| Type | Description |
|---|---|
| Definition | SH3 domain and tetratricopeptide repeats 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-09-19 16:31:00 | Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. | 31634715 |
| 2020-06-06 11:37:00 | Mutations in SH3TC2 are responsible for 26% of Greek patients with suspected CMT4C. | 30653784 |
| 2019-12-28 11:44:00 | Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients. | 31227790 |
| 2019-03-30 10:23:00 | This present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of SH3TC2. | 28981955 |
| 2018-08-18 10:42:00 | SH3TC2, PMP2, and BSCL2 pathogenic variants might be rare in Chinese Charcot-Marie-Tooth (CMT) patients. | 29336362 |
| Type | IDs |
|---|---|
| Synonymous | CMT4C, MNMN |
| Gene |
UniProtKB-ID:
S3TC2_HUMAN,
A0A514TP98_HUMAN
UniprotKB:
Q8TF17,
A0A514TP98
UniParc:
UPI000006E1E0,
UPI0000DA6BE1,
UPI00001DFBEE,
UPI000022EE46,
UPI00001C0DDC
EMBL:
AK124854,
AK127248,
AC116312,
BC113879,
AY341075,
AF370410,
CH471062,
MK193740,
AC011364,
AK023667,
BC114486,
AB075865
Ensembl:
ENSG00000169247
KO:
hsa:79628
|
| Nucleutide sequences |
EMBL-CDS:
BAB14631.1,
AAR03497.1,
BAC86899.1,
BAG54107.1,
AAQ15246.1,
EAW61796.1,
BAB85571.1,
AAI14487.1,
AAI13880.1,
QDJ94318.1
Gene_ORFName:
PP12494
Ensembl_TRS:
ENST00000515425,
ENST00000502274,
ENST00000512049
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000423660,
ENSP00000421092,
ENSP00000421860
RefSeq:
NP_078853.2
|
| Others |
UniRef100:
UniRef100_Q8TF17
UniRef90:
UniRef90_Q8TF17
UniRef50:
UniRef50_Q8TF17
UniGene:
Hs.483784
CCDS:
CCDS4293.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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