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

Gene ID: 225608, updated on 21-Apr-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 plasma membrane and recycling endosome. 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, Apr 2022]
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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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 (24) 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)
  • Spontaneous (1) 
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

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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