ENSG00000251569


Homo sapiens

Features
Gene ID: ENSG00000251569
  
Biological name :AC093899.2
  
Synonyms : AC093899.2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q31.1
Gene start: 169479480
Gene end: 169525922
  
Corresponding Affymetrix probe sets: 230697_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000424363
swissprot - E9PBE3
Ensembl - ENSG00000251569
  
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bbs5ENSDARG00000039827Danio rerio
 BBS5ENSGALG00000009846Gallus gallus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
BBS5 / Q8N3I7 / Bardet-Biedl syndrome 5ENSG0000016309359


Protein motifs (from Interpro)
Interpro ID Name
 IPR006606  Bardet-Biedl syndrome 5 protein
 IPR006652  Kelch repeat type 1
 IPR011993  PH-like domain superfamily
 IPR014003  DM16 repeat
 IPR015915  Kelch-type beta propeller


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0046907 intracellular transport IBA
 biological_processGO:0060271 cilium assembly IBA
 cellular_componentGO:0034464 BBSome IBA
 cellular_componentGO:0036064 ciliary basal body IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0032266 phosphatidylinositol-3-phosphate binding IBA


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
No match






 

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© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr