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 |
|---|---|---|---|
| RS2127403412 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4 |
| RS2531750186 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2531773136 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2531787615 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2531791358 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS2531793055 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS750529207 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4 |
| RS758871406 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS773554464 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS863224781 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve |
| RS879254057 | Health Risk | Likely pathogenic | — |
| RS879254316 | Health Risk | Likely pathogenic | — |
| RS929383309 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS1168949722 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1196877210 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1206217022 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1222150652 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, type I |
| RS1248359114 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4 |
| RS1308058909 | Health Risk | Pathogenic | — |
| RS1318388071 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS1319576439 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS141091803 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1424688946 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS147895061 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve |
| RS1554120215 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS1554120331 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554121665 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554121691 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1554122541 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease |
| RS1561764735 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1561764925 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1561765311 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1561770179 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS1580889866 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease |
| RS1580891465 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1580900473 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS1580900758 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease |
| RS1580901363 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1580907885 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS1580917130 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS1580917136 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease |
| RS1753702797 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1754094644 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease |
| RS1754097044 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1754104323 | Health Risk | Pathogenic | — |
| RS1754371447 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4 |
| RS1754425628 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C |
| RS1754427074 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127392839 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2127393407 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |