ENSMUSG00000045629


Mus musculus

Features
Gene ID: ENSMUSG00000045629
  
Biological name :Sh3tc2
  
Synonyms : Q80VA5 / SH3 domain and tetratricopeptide repeat-containing protein 2 / Sh3tc2
  
Possible biological names infered from orthology : Q8TF17 / SH3 domain and tetratricopeptide repeats 2
  
Species: Mus musculus
  
Chr. number: 18
Strand: 1
Band: E1
Gene start: 61953075
Gene end: 62015715
  
Corresponding Affymetrix probe sets: 10456140 (MoGene1.0st)   1456020_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000055094
NCBI entrez gene - 225608     See in Manteia.
MGI - MGI:2444417
RefSeq - XM_006525884
RefSeq - NM_172628
RefSeq - XM_006525882
RefSeq - XM_006525883
RefSeq - XM_006525881
RefSeq Peptide - NP_766216
swissprot - Q80VA5
Ensembl - ENSMUSG00000045629
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sh3tc2ENSDARG00000089917Danio rerio
 ENSGALG00000043688Gallus gallus
 ENSGALG00000044576Gallus gallus
 Q8TF17ENSG00000169247Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sh3tc1 / SH3 domain and tetratricopeptide repeats 1 / Q8TE82*ENSMUSG0000003655329


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR019734  Tetratricopeptide repeat
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0022011 myelination in peripheral nervous system IMP
 biological_processGO:0032287 peripheral nervous system myelin maintenance IMP
 biological_processGO:0033157 regulation of intracellular protein transport IMP
 biological_processGO:1901184 regulation of ERBB signaling pathway IMP
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0055037 recycling endosome IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Fbxl3M1Jt/Fbxl3M1Jt
Genetic Background: C57BL/6J-Fbxl3M1Jt

 MP:0000753 paralysis "loss of power of voluntary movement in a muscle through injury or disease of its nerve supply" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nrcamm1J/Nrcamm1J
Genetic Background: B6.Cg-Nrcamm1J/GrsrRwb

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc30a3tm1Rpa/Slc30a3tm1Rpa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0000921 demyelination "loss of the myelin sheath without loss of axons or fiber tracts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Fbxl3M1Jt/Fbxl3M1Jt
Genetic Background: C57BL/6J-Fbxl3M1Jt

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Nrcamm1J/Nrcamm1J,Sh3tc2m1J/Sh3tc2m1J
Genetic Background: B6.Cg-Nrcamm1J Sh3tc2m1J/GrsrRwb

 MP:0001106 abnormal Schwann cell "malformed or absent cells which form the insulating myelin sheaths of peripheral axons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fbxl3M1Jt/Fbxl3M1Jt
Genetic Background: C57BL/6J-Fbxl3M1Jt

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Slc30a3tm1Rpa/Slc30a3tm1Rpa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nrcamm1J/Nrcamm1J
Genetic Background: B6.Cg-Nrcamm1J/GrsrRwb

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc30a3tm1Rpa/Slc30a3tm1Rpa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0002269 muscular atrophy "a wasting of muscle tissue resulting in a derangement of the muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Nrcamm1J/Nrcamm1J,Sh3tc2m1J/Sh3tc2m1J
Genetic Background: B6.Cg-Nrcamm1J Sh3tc2m1J/GrsrRwb

 MP:0005403 abnormal nerve conduction "anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nrcamm1J/Nrcamm1J,Sh3tc2m1J/Sh3tc2m1J
Genetic Background: B6.Cg-Nrcamm1J Sh3tc2m1J/GrsrRwb

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Slc30a3tm1Rpa/Slc30a3tm1Rpa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0005562 decreased mean corpuscular hemoglobin "less than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0005642 decreased mean corpuscular hemoglobin concentration "less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:8936]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0008814 reduced nerve conduction velocity "decrease in the rate at which an eletrical impulse travels through a nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc30a3tm1Rpa/Slc30a3tm1Rpa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

Allelic Composition: Sh3tc2m1J/Sh3tc2m1J
Genetic Background: B6.Cg-Sh3tc2m1J/GrsrRwb

Allelic Composition: Nrcamm1J/Nrcamm1J,Sh3tc2m1J/Sh3tc2m1J
Genetic Background: B6.Cg-Nrcamm1J Sh3tc2m1J/GrsrRwb

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Sh3tc2m1J/Sh3tc2m1J
Genetic Background: B6.Cg-Sh3tc2m1J/GrsrRwb

 MP:0010559 heart block "a partial or complete obstruction of the propogation of electric impulses through the impulse conduction system of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sh3tc2m1J/Sh3tc2m1J
Genetic Background: B6.Cg-Sh3tc2m1J/GrsrRwb

Allelic Composition: Nrcamm1J/Nrcamm1J,Sh3tc2m1J/Sh3tc2m1J
Genetic Background: B6.Cg-Nrcamm1J Sh3tc2m1J/GrsrRwb

 MP:0010732 abnormal node of Ranvier morphology "any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon" [PMID:18929652]
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Allelic Composition: Slc30a3tm1Rpa/Slc30a3tm1Rpa
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0011731 decreased myelin sheath thickness "decrease in the depth of the insulating envelope that surrounds nerve fibers or axons" [MGI:smb]
Show

Allelic Composition: Sh3tc2m1J/Sh3tc2m1J
Genetic Background: B6.Cg-Sh3tc2m1J/GrsrRwb

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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