ENSG00000169891


Homo sapiens

Features
Gene ID: ENSG00000169891
  
Biological name :REPS2
  
Synonyms : Q8NFH8 / RALBP1 associated Eps domain containing 2 / REPS2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p22.2
Gene start: 16946691
Gene end: 17153280
  
Corresponding Affymetrix probe sets: 205645_at (Human Genome U133 Plus 2.0 Array)   227425_at (Human Genome U133 Plus 2.0 Array)   242571_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000306033
Ensembl peptide - ENSP00000349824
NCBI entrez gene - 9185     See in Manteia.
OMIM - 300317
RefSeq - XM_017029958
RefSeq - NM_001080975
RefSeq - NM_004726
RefSeq - XM_017029955
RefSeq - XM_017029956
RefSeq - XM_017029957
RefSeq - XM_005274625
RefSeq - XM_005274626
RefSeq - XM_011545603
RefSeq - XM_011545604
RefSeq - XM_011545605
RefSeq - XM_011545606
RefSeq - XM_011545607
RefSeq - XM_011545609
RefSeq Peptide - NP_004717
RefSeq Peptide - NP_001074444
swissprot - Q8NFH8
Ensembl - ENSG00000169891
  
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
 LO017845.1ENSDARG00000115013Danio rerio
 reps2ENSDARG00000076768Danio rerio
 REPS2ENSGALG00000016545Gallus gallus
 Reps2ENSMUSG00000040855Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
REPS1 / Q96D71 / RALBP1 associated Eps domain containing 1ENSG0000013559741
EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15ENSG0000008583220
Q9UBC2 / EPS15L1 / epidermal growth factor receptor pathway substrate 15 like 1ENSG0000012752720
ITSN2 / Q9NZM3 / intersectin 2ENSG0000019839918
ITSN1 / Q15811 / intersectin 1ENSG0000020572617
EHD2 / Q9NZN4 / EH domain containing 2ENSG000000244228
EHD3 / Q9NZN3 / EH domain containing 3ENSG000000130168
EHD1 / Q9H4M9 / EH domain containing 1ENSG000001100477
EHD4 / Q9H223 / EH domain containing 4ENSG000001039667
SRL / Q86TD4 / sarcalumeninENSG000001857395


Protein motifs (from Interpro)
Interpro ID Name
 IPR000261  EH domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007173 epidermal growth factor receptor signaling pathway TAS
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:0065003 protein-containing complex assembly TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0005509 calcium ion binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000138798 EGF / P01133 / epidermal growth factor  / complex
 ENSG00000110395 CBL / P22681 / Cbl proto-oncogene  / complex
 ENSG00000072134 EPN2 / O95208 / epsin 2  / complex / reaction
 ENSG00000063245 EPN1 / Q9Y6I3 / epsin 1  / reaction / complex
 ENSG00000085832 EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15  / complex / reaction
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex






 

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