ENSMUSG00000028488


Mus musculus

Features
Gene ID: ENSMUSG00000028488
  
Biological name :Sh3gl2
  
Synonyms : Q62420 / SH3-domain GRB2-like 2 / Sh3gl2
  
Possible biological names infered from orthology : Q99962 / SH3 domain containing GRB2 like 2, endophilin A1
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: C4
Gene start: 85205126
Gene end: 85639195
  
Corresponding Affymetrix probe sets: 10505705 (MoGene1.0st)   1418791_at (Mouse Genome 430 2.0 Array)   1418792_at (Mouse Genome 430 2.0 Array)   1449228_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000102806
Ensembl peptide - ENSMUSP00000117573
Ensembl peptide - ENSMUSP00000102807
Ensembl peptide - ENSMUSP00000030212
Ensembl peptide - ENSMUSP00000102802
NCBI entrez gene - 20404     See in Manteia.
MGI - MGI:700009
RefSeq - XM_006537710
RefSeq - NM_019535
RefSeq Peptide - NP_062408
swissprot - A2ALV1
swissprot - A2ALV3
swissprot - Q62420
swissprot - Q8BXU5
swissprot - F6ZL13
Ensembl - ENSMUSG00000028488
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 SH3GL2 (1 of many)ENSDARG00000039901Danio rerio
 sh3gl2aENSDARG00000023600Danio rerio
 Q8AXV1ENSGALG00000015096Gallus gallus
 Q99962ENSG00000107295Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q62419 / Sh3gl1 / SH3-domain GRB2-like 1 / Q99961* / SH3 domain containing GRB2 like 1, endophilin A2*ENSMUSG0000000320074
Sh3gl3 / endophilin-A3 isoform 3 / Q99963* / SH3 domain containing GRB2 like 3, endophilin A3*ENSMUSG0000003063866
Q8R3V5 / Sh3glb2 / SH3-domain GRB2-like endophilin B2 / Q9NR46* / SH3 domain containing GRB2 like, endophilin B2*ENSMUSG0000002686026
Q9JK48 / Sh3glb1 / Endophilin-B1 / Q9Y371* / SH3 domain containing GRB2 like, endophilin B1*ENSMUSG0000003706226


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR004148  BAR domain
 IPR027267  AH/BAR domain superfamily
 IPR028501  Endophilin-A
 IPR035824  Endophilin-A, SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002090 regulation of receptor internalization IDA
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0016191 synaptic vesicle uncoating IGI
 biological_processGO:0031175 neuron projection development IMP
 biological_processGO:0048488 synaptic vesicle endocytosis IGI
 biological_processGO:0097484 dendrite extension IMP
 biological_processGO:0097749 membrane tubulation IEA
 biological_processGO:0097753 membrane bending IEA
 biological_processGO:0099050 vesicle scission IEA
 biological_processGO:1990416 cellular response to brain-derived neurotrophic factor stimulus IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
Retrograde neurotrophin signalling
EGFR downregulation
MHC class II antigen presentation
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Recycling pathway of L1
Negative regulation of MET activity
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
Show

Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0001539 decreased number of caudal vertebrae "reduced number of the bony segments of the tail" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

Allelic Composition: Sh3gl1tm1Pdc/Sh3gl1tm1Pdc,Sh3gl2tm1Pdc/Sh3gl2+,Sh3gl3tm1.2Itl/Sh3gl3tm1.2Itl
Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BL/6J * FVB/N * SJL

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 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: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0002761 abnormal hippocampal mossy fiber morphology "absence or misprojection of axons of neuronal cells in the dentate gyrus" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:4978]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0002764 short tibia " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0002916 increased synaptic depression "increase in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0003795 abnormal bone structure 
Show

Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0003961 decreased lean body mass "less than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
Show

Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0004770 abnormal synaptic vesicle recycling "any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0004792 abnormal synaptic vesicle number "anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 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]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 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"]
Show

Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Setxtm1b(EUCOMM)Wtsi/Setxtm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Setxtm1b(EUCOMM)Wtsi/Ics

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

 MP:0011270 decreased excitatory postsynaptic current amplitude "reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave" [MGI:csmith]
Show

Allelic Composition: Vangl2M1Yzcm/Vangl2+
Genetic Background: either: C57BL/6J-Vangl2m1Yzcm or (involves: C3H/HeJ * C57BL/6J)

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002957 Ap2a2 / P17427 / Mus musculus adaptor-related protein complex 2, alpha 2 subunit (Ap2a2), transcript variant 1, mRNA. / O94973* / adaptor related protein complex 2 alpha 2 subunit*  / complex / reaction
 ENSMUSG00000022841 Ap2m1 / P84091 / AP-2 complex subunit mu / Q96CW1* / adaptor related protein complex 2 mu 1 subunit*  / complex / reaction
 ENSMUSG00000035152 Ap2b1 / Q9DBG3 / AP-2 complex subunit beta / P63010* / adaptor related protein complex 2 beta 1 subunit*  / complex / reaction
 ENSMUSG00000026718 Stam / P70297 / signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 / Q92783* / signal transducing adaptor molecule*  / reaction / complex
 ENSMUSG00000022420 Dnal4 / Q9DCM4 / Dynein light chain 4, axonemal / O96015* / dynein axonemal light chain 4*  / reaction
 ENSMUSG00000009376 Met / MET proto-oncogene, receptor tyrosine kinase / P08581*  / reaction / complex
 ENSMUSG00000059923 Grb2 / Q60631 / Growth factor receptor-bound protein 2 / P62993*  / complex / reaction
 ENSMUSG00000067341 H2-Eb2 / Q9GIY3* / P01911* / P04229* / Q29974* / Q30154* / HLA-DRB5* / HLA-DRB1* / major histocompatibility complex, class II, DR beta 1* / major histocompatibility complex, class II, DR beta 5*  / complex
 ENSMUSG00000028488 Q62420 / Sh3gl2 / SH3-domain GRB2-like 2 / Q99962* / SH3 domain containing GRB2 like 2, endophilin A1*  / complex
 ENSMUSG00000027859 Ngf / P01139 / Beta-nerve growth factor / P01138* / nerve growth factor*  / complex
 ENSMUSG00000008036 Ap2s1 / P62743 / AP-2 complex subunit sigma / P53680* / adaptor related protein complex 2 sigma 1 subunit*  / complex / reaction
 ENSMUSG00000028864 Hgf / Q08048 / Hepatocyte growth factor Hepatocyte growth factor alpha chain Hepatocyte growth factor beta chain / P14210* / hepatocyte growth factor*  / complex / reaction
 ENSMUSG00000060279 Ap2a1 / P17426 / AP-2 complex subunit alpha-1 / O95782* / adaptor related protein complex 2 alpha 1 subunit*  / reaction / complex
 ENSMUSG00000036594 H2-Aa / P14434 / H-2 class II histocompatibility antigen, A-B alpha chain / P01909* / P01906* / HLA-DQA2* / HLA-DQA1* / major histocompatibility complex, class II, DQ alpha 2* / major hist...  / complex
 ENSMUSG00000060586 H2-Eb1 / Q9GIY3* / P01911* / P04229* / Q29974* / Q30154* / HLA-DRB5* / HLA-DRB1* / major histocompatibility complex, class II, DR beta 1* / major histocompatibility complex, class II, DR beta 5*  / complex
 ENSMUSG00000020122 Egfr / Q01279 / Epidermal growth factor receptor / P00533*  / reaction
 ENSMUSG00000073421 H2-Ab1 / P14483 / histocompatibility 2, class II antigen A, beta 1 / P05538* / HLA-DQB1* / HLA-DQB2* / major histocompatibility complex, class II, DQ beta 1* / major histocompatibility comp...  / complex
 ENSMUSG00000033335 Dnm2 / P39054 / Mus musculus dynamin 2 (Dnm2), transcript variant 5, mRNA. / P50570* / dynamin 2*  / complex
 ENSMUSG00000024610 Cd74 / P04441 / CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) / P04233* / CD74 molecule*  / complex
 ENSMUSG00000034342 Cbl / P22682 / E3 ubiquitin-protein ligase CBL / P22681* / Cbl proto-oncogene*  / complex / reaction
 ENSMUSG00000028017 Egf / P01132 / Mus musculus epidermal growth factor (Egf), transcript variant 3, mRNA. / P01133* / epidermal growth factor*  / reaction
 ENSMUSG00000028072 Ntrk1 / Q3UFB7 / High affinity nerve growth factor receptor / P04629* / neurotrophic receptor tyrosine kinase 1*  / complex
 ENSMUSG00000028552 Eps15 / P42567 / Epidermal growth factor receptor substrate 15 / P42566* / epidermal growth factor receptor pathway substrate 15*  / reaction / complex
 ENSMUSG00000034311 Kif4 / P33174 / Chromosome-associated kinesin KIF4 / KIF4A* / KIF4B* / Q2VIQ3* / O95239* / kinesin family member 4B* / kinesin family member 4A*  / complex
 ENSMUSG00000063358 Mapk1 / P63085 / Mus musculus mitogen-activated protein kinase 1 (Mapk1), transcript variant 3, mRNA. / P28482* / mitogen-activated protein kinase 1*  / complex / reaction
 ENSMUSG00000040990 Q8R550 / Sh3kbp1 / SH3 domain-containing kinase-binding protein 1 / Q96B97*  / complex
 ENSMUSG00000055371 Stam2 / O88811 / signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 / O75886* / signal transducing adaptor molecule 2*  / complex / reaction






 

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