ENSMUSG00000000594


Mus musculus

Features
Gene ID: ENSMUSG00000000594
  
Biological name :Gm2a
  
Synonyms : Ganglioside GM2 activator / Gm2a / Q60648
  
Possible biological names infered from orthology : GM2 ganglioside activator / P17900
  
Species: Mus musculus
  
Chr. number: 11
Strand: 1
Band: B1.3
Gene start: 55098115
Gene end: 55113029
  
Corresponding Affymetrix probe sets: 10376208 (MoGene1.0st)   1416188_at (Mouse Genome 430 2.0 Array)   1442203_at (Mouse Genome 430 2.0 Array)   1448241_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000000608
NCBI entrez gene - 14667     See in Manteia.
MGI - MGI:95762
RefSeq - NM_010299
RefSeq Peptide - NP_034429
swissprot - Q5F1Z8
swissprot - Q60648
Ensembl - ENSMUSG00000000594
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gm2aENSDARG00000088439Danio rerio
 LO018208.1ENSDARG00000107431Danio rerio
 GM2AENSGALG00000027534Gallus gallus
 GM2AENSG00000196743Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003172  MD-2-related lipid-recognition domain
 IPR028996  Ganglioside GM2 activator
 IPR036846  GM2-AP, lipid-recognition domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001573 ganglioside metabolic process IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006665 sphingolipid metabolic process IEA
 biological_processGO:0006689 ganglioside catabolic process IMP
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0007611 learning or memory IMP
 biological_processGO:0009313 oligosaccharide catabolic process IMP
 biological_processGO:0019915 lipid storage IMP
 biological_processGO:0050877 nervous system process IMP
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0051345 positive regulation of hydrolase activity IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005889 potassium:proton exchanging ATPase complex IEA
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IEA
 cellular_componentGO:0045179 apical cortex IEA
 molecular_functionGO:0004563 beta-N-acetylhexosaminidase activity IMP
 molecular_functionGO:0005319 lipid transporter activity IEA
 molecular_functionGO:0008047 enzyme activator activity IDA
 molecular_functionGO:0016004 phospholipase activator activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0032428 beta-N-acetylgalactosaminidase activity IEA


Pathways (from Reactome)
Pathway description
Glycosphingolipid metabolism
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000818 abnormal amygdala morphology "any malformation or absence of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses" [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: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000837 abnormal hypothalamus morphology "any malformation or absence of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004000 impaired passive avoidance behavior "decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004097 abnormal cerebellar cortex morphology "any structural anomaly of the thin mantle of gray matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004098 abnormal granule neuron "any structural anomaly of the small neurons of the granule cell layer that send parallel fibers to the upper molecular layer, where they synapse with Purkinje cell dendrites" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004166 abnormal limbic system morphology "any malformation or absence of any of a collection of structures in the brain involved in emotion, motivation and emotional aspects of memory; these structures act together to control the endocrine system and the autonomic nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005267 abnormal olfactory cortex morphology "anomalous structure of piriform cortex, part of the olfactory tract, which receives its major afferents from the olfactory bulb, and is primarily responsible for the identification of odors" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83884]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0006300 abnormal entorhinal cortex morphology "any structural anomaly of the structure in the anterior parahippocampus that lies forward of the parahippocampal cortex and immediately medial to the perirhinal cortex, bounded superiorly by the hippocampus and inferiorly by the collateral sulcus" [brs:Beverly Richards-Smith_IMSR Curator]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0009969 abnormal cerebral cortex pyramidal cell morphology "any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Grm1tm1Stl/Grm1tm1Stl
Genetic Background: involves: 129S2/SvPas * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021665 Hexb / P20060 / Beta-hexosaminidase subunit beta / P07686* / hexosaminidase subunit beta*  / reaction
 ENSMUSG00000025232 Hexa / P29416 / Beta-hexosaminidase subunit alpha / P06865* / AC009690.1* / hexosaminidase subunit alpha*  / reaction






 

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