SH3TC2 (SH3 domain and tetratricopeptide repeats 2)

2014-11-01  

Identity

HGNC
LOCATION
5q32
LOCUSID
ALIAS
CMT4C,MNMN
FUSION GENES

Other Information

Locus ID:

NCBI: 79628
MIM: 608206
HGNC: 29427
Ensembl: ENSG00000169247

Variants:

dbSNP: 79628
ClinVar: 79628
TCGA: ENSG00000169247
COSMIC: SH3TC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169247ENST00000323829D6RA65
ENSG00000169247ENST00000502274Q8TF17
ENSG00000169247ENST00000504517H0Y8Q9
ENSG00000169247ENST00000504690E9PDF1
ENSG00000169247ENST00000510779H0Y9E7
ENSG00000169247ENST00000511307D6RFX2
ENSG00000169247ENST00000512049Q8TF17
ENSG00000169247ENST00000513604D6RA65
ENSG00000169247ENST00000515425Q8TF17
ENSG00000169247ENST00000515425A0A514TP98
ENSG00000169247ENST00000643113A0A2R8YCS9

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
145746442003Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.44
200287922010Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.25
197449562009Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.17
192727792009The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.13
212914532011High frequency of SH3TC2 mutations in Czech HMSN I patients.11
163268262005A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.10
174701352007The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.10
254299132014Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.10

Citation

Dessen P

SH3TC2 (SH3 domain and tetratricopeptide repeats 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73216/sh3tc2