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Sh3tc2 Gene Detail
 Symbol
Name
ID
Sh3tc2
SH3 domain and tetratricopeptide repeats 2
MGI:2444417

Nomenclature History
Synonyms D430044G18Rik
Genetic Map
Chromosome 18
Syntenic
 
Mapping data( 1)
Sequence Map
Chr18:62112729-62175369 bp, + strand
(From Ensembl annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
TreeFam: TF333167
Sequences
Representative Sequences Length Strain/Species Flank
genomic ENSMUSG00000045629 Ensembl Gene Model | MGI Sequence Detail 62641 C57BL/6J ± Kb
transcript NM_172628 RefSeq | MGI Sequence Detail 4562 C57BL/6
polypeptide Q80VA5 UniProt | EBI | MGI Sequence Detail 1289 Not Applicable
For the selected sequences
All sequences(39)
Alleles
and
phenotypes 		All alleles(3) : Targeted, other(3)
Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)  
Polymorphisms SNPs within 2kb(444 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications: (1 annotations)
Function binding
External Resources: FuncBase
Expression cDNA source data(33)
External Resources: Allen Brain Atlas  GEO  ArrayExpress 
Molecular
reagents 		All nucleic(33) cDNA(33)
Microarray probesets(1)
Other database
links
Ensembl Gene Model ENSMUSG00000045629
DoTS DT.101243005, DT.55137632, DT.55213438, DT.87030046, DT.94246385
Consensus CDS Project CCDS37840.1
UniGene 262320
DFCI TC1579832, TC1593467, TC1596628, TC1597232
NIA Mouse Gene Index U018800
Entrez Gene 225608
International Mouse Knockout Project Status Sh3tc2
Protein
domains
InterPro ID Description
IPR001440 Tetratricopeptide TPR-1
IPR001452 Src homology-3 domain
IPR011511 Variant SH3
IPR011990 Tetratricopeptide-like helical
IPR019734 Tetratricopeptide repeat
Graphical View of Protein Domain Structure
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:153705 Arnaud E et al., "SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system." Proc Natl Acad Sci U S A 2009 Oct 13;106(41):17528-33
All references(4)
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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Send questions and comments to User Support. 		last database update
02/06/2010
MGI_4.32
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