AutismKB 2.0

Annotation Detail for SH3TC2


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Basic Information Top
Gene Symbol:SH3TC2 ( CMT4C,FLJ13605,KIAA1985,MNMN )
Gene Full Name: SH3 domain and tetratricopeptide repeats 2
Band: 5q32
Quick LinksEntrez ID:79628; OMIM: 608206; Uniprot ID:S3TC2_HUMAN; ENSEMBL ID: ENSG00000169247; HGNC ID: 29427
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1791Neuropathy
No data
No data
Desease Name
Mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease, type 4C
Comparative Toxicogenomics Database Top
No data
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:C535423 Charcot-Marie-Tooth disease, Type 4C marker/mechanism
OMIM:613353 MONONEUROPATHY OF THE MEDIAN NERVE, MILD marker/mechanism
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134951912
    • No data
    Releated disease ID Related disease Name
    PA443690Charcot-Marie-Tooth Disease
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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