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    Sh3tc2 SH3 domain and tetratricopeptide repeats 2 [ Mus musculus (house mouse) ]

    Gene ID: 225608, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Sh3tc2provided by MGI
    Official Full Name
    SH3 domain and tetratricopeptide repeats 2provided by MGI
    Primary source
    MGI:MGI:2444417
    See related
    Ensembl:ENSMUSG00000045629 AllianceGenome:MGI:2444417
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D430044G18Rik
    Summary
    Acts upstream of or within peripheral nervous system myelin maintenance; regulation of ERBB signaling pathway; and regulation of intracellular protein transport. Located in cytoplasmic vesicle and plasma membrane. Is expressed in several structures, including brain; genitourinary system; submandibular gland; thymus; and trachea. Used to study Charcot-Marie-Tooth disease type 4C. 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, Nov 2024]
    Expression
    Broad expression in lung adult (RPKM 4.5), bladder adult (RPKM 4.2) and 22 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sh3tc2 in Genome Data Viewer
    Location:
    18 E1; 18 34.78 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (62086002..62148790)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (61952928..62015719)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_44765 Neighboring gene predicted gene, 35919 Neighboring gene actin binding LIM protein family, member 3 Neighboring gene STARR-positive B cell enhancer ABC_E10996 Neighboring gene predicted gene, 35720 Neighboring gene STARR-seq mESC enhancer starr_44766 Neighboring gene predicted gene, 35778 Neighboring gene predicted gene, 35887

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy. Schiza N, et al. Brain, 2019 May 1. PMID 30907403, Free PMC Article
    2. 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
    3. 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
    4. Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes. Morelli KH, et al. Cell Rep, 2017 Mar 28. PMID 28355569, Free PMC Article
    5. 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

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The results of this study results indicate that the molecular mechanism for the axonal size sensing is disturbed in Sh3tc2-deficient myelinating Schwann cells.
      Title: Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
    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.
    3. Sh3tc2 is specifically expressed in Schwann cells and localizes to the plasma membrane and to the perinuclear endocytic recycling compartment in a mouse experimental model.
      Title: SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Spontaneous (1) 
    • Targeted (3)  1 citation

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within myelination in peripheral nervous system IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within peripheral nervous system myelin maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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_172628.3 → NP_766216.2  SH3 domain and tetratricopeptide repeat-containing protein 2

      See identical proteins and their annotated locations for NP_766216.2

      Status: VALIDATED

      Source sequence(s)
      AC091677, AC151896
      Consensus CDS
      CCDS37840.1
      UniProtKB/Swiss-Prot
      Q80VA5, Q8BWH2, Q8BXB8, Q8C0G6
      UniProtKB/TrEMBL
      Q3UPD8
      Related
      ENSMUSP00000055094.6, ENSMUST00000051720.6
      Conserved Domains (5) summary
      cd11885
      Location:271 → 325
      SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
      sd00006
      Location:1128 → 1155
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:1169 → 1198
      TPR_1; Tetratricopeptide repeat
      pfam07653
      Location:180 → 237
      SH3_2; Variant SH3 domain
      pfam13414
      Location:1169 → 1235
      TPR_11; TPR repeat

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      62086002..62148790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525883.4 → XP_006525946.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      Q3UPD8
      Related
      ENSMUSP00000158542.2, ENSMUST00000235652.2
      Conserved Domains (3) summary
      cd11885
      Location:305 → 359
      SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
      pfam07653
      Location:203 → 260
      SH3_2; Variant SH3 domain
      pfam17874
      Location:837 → 908
      TPR_MalT; MalT-like TPR region

    2. XM_006525881.5 → XP_006525944.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      Q3UPD8
      Conserved Domains (5) summary
      cd11885
      Location:305 → 359
      SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
      sd00006
      Location:1162 → 1189
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:1203 → 1232
      TPR_1; Tetratricopeptide repeat
      pfam07653
      Location:203 → 260
      SH3_2; Variant SH3 domain
      pfam17874
      Location:837 → 908
      TPR_MalT; MalT-like TPR region

    3. XM_006525882.5 → XP_006525945.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      Q3UPD8
      Conserved Domains (4) summary
      cd11885
      Location:235 → 289
      SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
      sd00006
      Location:1092 → 1119
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:1133 → 1162
      TPR_1; Tetratricopeptide repeat
      pfam07653
      Location:133 → 190
      SH3_2; Variant SH3 domain

    4. XM_006525884.4 → XP_006525947.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X4

      See identical proteins and their annotated locations for XP_006525947.1

      UniProtKB/TrEMBL
      Q6DFU9
      Conserved Domains (3) summary
      cd11885
      Location:1 → 50
      SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
      sd00006
      Location:853 → 880
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:894 → 923
      TPR_1; Tetratricopeptide repeat

    5. XM_006525885.2 → XP_006525948.1  SH3 domain and tetratricopeptide repeat-containing protein 2 isoform X4

      See identical proteins and their annotated locations for XP_006525948.1

      UniProtKB/TrEMBL
      Q6DFU9
      Related
      ENSMUSP00000158088.2, ENSMUST00000236759.2
      Conserved Domains (3) summary
      cd11885
      Location:1 → 50
      SH3_SH3TC; Src Homology 3 domain of SH3 domain and tetratricopeptide repeat-containing (SH3TC) proteins and similar domains
      sd00006
      Location:853 → 880
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:894 → 923
      TPR_1; Tetratricopeptide repeat
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80VA5.2 GenPept UniProtKB/Swiss-Prot:Q80VA5

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