Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SH3TC2 contributors: mct/npt/pgu - updated : 18-02-2013
HGNC name SH3 domain and tetratricopeptide repeats 2
HGNC id 29427
Corresponding disease
CMT4C Charcot-Marie-Tooth disease, type 4C
Location 5q32      Physical location : 148.361.714 - 148.442.737
Synonym name
  • Charcot-Marie-Tooth disease, type 4C protein
  • KIAA1985 protein
    • Synonym symbol(s) CMTND, FLJ13605, KIAA1985
    DNA
    TYPE functioning gene
    STRUCTURE 81.03 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 26588 - 1288 - 2010 20826437
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea highly
    Nervousbraindiencephalonhypothalamus  
     spinal cord    
    Reproductivefemale systemplacenta  highly
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Nervousperipherous    Homo sapiensAdult
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousSchawnn cell Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N-terminal Src homology 3 (SH3) domains
  • ten tetratricopeptide repeat (TPR) motifs arranged in tandem arrays
    • HOMOLOGY
    interspecies ortholog to murine Sh3tc2
    Homologene
    FAMILY
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text localizes to the plasma membrane and to the perinuclear endocytic recycling compartment
    basic FUNCTION
  • playing a role in myelination and in the integrity of the node of Ranvier, a morphological phenotype that can be used as an additional CMT4C diagnostic marker
  • influences transferrin receptor dynamics, consistent with a functional role on the endocytic recycling pathway
  • essential role for the SH3TC2 gene in peripheral nerve myelination
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts preferentially with the GTP-bound form of RAB11, identifying SH3TC2 as a novel RAB11 effector
  • interacts with the small guanosine triphosphatase RAB11A, regulating the recycling of internalized membranes and receptors back to the cell surface (SH3TC2/RAB11A interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT4C
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Sh3tc2(DeltaEx1/DeltaEx1) mice demonstrated that these animals represent a valid model of CMT4C neuropathy and allowed us to unveil the Sh3tc2 function in the myelination process and in the node of Ranvier integrity