399485 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS187720692 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS187975909 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS189059447 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS189202481 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS189701174 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS190478262 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS199514987 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS199603042 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS200215156 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS200332172 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS200728983 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS200819602 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS200967041 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Susceptibility to mononeuropathy of the median nerve |
| RS201256776 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4 |
| RS201291203 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS201403149 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS201779392 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS201805333 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS201876002 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS201934740 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS201937366 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4 |
| RS201985394 | 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 |
| RS202052720 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease |
| RS369278337 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS369977771 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases |
| RS370025626 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |