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

Gene ID: 307393, updated on 27-Nov-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, Nov 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
    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

  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

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

  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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