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 |
|---|---|---|---|
| RS757969875 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C |
| RS758276468 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS758669363 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4 |
| RS759096245 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS761592620 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763331671 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS764633604 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4C |
| RS76578570 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS768044718 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS768222032 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS768331573 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS769250455 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS769410348 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, type I |
| RS771093927 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS772780166 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS774401267 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS775429372 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS776623792 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS778936762 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Inborn genetic diseases |
| RS779447016 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS780523281 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS78346510 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS80227512 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve, mild |
| RS80338923 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C |
| RS80359890 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS863224780 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, Distal spinal muscular atrophy, Hereditary spastic paraplegia |
| RS886060195 | Health Risk | Conflicting classifications of pathogenicity | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS886060196 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS886060199 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS887057321 | 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 |
| RS1041389207 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1064793267 | Health Risk | Likely pathogenic | — |
| RS1198337036 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1463786931 | Health Risk | Likely pathogenic | Susceptibility to mononeuropathy of the median nerve, mild, Charcot-Marie-Tooth disease type 4C |
| RS1554121777 | Health Risk | Likely pathogenic | — |
| RS1554122560 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554122973 | Health Risk | Likely pathogenic | — |
| RS1561764569 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS1561770798 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1580889913 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS1580900150 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS1580900331 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1580900970 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2127392445 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127392454 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve, mild |
| RS2127392891 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127396985 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2127397160 | Health Risk | Likely pathogenic | — |
| RS2127401413 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127402305 | Health Risk | Likely pathogenic | Peripheral neuropathy, Peripheral neuropathy |