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    Sh3tc2 SH3 domain and tetratricopeptide repeats 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 307393, updated on 9-Dec-2024

    Summary

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    Symbol
    Sh3tc2provided by RGD
    Full Name
    SH3 domain and tetratricopeptide repeats 2provided by RGD
    Primary source
    RGD:1309038
    See related
    EnsemblRapid:ENSRNOG00000019305 AllianceGenome:RGD:1309038
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1309038
    Summary
    Predicted to be involved in regulation of ERBB signaling pathway and regulation of intracellular protein transport. Predicted to act upstream of or within peripheral nervous system myelin maintenance. Predicted to be located in cytoplasmic vesicle and plasma membrane. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4C. Orthologous to human SH3TC2 (SH3 domain and tetratricopeptide repeats 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 147.9), Lung (RPKM 63.6) and 8 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Sh3tc2 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (57686701..57747735)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (55416383..55477419)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (57286266..57403926)

    Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC120098202 Neighboring gene uncharacterized LOC134483038 Neighboring gene uncharacterized LOC120098151 Neighboring gene adrenoceptor beta 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. Stendel C, et al. Brain, 2010 Aug. PMID 20826437
    2. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Arnaud E, et al. Proc Natl Acad Sci U S A, 2009 Oct 13. PMID 19805030, Free PMC Article
    3. Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C. Vijay S, et al. Biochim Biophys Acta, 2016 Jul. PMID 27068304, Free PMC Article
    4. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Senderek J, et al. Am J Hum Genet, 2003 Nov. PMID 14574644, Free PMC Article
    5. Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. Gouttenoire EA, et al. Glia, 2013 Jul. PMID 23553667

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Rab11 effector SH3TC2 associates with integrin-alpha 6, which is expressed in myelinating Schwann cells.
      Title: Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.
    2. Our data indicate that the SH3TC2/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination.
      Title: SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    acts_upstream_of_or_within myelination in peripheral nervous system ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within peripheral nervous system myelin maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of ERBB signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of ERBB signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    SH3 domain and tetratricopeptide repeat-containing protein 2
    Names
    SH3 domain and tetratricopeptide repeats-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001427096.1 → NP_001414025.1  SH3 domain and tetratricopeptide repeat-containing protein 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000018
      UniProtKB/TrEMBL
      A6IXJ3
      Related
      ENSRNOP00000026174.6, ENSRNOT00000026174.9

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086036.1 Reference GRCr8

      Range
      57686701..57747735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039097415.2 → XP_038953343.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      A0A8I5ZSY8
      Related
      ENSRNOP00000081796.1, ENSRNOT00000098535.2
      Conserved Domains (2) summary
      cd11885
      Location:294 → 348
      SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
      pfam07653
      Location:203 → 258
      SH3_2; Variant SH3 domain

    2. XM_063277342.1 → XP_063133412.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZSY8

    3. XM_006254817.5 → XP_006254879.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006254879.1

      UniProtKB/TrEMBL
      A0A8I5ZSY8
      Conserved Domains (4) summary
      cd11885
      Location:294 → 348
      SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
      sd00006
      Location:1188 → 1218
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:1191 → 1220
      TPR_1; Tetratricopeptide repeat
      pfam07653
      Location:203 → 260
      SH3_2; Variant SH3 domain

    4. XM_039097416.2 → XP_038953344.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      A0A8I5ZSY8
      Conserved Domains (4) summary
      smart00028
      Location:985 → 1014
      TPR; Tetratricopeptide repeats
      cd11885
      Location:88 → 142
      SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
      smart00326
      Location:8 → 52
      SH3; Src homology 3 domains
      sd00006
      Location:982 → 1012
      TPR; TPR repeat [structural motif]

    5. XM_063277343.1 → XP_063133413.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      A0A8I5ZSY8

    6. XM_063277345.1 → XP_063133415.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X4

      UniProtKB/TrEMBL
      A0A8I5ZSY8

    7. XM_039097417.2 → XP_038953345.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X5

      Conserved Domains (2) summary
      smart00028
      Location:761 → 790
      TPR; Tetratricopeptide repeats
      sd00006
      Location:758 → 788
      TPR; TPR repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version

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