ENSG00000198087


Homo sapiens

Features
Gene ID: ENSG00000198087
  
Biological name :CD2AP
  
Synonyms : CD2AP / CD2 associated protein / Q9Y5K6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p12.3
Gene start: 47477789
Gene end: 47627263
  
Corresponding Affymetrix probe sets: 203593_at (Human Genome U133 Plus 2.0 Array)   236257_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000352264
NCBI entrez gene - 23607     See in Manteia.
OMIM - 604241
RefSeq - XM_017010641
RefSeq - NM_012120
RefSeq - XM_005248976
RefSeq - XM_011514449
RefSeq Peptide - NP_036252
swissprot - Q9Y5K6
Ensembl - ENSG00000198087
  
Related genetic diseases (OMIM): 607832 - Glomerulosclerosis, focal segmental, 3, 607832
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
 cd2apENSDARG00000015224Danio rerio
 CD2APENSGALG00000016720Gallus gallus
 Cd2apENSMUSG00000061665Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q96B97 / SH3KBP1 / SH3 domain containing kinase binding protein 1ENSG0000014701037
A4FU49 / SH3D21 / SH3 domain containing 21ENSG0000021419316


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR028445  CD2-associated protein
 IPR035775  CD2-associated protein, first SH3 domain
 IPR035776  CD2-associated protein, second SH3 domain
 IPR035777  CD2-associated protein, third SH3 domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006930 substrate-dependent cell migration, cell extension TAS
 biological_processGO:0007015 actin filament organization IMP
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0016050 vesicle organization IEA
 biological_processGO:0016477 cell migration IEA
 biological_processGO:0032911 negative regulation of transforming growth factor beta1 production IEA
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0048259 regulation of receptor-mediated endocytosis IEA
 biological_processGO:0051058 negative regulation of small GTPase mediated signal transduction IMP
 biological_processGO:0051301 cell division IEA
 biological_processGO:0065003 protein-containing complex assembly TAS
 biological_processGO:0098609 cell-cell adhesion IEA
 biological_processGO:1900182 positive regulation of protein localization to nucleus IEA
 biological_processGO:2000249 regulation of actin cytoskeleton reorganization IEA
 cellular_componentGO:0001726 ruffle IEA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0015629 actin cytoskeleton TAS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030139 endocytic vesicle IEA
 cellular_componentGO:0031252 cell leading edge IEA
 cellular_componentGO:0031941 filamentous actin IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005172 vascular endothelial growth factor receptor binding IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008013 beta-catenin binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0017124 SH3 domain binding IPI
 molecular_functionGO:0045296 cadherin binding IEA


Pathways (from Reactome)
Pathway description
Nephrin family interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
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 HP:0000093 Proteinuria 
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 HP:0000097 Focal segmental glomerulosclerosis 
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000105647 O00459 / PIK3R2 / phosphoinositide-3-kinase regulatory subunit 2  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000161270 NPHS1 / O60500 / NPHS1, nephrin  / complex / reaction
 ENSG00000183853 Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1  / complex / reaction






 

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