ENSG00000187017


Homo sapiens

Features
Gene ID: ENSG00000187017
  
Biological name :ESPN
  
Synonyms : B1AK53 / espin / ESPN
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.31
Gene start: 6424776
Gene end: 6461367
  
Corresponding Affymetrix probe sets: 219422_at (Human Genome U133 Plus 2.0 Array)   223549_s_at (Human Genome U133 Plus 2.0 Array)   233979_s_at (Human Genome U133 Plus 2.0 Array)   234281_at (Human Genome U133 Plus 2.0 Array)   242327_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000487748
Ensembl peptide - ENSP00000488071
Ensembl peptide - ENSP00000496593
Ensembl peptide - ENSP00000496370
Ensembl peptide - ENSP00000495669
Ensembl peptide - ENSP00000495145
Ensembl peptide - ENSP00000490230
Ensembl peptide - ENSP00000490186
Ensembl peptide - ENSP00000488721
Ensembl peptide - ENSP00000367059
Ensembl peptide - ENSP00000399239
Ensembl peptide - ENSP00000401793
Ensembl peptide - ENSP00000413621
Ensembl peptide - ENSP00000465308
Ensembl peptide - ENSP00000466437
NCBI entrez gene - 83715     See in Manteia.
OMIM - 606351
RefSeq - XM_017002434
RefSeq - NM_031475
RefSeq - XM_005263501
RefSeq - XM_011542231
RefSeq - XM_011542232
RefSeq - XM_011542233
RefSeq - XM_011542238
RefSeq - XM_017002433
RefSeq Peptide - NP_113663
swissprot - B1AK53
swissprot - Q5JYL1
swissprot - A0A1B0GUS9
swissprot - A0A1B0GUN9
swissprot - A0A0J9YY76
swissprot - A0A0J9YWQ8
swissprot - A0A0J9YW00
swissprot - A0A0A0MSQ4
swissprot - K7EMB7
swissprot - H0Y7L4
Ensembl - ENSG00000187017
  
Related genetic diseases (OMIM): 606351 - Deafness, neurosensory, without vestibular involvement, autosomal dominant
  609006 - Deafness, autosomal recessive 36, 609006
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
 espnENSDARG00000076414Danio rerio
 ENSGALG00000038532Gallus gallus
 EspnENSMUSG00000028943Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ESPNL / Q6ZVH7 / espin likeENSG0000014448831
Q8N9B4 / ANKRD42 / ankyrin repeat domain 42ENSG0000013749413
Q6P6B7 / ANKRD16 / ankyrin repeat domain 16ENSG0000013446112


Protein motifs (from Interpro)
Interpro ID Name
 IPR002110  Ankyrin repeat
 IPR003124  WH2 domain
 IPR020683  Ankyrin repeat-containing domain
 IPR030233  Espin
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0007626 locomotory behavior IMP
 biological_processGO:0030046 parallel actin filament bundle assembly IDA
 biological_processGO:0051017 actin filament bundle assembly IEA
 biological_processGO:0051491 positive regulation of filopodium assembly IGI
 biological_processGO:0051494 negative regulation of cytoskeleton organization IDA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005902 microvillus IEA
 cellular_componentGO:0005903 brush border ISS
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0031941 filamentous actin IBA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0032421 stereocilium bundle IDA
 cellular_componentGO:0032426 stereocilium tip ISS
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017124 SH3 domain binding ISS
 molecular_functionGO:0051015 actin filament binding IEA


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:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0008568 Vestibular areflexia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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