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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:61953075-62015715 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 34.78 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    980 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444417
protein coding gene Chr18:61952925-62015719 (.)
129S1/SvImJ MGP_129S1SvImJ_G0024487
protein coding gene Chr18:61878607-61943638 (+)
A/J MGP_AJ_G0024454
protein coding gene Chr18:59211849-59273130 (+)
AKR/J MGP_AKRJ_G0024424
protein coding gene Chr18:60850499-60915376 (+)
BALB/cJ MGP_BALBcJ_G0024453
protein coding gene Chr18:59351189-59415385 (+)
C3H/HeJ MGP_C3HHeJ_G0024221
protein coding gene Chr18:61081148-61145191 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024900
protein coding gene Chr18:63554670-63620091 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022331
protein coding gene Chr18:58758790-58821248 (+)
CAST/EiJ MGP_CASTEiJ_G0023694
protein coding gene Chr18:60967402-61035396 (+)
CBA/J MGP_CBAJ_G0024191
protein coding gene Chr18:65617094-65684634 (+)
DBA/2J MGP_DBA2J_G0024321
protein coding gene Chr18:58888840-58949600 (+)
FVB/NJ MGP_FVBNJ_G0024287
protein coding gene Chr18:58296963-58358632 (+)
LP/J MGP_LPJ_G0024405
protein coding gene Chr18:61740669-61821593 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024316
protein coding gene Chr18:67169370-67240494 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024947
protein coding gene Chr18:61064524-61126148 (+)
PWK/PhJ MGP_PWKPhJ_G0023437
protein coding gene Chr18:59121826-59185133 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023243
protein coding gene Chr18:61282578-61348223 (+)
WSB/EiJ MGP_WSBEiJ_G0023758
protein coding gene Chr18:60913722-60983162 (+)



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: HGNC, HomoloGene
  • Synonyms
    CMT4C, MNMN
  • Links
    NCBI Gene ID: 79628
    neXtProt AC: NX_Q8TF17
    UniProt: Q8TF17

  • Chr Location
    5q32; chr5:148982150-149063174 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 11596
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SH3TC2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Sh3tc2 mouse models; 1 with human SH3TC2 associations

Human Disease Mouse Models
      
IDs
View 1 model
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
less
  • Phenotype Summary
    17 phenotypes from 3 alleles in 3 genetic backgrounds
    7 phenotypes from multigenic genotypes
    10 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 34
      cDNA 34

      Microarray probesets 2
    References
    more
    • Summaries
      All 26
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 2
      Phenotypes 10
    • 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:246066 Sundberg JP, et al., Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PLoS One. 2017;12(7):e0180682

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    12/11/2018
    MGI 6.13
    The Jackson Laboratory