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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]
SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2) is a Protein Coding gene. Diseases associated with SH3TC2 include Charcot-Marie-Tooth Disease, Type 4C and Mononeuropathy Of The Median Nerve, Mild. An important paralog of this gene is SH3TC1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0031410 | cytoplasmic vesicle | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0022011 | myelination in peripheral nervous system | IEA | -- |
GO:0032287 | peripheral nervous system myelin maintenance | IEA | -- |
GO:0033157 | regulation of intracellular protein transport | IEA | -- |
GO:1901184 | regulation of ERBB signaling pathway | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 17b | · | 17c | ^ | 18a | · | 18b | · | 18c | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | - | - | - | ||||||||
SP3: | |||||||||||
SP4: | - | ||||||||||
SP5: | |||||||||||
SP6: | |||||||||||
SP7: | |||||||||||
SP8: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SH3TC2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SH3TC2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SH3TC2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sh3tc2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sh3tc2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SH3TC2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SH3TC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SH3TC2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SH3TC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sh3tc2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sh3tc2 30 31 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
833911 | Conflicting Interpretations: Charcot-Marie-Tooth disease type 4; not provided | 149,026,989(-) |
T/A NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser) |
MISSENSE | |
836169 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 149,010,292(-) |
T/C NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg) |
MISSENSE | |
837335 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 149,026,731(-) |
G/A NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe) |
MISSENSE | |
838810 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 149,038,463(-) |
C/A NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val) |
MISSENSE | |
840555 | Uncertain Significance: Charcot-Marie-Tooth disease type 4 | 149,038,370(-) |
A/G NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3189n106 | CNV | deletion | 24896259 |
esv1942686 | CNV | deletion | 18987734 |
esv2674393 | CNV | deletion | 23128226 |
esv2730900 | CNV | deletion | 23290073 |
esv2730901 | CNV | deletion | 23290073 |
esv2730902 | CNV | deletion | 23290073 |
esv3566797 | CNV | deletion | 23714750 |
esv4129 | CNV | loss | 18987735 |
esv4454 | CNV | loss | 18987735 |
nsv1073922 | CNV | deletion | 25765185 |
nsv1140578 | CNV | deletion | 24896259 |
nsv1149180 | CNV | deletion | 26484159 |
nsv329604 | CNV | deletion | 16902084 |
nsv508383 | CNV | deletion | 20534489 |
nsv819535 | CNV | gain | 19587683 |
nsv830517 | CNV | gain | 17160897 |
nsv955858 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, type 4c |
|
|
mononeuropathy of the median nerve, mild |
|
|
neuropathy, congenital hypomyelinating, 1, autosomal recessive |
|
|
charcot-marie-tooth disease |
|
|
mononeuropathy |
|
|