ENSG00000242866


Homo sapiens

Features
Gene ID: ENSG00000242866
  
Biological name :STRC
  
Synonyms : Q7RTU9 / stereocilin / STRC
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q15.3
Gene start: 43599563
Gene end: 43618800
  
Corresponding Affymetrix probe sets: 1561306_s_at (Human Genome U133 Plus 2.0 Array)   240048_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000407303
Ensembl peptide - ENSP00000401513
Ensembl peptide - ENSP00000415991
Ensembl peptide - ENSP00000440413
Ensembl peptide - ENSP00000394755
Ensembl peptide - ENSP00000394866
NCBI entrez gene - 161497     See in Manteia.
OMIM - 606440
RefSeq - XM_017021962
RefSeq - XM_017021954
RefSeq - XM_017021955
RefSeq - XM_017021956
RefSeq - XM_017021957
RefSeq - XM_017021958
RefSeq - XM_017021959
RefSeq - XM_017021960
RefSeq - NM_153700
RefSeq - XM_011521278
RefSeq Peptide - NP_714544
swissprot - F5GXA4
swissprot - H7C0F7
swissprot - E9PBT5
swissprot - E7EPM8
swissprot - Q7RTU9
swissprot - H7C2Q6
Ensembl - ENSG00000242866
  
Related genetic diseases (OMIM): 603720 - Deafness, autosomal recessive 16, 603720
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
 si:cabz01059983.1ENSDARG00000105391Danio rerio
 StrcENSMUSG00000033498Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
OTOA / Q7RTW8 / otoancorinENSG0000015571912


Protein motifs (from Interpro)
Interpro ID Name
 IPR026061  Stereocilin
 IPR026664  Stereocilin-related


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007160 cell-matrix adhesion IBA
 biological_processGO:0007605 sensory perception of sound IBA
 biological_processGO:0050910 detection of mechanical stimulus involved in sensory perception of sound IEA
 biological_processGO:0060088 auditory receptor cell stereocilium organization IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0032420 stereocilium IEA
 cellular_componentGO:0032426 stereocilium tip IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0060091 kinocilium IBA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 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]
Show

 HP:0000027 Azoospermia 
Show

 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000798 Oligospermia 
Show

 HP:0003251 Male infertility 
Show

 HP:0008619 Hearing loss, sensorineural, bilateral 
Show

 HP:0008669 Impaired spermatogenesis 
Show

 HP:0012207 Reduced sperm motility "An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson]
Show

 HP:0012208 Nonmotile sperm "A lack of mobility of ejaculated sperm." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

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