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Sh3tc2
Gene Detail
 Symbol
Name
ID
Sh3tc2
SH3 domain and tetratricopeptide repeats 2
MGI:2444417
Synonyms D430044G18Rik
Feature Type protein coding gene
Genetic Map
Chromosome 18
34.78 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr18:61953075-62015715 bp, + strand
From Ensembl annotation of GRCm38

  62641 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11596  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Gene Tree: Sh3tc2

Human
homologs
Human Homolog SH3TC2, SH3 domain and tetratricopeptide repeats 2
NCBI Gene ID 79628
neXtProt AC  NX_Q8TF17
Human Synonyms  CMT4C, MNMN
Human Chr (Location)  5q32; chr5:148982150-149063174 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human SH3TC2
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping.
 
Human Diseases Modeled Using Mouse Sh3tc2 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Sh3tc2 interacts with 170 markers (Mir16-1, Mir16-2, Mir22, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process myelination in peripheral nervous system, peripheral nervous system myelin maintenance, ...
Component cytoplasmic vesicle, plasma membrane, ...
Function protein binding
External Resources: FuncBase
Expression
cDNA source data(33)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(33) cDNA(33)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000045629 (Evidence)
Entrez Gene225608 (Evidence)
UniGene262320
DFCITC1579832, TC1593467, TC1596628, TC1597232
DoTSDT.101243005, DT.55137632, DT.55213438, DT.87030046, DT.94246385
NIA Mouse Gene IndexU018800
Consensus CDS ProjectCCDS37840.1
International Mouse Knockout Project StatusSh3tc2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000045629 Ensembl Gene Model | MGI Sequence Detail 62641 C57BL/6J ±  kb
transcript ENSMUST00000051720 Ensembl | MGI Sequence Detail 4536 Not Applicable 
polypeptide ENSMUSP00000055094 Ensembl | MGI Sequence Detail 1289 Not Applicable 

For the selected sequences
All sequences(51) RefSeq(12) UniProt(4)
Polymorphisms SNPs within 2kb(981 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001452 Src homology-3 domain
InterPro IPR011990 Tetratricopeptide-like helical
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR001440 Tetratricopeptide TPR-1
InterPro IPR011511 Variant SH3
Protein Ontology PR:000028841 SH3 domain and tetratricopeptide repeat-containing protein 2
References (Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:198542 Gouttenoire EA, et al., Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. Glia. 2013 Jul;61(7):1041-51
All references(24)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory