ENSG00000115459


Homo sapiens

Features
Gene ID: ENSG00000115459
  
Biological name :ELMOD3
  
Synonyms : ELMOD3 / ELMO domain containing 3 / Q96FG2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p11.2
Gene start: 85354394
Gene end: 85391752
  
Corresponding Affymetrix probe sets: 226286_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000394774
Ensembl peptide - ENSP00000398264
Ensembl peptide - ENSP00000436715
Ensembl peptide - ENSP00000408745
Ensembl peptide - ENSP00000408329
Ensembl peptide - ENSP00000407599
Ensembl peptide - ENSP00000401984
Ensembl peptide - ENSP00000318264
Ensembl peptide - ENSP00000377434
Ensembl peptide - ENSP00000386248
Ensembl peptide - ENSP00000386257
Ensembl peptide - ENSP00000386304
Ensembl peptide - ENSP00000387134
Ensembl peptide - ENSP00000387139
Ensembl peptide - ENSP00000393443
NCBI entrez gene - 84173     See in Manteia.
OMIM - 615427
RefSeq - NM_032213
RefSeq - XM_017005079
RefSeq - XM_017005078
RefSeq - XM_005264598
RefSeq - XM_005264597
RefSeq - XM_005264596
RefSeq - NM_001135021
RefSeq - NM_001135022
RefSeq - NM_001135023
RefSeq - NM_001329792
RefSeq Peptide - NP_001128494
RefSeq Peptide - NP_001128493
RefSeq Peptide - NP_001128495
RefSeq Peptide - NP_001316720
RefSeq Peptide - NP_001316721
RefSeq Peptide - NP_001316722
RefSeq Peptide - NP_115589
swissprot - D6RHZ3
swissprot - Q96FG2
swissprot - E9PI96
swissprot - F8WEC1
swissprot - B8ZZT8
swissprot - D3YTJ5
swissprot - D6R929
Ensembl - ENSG00000115459
  
Related genetic diseases (OMIM): 615429 - ?Deafness, autosomal recessive 88, 615429
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
 elmod3ENSDARG00000074742Danio rerio
 Elmod3ENSMUSG00000056698Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR006816  ELMO domain
 IPR030731  ELMO domain-containing protein 3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060091 kinocilium IEA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000365 Hearing loss 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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