ENSG00000103942


Homo sapiens

Features
Gene ID: ENSG00000103942
  
Biological name :HOMER2
  
Synonyms : HOMER2 / homer scaffolding protein 2 / Q9NSB8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q25.2
Gene start: 82836946
Gene end: 82986153
  
Corresponding Affymetrix probe sets: 1556097_at (Human Genome U133 Plus 2.0 Array)   217080_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000305632
Ensembl peptide - ENSP00000407634
Ensembl peptide - ENSP00000452870
Ensembl peptide - ENSP00000454125
NCBI entrez gene - 9455     See in Manteia.
OMIM - 604799
RefSeq - XM_011522234
RefSeq - NM_004839
RefSeq - NM_199330
RefSeq - XM_006720776
RefSeq - XM_011522231
RefSeq - XM_011522232
RefSeq - XM_011522233
RefSeq - XM_005272448
RefSeq - XM_005272449
RefSeq - XM_006720775
RefSeq Peptide - NP_004830
RefSeq Peptide - NP_955362
swissprot - Q9NSB8
swissprot - H0YNR9
Ensembl - ENSG00000103942
  
Related genetic diseases (OMIM): 616707 - ?Deafness, autosomal dominant 68, 616707
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 homer2ENSDARG00000059349Danio rerio
 HOMER2ENSGALG00000006008Gallus gallus
 Homer2ENSMUSG00000025813Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HOMER1 / Q86YM7 / homer scaffolding protein 1ENSG0000015241352
HOMER3 / Q9NSC5 / homer scaffolding protein 3ENSG0000005112845


Protein motifs (from Interpro)
Interpro ID Name
 IPR000697  WH1/EVH1 domain
 IPR011993  PH-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007216 G-protein coupled glutamate receptor signaling pathway TAS
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0008277 regulation of G-protein coupled receptor protein signaling pathway IEA
 biological_processGO:0035584 calcium-mediated signaling using intracellular calcium source IEA
 biological_processGO:0048148 behavioral response to cocaine IEA
 biological_processGO:0048875 chemical homeostasis within a tissue IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0032426 stereocilium tip IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0045177 apical part of cell IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0030160 GKAP/Homer scaffold activity IEA
 molecular_functionGO:0035254 glutamate receptor binding IEA
 molecular_functionGO:0035256 G-protein coupled glutamate receptor binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
Neurexins and neuroligins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / complex / reaction
 ENSG00000051128 HOMER3 / Q9NSC5 / homer scaffolding protein 3  / complex / reaction
 ENSG00000116544 DLGAP3 / O95886 / DLG associated protein 3  / reaction / complex
 ENSG00000152822 GRM1 / Q13255 / glutamate metabotropic receptor 1  / reaction / complex
 ENSG00000168959 GRM5 / P41594 / glutamate metabotropic receptor 5  / reaction / complex
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / complex / reaction
 ENSG00000161681 Q9Y566 / SHANK1 / SH3 and multiple ankyrin repeat domains 1  / complex / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / reaction / complex
 ENSG00000152413 HOMER1 / Q86YM7 / homer scaffolding protein 1  / reaction / complex
 ENSG00000103942 HOMER2 / Q9NSB8 / homer scaffolding protein 2  / complex / reaction
 ENSG00000170579 DLGAP1 / O14490 / DLG associated protein 1  / complex / reaction
 ENSG00000080845 DLGAP4 / Q9Y2H0 / DLG associated protein 4  / complex / reaction
 ENSG00000162105 Q9UPX8 / SHANK2 / SH3 and multiple ankyrin repeat domains 2  / complex / reaction
 ENSG00000198010 DLGAP2 / Q9P1A6 / DLG associated protein 2  / reaction / complex






 

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