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Sh3tc2 Gene Detail
Summary
  • Symbol
    Sh3tc2
  • Name
    SH3 domain and tetratricopeptide repeats 2
  • Synonyms
    D430044G18Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444417
    NCBI Gene: 225608
  • Gene Overview
    MyGene.info: SH3TC2
Location & Maps
more
  • Sequence Map
    Chr18:61953075-62015715 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      62641 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 34.78 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SH3TC2, SH3 domain and tetratricopeptide repeats 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SH3TC2, SH3 domain and tetratricopeptide repeats 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMT4C, MNMN
  • Links
    NCBI Gene ID: 79628
    neXtProt AC: NX_Q8TF17

  • Chr Location
    5q32; chr5:148982150-149063174 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Sh3tc2 mouse models; 2 with human SH3TC2 associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease, Type 4c; CMT4C   OMIM: 601596 View 1 model
       Mononeuropathy of the Median Nerve, Mild; MNMN   OMIM: 613353
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 3 alleles in 3 genetic backgrounds
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    980 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000028841 SH3 domain and tetratricopeptide repeat-containing protein 2
  • InterPro Domains
    IPR001452 SH3 domain
    IPR011990 Tetratricopeptide-like helical domain
    IPR019734 Tetratricopeptide repeat
    IPR011511 Variant SH3 domain
Molecular
Reagents
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  • All nucleic 33
    cDNA 33

    Microarray probesets 2
References
more
  • Summaries
    All 22
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 2
    Phenotypes 7
  • 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:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

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
09/20/2016
MGI 6.05
The Jackson Laboratory