ENSG00000130396


Homo sapiens

Features
Gene ID: ENSG00000130396
  
Biological name :AFDN
  
Synonyms : afadin, adherens junction formation factor / AFDN / P55196
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q27
Gene start: 167826922
Gene end: 167972023
  
Corresponding Affymetrix probe sets: 208512_s_at (Human Genome U133 Plus 2.0 Array)   214939_x_at (Human Genome U133 Plus 2.0 Array)   215904_at (Human Genome U133 Plus 2.0 Array)   224685_at (Human Genome U133 Plus 2.0 Array)   229775_s_at (Human Genome U133 Plus 2.0 Array)   230622_at (Human Genome U133 Plus 2.0 Array)   238871_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000423035
Ensembl peptide - ENSP00000422166
Ensembl peptide - ENSP00000424188
Ensembl peptide - ENSP00000426462
Ensembl peptide - ENSP00000252692
Ensembl peptide - ENSP00000341118
Ensembl peptide - ENSP00000355771
Ensembl peptide - ENSP00000375956
Ensembl peptide - ENSP00000375960
Ensembl peptide - ENSP00000383623
Ensembl peptide - ENSP00000383625
Ensembl peptide - ENSP00000383626
Ensembl peptide - ENSP00000404595
Ensembl peptide - ENSP00000414675
Ensembl peptide - ENSP00000421441
NCBI entrez gene - 4301     See in Manteia.
OMIM - 159559
RefSeq - XM_017010887
RefSeq - NM_001291964
RefSeq - XM_005266996
RefSeq - XM_005266997
RefSeq - XM_006715491
RefSeq - XM_006715494
RefSeq - XM_011535842
RefSeq - XM_017010878
RefSeq - XM_017010879
RefSeq - XM_017010880
RefSeq - XM_017010881
RefSeq - XM_017010882
RefSeq - XM_017010883
RefSeq - XM_017010884
RefSeq - XM_017010885
RefSeq - XM_017010886
RefSeq - NM_001040000
RefSeq - NM_001207008
RefSeq Peptide - NP_001035089
RefSeq Peptide - NP_001193937
RefSeq Peptide - NP_001278893
swissprot - H0Y8L4
swissprot - H0Y8U8
swissprot - H0Y948
swissprot - H0Y9I0
swissprot - E9PFY5
swissprot - J3KN01
swissprot - P55196
swissprot - Q5TIG5
swissprot - A8MQ02
swissprot - H0YA98
swissprot - F8W9I4
swissprot - H0Y7R8
Ensembl - ENSG00000130396
  
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
 afdnaENSDARG00000029472Danio rerio
 AFDNENSGALG00000011329Gallus gallus
 AfdnENSMUSG00000068036Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9ULJ8 / PPP1R9A / protein phosphatase 1 regulatory subunit 9AENSG0000015852813
PPP1R9B / protein phosphatase 1 regulatory subunit 9BENSG000001088199
Q8IZD0 / SAMD14 / sterile alpha motif domain containing 14ENSG000001671005


Protein motifs (from Interpro)
Interpro ID Name
 IPR000159  Ras-associating (RA) domain
 IPR000253  Forkhead-associated (FHA) domain
 IPR001478  PDZ domain
 IPR002710  Dilute domain
 IPR008984  SMAD/FHA domain superfamily
 IPR028842  Afadin
 IPR029071  Ubiquitin-like domain superfamily
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007267 cell-cell signaling TAS
 biological_processGO:0021537 telencephalon development IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0032880 regulation of protein localization IBA
 biological_processGO:0034332 adherens junction organization IBA
 biological_processGO:0034334 adherens junction maintenance IEA
 biological_processGO:0043547 positive regulation of GTPase activity IMP
 biological_processGO:0048854 brain morphogenesis IEA
 biological_processGO:0048872 homeostasis of number of cells IEA
 biological_processGO:0060019 radial glial cell differentiation IEA
 biological_processGO:0060563 neuroepithelial cell differentiation IEA
 biological_processGO:0070445 regulation of oligodendrocyte progenitor proliferation IEA
 biological_processGO:0090557 establishment of endothelial intestinal barrier IMP
 biological_processGO:1902414 protein localization to cell junction IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0005913 cell-cell adherens junction IEA
 cellular_componentGO:0016607 nuclear speck IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0043296 apical junction complex IEA
 cellular_componentGO:0045177 apical part of cell IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008022 protein C-terminus binding TAS
 molecular_functionGO:0017016 Ras GTPase binding IDA
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0050839 cell adhesion molecule binding IEA


Pathways (from Reactome)
Pathway description
No match


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000130202 Q92692 / NECTIN2 / nectin cell adhesion molecule 2  / complex / reaction
 ENSG00000110400 Q15223 / NECTIN1 / nectin cell adhesion molecule 1  / reaction / complex
 ENSG00000143217 Q96NY8 / NECTIN4 / nectin cell adhesion molecule 4  / complex / reaction
 ENSG00000177707 Q9NQS3 / NECTIN3 / nectin cell adhesion molecule 3  / reaction / complex
 ENSG00000184009 ACTG1 / P63261 / actin gamma 1  / reaction / complex
 ENSG00000075624 ACTB / P60709 / actin beta  / reaction / complex






 

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