Property Summary

NCBI Gene PubMed Count 28
PubMed Score 171.68
PubTator Score 45.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 2.700 4.6e-08
osteosarcoma -1.565 8.8e-06

Gene RIF (17)

PMID Text
26829735 A homozygous missense mutation c.1894G>A of SH3TC2 is associated with Charcot-Marie-Tooth disease type 4C.
25737037 DNA sequence analysis in a French-Canadian family revealed a novel combination of 2 known recessive mutations, p.R904X and p.R954X, in the SH3TC2 gene.
25429913 The novelty of our data is the relatively high frequency of SH3TC2 and GDAP1 mutations in demyelinating and axonal forms, respectively, of Charcot-Marie-Tooth disease
24833716 SH3TC2 is regulated by the transcription factors CREB and SOX10, define a regulatory SNP at this disease-associated locus and reveal SH3TC2 as a candidate modifier locus of CMT disease phenotypes.
22978647 Data indicate that the most frequent form is SH3TC2 gene (CMT4C; 57.14%), followed by HK1 gene causative of CMT4G (CMT4G/HMSN-Russe 25%) and NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom; 17.86%).
22950825 This study presented evidence that mutations c.279G --> A and c.3676-8G -->A in the SH3TC2 gene cause aberrant splicing and are therefore pathogenic and causal for CMT4C.
21291453 Mutations in the SH3TC2 gene are a frequent cause of HMSN I in Czech patients.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20028792 Mistargeting of SH3TC2 away from the recycling endosome is the fundamental molecular defect that leads to Charcot-Marie-Tooth disease type 4C.
19744956 Missense mutations in the SH3TC2 causing Charcot-Marie-Tooth disease type 4C affect its localization to plasma membrane.
19272779 Structural alterations to the SH3TC2 gene could possibly predispose to peripheral nerve inflammation.
19240061 Observational study of gene-disease association. (HuGE Navigator)
18511281 Linkage analysis confirmed that all families are linked to CMT4C locus on chromosome 5q32 (multipoint LOD score of 9.06). Haplotype analysis suggests that two SH3TC2 mutations are present in this cohort
17470135 the SH3TC2 p.R1109X mutation is associated with a conserved haplotype and, therefore, may be a private founder mutation for the Gypsy population
16326826 a founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
14574644 mutations in an uncharacterized transcript, KIAA1985, in 12 families with autosomal recessive neuropathy
11716477 This paper presents an analysis of the SH3TC2 promoter after identifying a read-through transcript of the SH3TC2 and HTR4 loci. Available data suggests HTR4 is a separate locus with its own promoter, and not the product of a bi-cistronic transcript.

AA Sequence

MGGCFCIPRERSLTRGPGKETPSKDPTVSSECIASSEYKEKCFLPQNINPDLTLSFCVKSRSRRCVNGPL      1 - 70
QEAARRRLWALENEDQEVRMLFKDLSARLVSIQSQRAQFLITFKTMEEIWKFSTYLNLGYVSMCLEHLLF     71 - 140
DHKYWLNCILVEDTEIQVSVDDKHLETIYLGLLIQEGHFFCRALCSVTPPAEKEGECLTLCKNELISVKM    141 - 210
AEAGSELEGVSLVTGQRGLVLVSALEPLPLPFHQWFLKNYPGSCGLSRKRDWTGSYQIGRGRCKALTGYE    211 - 280
PGEKDELNFYQGESIEIIGFVIPGLQWFIGKSTSSGQVGFVPTRNIDPDSYSPMSRNSAFLSDEERCSLL    281 - 350
ALGSDKQTECSSFLHTLARTDITSVYRLSGFESIQNPPNDLSASQPEGFKEVRPGRAWEEHQAVGSRQSS    351 - 420
SSEDSSLEEELLSATSDSYRLPEPDDLDDPELLMDLSTGQEEEAENFAPILAFLDHEGYADHFKSLYDFS    421 - 490
FSFLTSSFYSFSEEDEFVAYLEASRKWAKKSHMTWAHARLCFLLGRLSIRKVKLSQARVYFEEAIHILNG    491 - 560
AFEDLSLVATLYINLAAIYLKQRLRHKGSALLEKAGALLACLPDRESSAKHELDVVAYVLRQGIVVGSSP    561 - 630
LEARACFLAIRLLLSLGRHEEVLPFAERLQLLSGHPPASEAVASVLSFLYDKKYLPHLAVASVQQHGIQS    631 - 700
AQGMSLPIWQVHLVLQNTTKLLGFPSPGWGEVSALACPMLRQALAACEELADRSTQRALCLILSKVYLEH    701 - 770
RSPDGAIHYLSQALVLGQLLGEQESFESSLCLAWAYLLASQAKKALDVLEPLLCSLKETESLTQRGVIYN    771 - 840
LLGLALQGEGRVNRAAKSYLRALNRAQEVGDVHNQAVAMANLGHLSLKSWAQHPARNYLLQAVRLYCELQ    841 - 910
ASKETDMELVQVFLWLAQVLVSGHQLTHGLLCYEMALLFGLRHRHLKSQLQATKSLCHFYSSVSPNPEAC    911 - 980
ITYHEHWLALAQQLRDREMEGRLLESLGQLYRNLNTARSLRRSLTCIKESLRIFIDLGETDKAAEAWLGA    981 - 1050
GRLHYLMQEDELVELCLQAAIQTALKSEEPLLALKLYEEAGDVFFNGTRHRHHAVEYYRAGAVPLARRLK   1051 - 1120
AVRTELRIFNKLTELQISLEGYEKALEFATLAARLSTVTGDQRQELVAFHRLATVYYSLHMYEMAEDCYL   1121 - 1190
KTLSLCPPWLQSPKEALYYAKVYYRLGRLTFCQLKDAHDATEYFLLALAAAVLLGDEELQDTIRSRLDNI   1191 - 1260
CQSPLWHSRPSGCSSERARWLSGGGLAL                                             1261 - 1288
//

Text Mined References (27)

PMID Year Title
26829735 2016 [Mutation analysis for a family affected with Charcot-Marie-Tooth disease type 4C].
25737037 2015 Phenotypic variability of CMT4C in a French-Canadian kindred.
25429913 2014 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
24833716 2014 Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.
22978647 2013 Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
22950825 2012 Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.
21291453 2011 High frequency of SH3TC2 mutations in Czech HMSN I patients.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20220177 2010 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
20028792 2010 Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.
19744956 2009 Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
19272779 2009 The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
18511281 2008 Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
17470135 2007 The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16326826 2005 A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574644 2003 Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11853319 2001 Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.
11752282 2002 HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project.
11716477 2001 Identification and characterization of the human serotonin-4 receptor gene promoter.
8894708 1996 Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.