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SH3TC2 Gene

protein-coding   GIFtS: 54
GCID: GC05M148303

SH3 Domain And Tetratricopeptide Repeats 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SH3 Domain And Tetratricopeptide Repeats 21 2
MNMN2 5
KIAA19853 5
CMT4C2
SH3 Domain And Tetratricopeptide Repeat-Containing Protein 22
SH3 Domain And Tetratricopeptide Repeats-Containing Protein 22

External Ids:    HGNC: 294271   Entrez Gene: 796282   Ensembl: ENSG000001692477   OMIM: 6082065   UniProtKB: Q8TF173   

Export aliases for SH3TC2 gene to outside databases

Previous GC identifers: GC05M148365 GC05M143506


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SH3TC2 Gene:
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)

GeneCards Summary for SH3TC2 Gene:
SH3TC2 (SH3 domain and tetratricopeptide repeats 2) is a protein-coding gene. Diseases associated with SH3TC2 include mononeuropathy, and mononeuropathy of the median nerve, mild. An important paralog of this gene is SH3TC1.

Gene Wiki entry for SH3TC2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH3TC2 gene promoter:
         SREBP-1c   Olf-1   LCR-F1   SREBP-1b   PPAR-gamma1   SREBP-1a   POU2F1   POU2F1a   FOXO4   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH3TC2 promoter sequence
   Search Chromatin IP Primers for SH3TC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH3TC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32   Ensembl cytogenetic band:  5q32   HGNC cytogenetic band: 5q32

SH3TC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3TC2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M148303:  view genomic region     (about GC identifiers)

Start:
148,303,202 bp from pter      End:
148,442,737 bp from pter
Size:
139,536 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: S3TC2_HUMAN, Q8TF17 (See protein sequence)
Recommended Name: SH3 domain and tetratricopeptide repeat-containing protein 2  
Size: 1288 amino acids; 144777 Da
Secondary accessions: B3KWE5 Q14CF5 Q9H8I5
Alternative splicing: 4 isoforms:  Q8TF17-1   Q8TF17-2   Q8TF17-3   Q8TF17-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH3TC2: NX_Q8TF17

Explore proteomics data for SH3TC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH3TC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078853.2  
    ENSEMBL proteins: 
     ENSP00000425627   ENSP00000313025   ENSP00000421779   ENSP00000421092   ENSP00000423940  
     ENSP00000423660   ENSP00000421860   ENSP00000423111   ENSP00000421420   ENSP00000441427  
     ENSP00000377886  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TTC: Tetratricopeptide (TTC) repeat domain containing

    4 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR001452 SH3_domain
     IPR001440 TPR_1
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q8TF17

    ProtoNet protein and cluster: Q8TF17

    UniProtKB/Swiss-Prot: S3TC2_HUMAN, Q8TF17
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 8 TPR repeats


    SH3TC2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    SH3TC2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SH3TC2:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sh3tc2):
     behavior/neurological  nervous system  skeleton 

    SH3TC2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SH3TC2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SH3TC2
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    miRNA
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    miRTarBase miRNAs that target SH3TC2:
    hsa-mir-1 (MIRT023599), hsa-mir-335-5p (MIRT017312)

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    Selected qRT-PCR Assays for microRNAs that regulate SH3TC2 (see all 112):
    hsa-miR-576-3p hsa-miR-607 hsa-miR-3938 hsa-miR-631 hsa-miR-146a hsa-miR-605 hsa-miR-877* hsa-miR-3161
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    endosome2
    nucleus2
    plasma membrane2
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0031410cytoplasmic vesicle IEA--
    GO:0055037recycling endosome IEA--

    SH3TC2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SH3TC2
    Interactions:

        Search GeneGlobe Interaction Network for SH3TC2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SH3TC2 (ENSP000003130254) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC7ENSP000000800594STRING: ENSP00000080059
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022011myelination in peripheral nervous system ----
    GO:0032287peripheral nervous system myelin maintenance IEA--
    GO:0033157regulation of intracellular protein transport IEA--
    GO:1901184regulation of ERBB signaling pathway IEA--

    SH3TC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SH3TC2 (S3TC2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SH3TC2 gene: 
    NM_024577.3  

    Unigene Cluster for SH3TC2:

    SH3 domain and tetratricopeptide repeats 2
    Hs.483784  [show with all ESTs]
    Unigene Representative Sequence: NM_024577
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504690(uc003lpp.1) ENST00000510350 ENST00000323829(uc010jgw.3 uc003lps.3 uc003lpt.3 uc010jgx.3 uc003lpu.3)
    ENST00000515229 ENST00000504517 ENST00000502274 ENST00000510779 ENST00000515425
    ENST00000512049 ENST00000513604(uc003lpv.1 uc011dbz.1) ENST00000511307
    ENST00000513340 ENST00000503071 ENST00000511949 ENST00000504091(uc003lpw.1)
    ENST00000538184 ENST00000394358

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SH3TC2 (see all 112):
    hsa-miR-576-3p hsa-miR-607 hsa-miR-3938 hsa-miR-631 hsa-miR-146a hsa-miR-605 hsa-miR-877* hsa-miR-3161
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SH3TC2
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      QuantiTect SYBR Green Assays in human, mouse, rat SH3TC2
      QuantiFast Probe-based Assays in human, mouse, rat SH3TC2

    Additional mRNA sequence: 

    AF086088.1 AK023641.1 AK092408.1 AK127050.1 AK127241.1 AK127442.1 AK128209.1 AK300420.1 
    AK309932.1 AY341075.1 BC113879.1 BC114486.1 

    10 DOTS entries:

    DT.307356  DT.70104572  DT.91661178  DT.100754247  DT.100754249  DT.101982714  DT.91801423  DT.212092 
    DT.101976202  DT.40243531 

    Selected AceView cDNA sequences (see all 113):

    BI054444 AJ278980 CR595950 AK127050 AJ011371 Z48150 BF509449 AJ278982 
    Y13584 CR608321 CF147797 AK095223 AK124854 NM_199453 AI033298 BQ213149 
    AY341075 BX283793 BE302852 AJ278979 BX386178 Y09586 Y12505 BC074755 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SH3TC2 (see all 8)    About this scheme

    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:                                                              -                                                                                             

    ExUns: 17b · 17c ^ 18a · 18b · 18c ^ 19
    SP1:                                    
    SP2:              -     -     -         
    SP3:                                    
    SP4:  -                                 
    SP5:                                    


    ECgene alternative splicing isoforms for SH3TC2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SH3TC2 expression in normal human tissues (normalized intensities)      SH3TC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SH3TC2 Expression
    About this image


    SH3TC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
    SH3TC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3TC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.483784

    UniProtKB/Swiss-Prot: S3TC2_HUMAN, Q8TF17
    Tissue specificity: Strongly expressed in brain and spinal cord. Expressed at equal level in spinal cord and
    sciatic nerve. Weakly expressed in striated muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3TC2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SH3TC2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3tc21 , 5 SH3 domain and tetratricopeptide repeats 21, 5 82.96(n)1
    81.66(a)1
      18 (34.78 cM)5
    2256081  NM_172628.21  NP_766216.21 
     619530755 
    chicken
    (Gallus gallus)
    Aves SH3TC21 SH3 domain and tetratricopeptide repeats 2 63.48(n)
    55.63(a)
      426627  XM_424256.4  XP_424256.4 
    lizard
    (Anolis carolinensis)
    Reptilia SH3TC26
    SH3 domain and tetratricopeptide repeats 2
    51(a)
    1 ↔ 1
    2(123096020-123167987)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sh3tc21 SH3 domain and tetratricopeptide repeats 2 54.47(n)
    46.85(a)
      100495600  XM_002939108.2  XP_002939154.2 
    zebrafish
    (Danio rerio)
    Actinopterygii sh3tc21 SH3 domain and tetratricopeptide repeats 2 51.53(n)
    43.57(a)
      100317983  XM_005173298.1  XP_005173355.1 


    ENSEMBL Gene Tree for SH3TC2 (if available)
    TreeFam Gene Tree for SH3TC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH3TC2 gene
    SH3TC12  
    2 SIMAP similar genes for SH3TC2 using alignment to 9 protein entries:     S3TC2_HUMAN (see all proteins):
    SH3TC1    FLJ00164

    SH3TC2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SH3TC2 (see all 1812)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0644214
    Mononeuropathy of the median nerve mild (MNMN)4--see VAR_0644212 Y H mis40--------
    VAR_0182694
    Charcot-Marie-Tooth disease 4C (CMT4C)4--see VAR_0182692 E K mis40--------
    VAR_0182704
    Charcot-Marie-Tooth disease 4C (CMT4C)4--see VAR_0182702 R C mis40--------
    VAR_0182684
    Charcot-Marie-Tooth disease 4C (CMT4C)4--see VAR_0182682 R Q mis40--------
    rs803389341,2
    Cpathogenic1148665445(-) ACTACC/TGAGTA 2 R * stg10--------
    rs803389331,2
    C,Fpathogenic1148682042(-) GGCATC/TGACAT 2 R * stg12Minor allele frequency- T:0.00NA EU 5875
    rs803389321,2
    Cpathogenic1148682073(-) TGTTAT/GGAAAT 2 /* /Y stg11Minor allele frequency- G:0.00NA 4550
    rs803389311,2
    C,Fpathogenic1148682192(-) CTGTAC/TGACTC 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs803389251,2
    Cpathogenic1148682933(-) TTGCCA/GAGCGC 2 K E mis10--------
    rs803389231,2
    Cpathogenic1148683316(-) TGCCCA/GTCTCT 2 H R mis10--------

    HapMap Linkage Disequilibrium report for SH3TC2 (148303202 - 148442737 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SH3TC2 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730901CNV Deletion23290073
    esv1942686CNV Deletion18987734
    esv2730900CNV Deletion23290073
    esv2730902CNV Deletion23290073
    esv4129CNV Deletion18987735
    esv4454CNV Deletion18987735
    esv2674393CNV Deletion23128226
    nsv508383CNV Loss20534489
    nsv329604CNV Loss16902084
    nsv819535CNV Gain19587683

    Human Gene Mutation Database (HGMD): SH3TC2
    Locus Specific Mutation Databases (LSDB): SH3TC2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608206   
    OMIM disorders: 601596  613353  
    UniProtKB/Swiss-Prot: S3TC2_HUMAN, Q8TF17
  • Charcot-Marie-Tooth disease 4C (CMT4C) [MIM:601596]: A recessive demyelinating form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth
    disease is classified in two main groups on the basis of electrophysiologic properties and histopathology:
    primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary
    peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve
    conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations
    on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow
    feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
    CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mononeuropathy of the median nerve mild (MNMN) [MIM:613353]: A disease characterized by median nerve
    mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal
    tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more
    widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy
    with liability to pressure palsies. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 20 diseases for SH3TC2:    About MalaCards
    mononeuropathy    mononeuropathy of the median nerve, mild    charcot-marie-tooth neuropathy type 4    charcot-marie-tooth neuropathy type 4c
    charcot-marie-tooth disease type 4    motor peripheral neuropathy    hereditary neuropathy with liability to pressure palsy    hereditary neuropathies
    hereditary neuropathy with liability to pressure palsies    tooth disease    charcot-marie-tooth disease    carpal tunnel syndrome
    peripheral neuropathy    axonal neuropathy    neuropathy    polyneuropathy
    myopathy    neuronitis    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for SH3TC2:
    Neuropathy     Myopathy

    SH3TC2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    GeneTests: SH3TC2
    GeneReviews: SH3TC2
    Genetic Association Database (GAD): SH3TC2
    Human Genome Epidemiology (HuGE) Navigator: SH3TC2 (4 documents)

    Export disorders for SH3TC2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for SH3TC2 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with SH3TC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. (PubMed id 14574644)1, 2, 3 Senderek J.... Zerres K. (Am. J. Hum. Genet. 2003)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    8. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. (PubMed id 20028792)1, 9 Roberts R.C....Luzio J.P. (Hum. Mol. Genet. 2010)
    9. Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. (PubMed id 19744956)1, 9 Lupo V....EspinA^s C. (Hum. Mol. Genet. 2009)
    10. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. (PubMed id 19272779)1, 9 Houlden H....Reilly M.M. (Neuromuscul. Disord. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 79628 HGNC: 29427 AceView: HTR4andKIAA1985 Ensembl:ENSG00000169247 euGenes: HUgn79628
    ECgene: SH3TC2 H-InvDB: SH3TC2

    (According to HUGE)
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    HUGE: KIAA1985

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SH3TC2 Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SH3TC2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SH3TC2 gene:
    Search GeneIP for patents involving SH3TC2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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