| Gene Information | |
|---|---|
| Gene Name | WHRN |
| Organism | Homo sapiens (Human) |
| Gene Length | 907 |
| Protein Names | Whirlin (Autosomal recessive deafness type 31 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000095397 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | Q9P202 |
| Gene Card | WHRN |
| Uniprot ID | Q9P202 |
| Pfam | PF00595 |
| In ASD | no |
| Allosteric Prediction | no (-0.733315236) |
| Ortholog in Animals | Alpaca_ WHRN ( ortholog_one2one ) Dog_ WHRN ( ortholog_one2one ) GuineaPig_ WHRN ( ortholog_one2one ) Macaque_ WHRN ( ortholog_one2one ) Mouse_ Whrn ( ortholog_one2one ) Pig_ WHRN ( ortholog_one2one ) Rat_ Whrn ( ortholog_one2one ) Rabbit_ WHRN ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | USH1C, PDZD7 |
| Tissue | NA |
| Tissue Specificity | NA |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002990(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1UEZ (NMR - ) 1UF1 (NMR - ) 1UFX (NMR - ) 6KZ1 (X-ray 1.69A ) 7EP7 (X-ray 2.60A ) |
| DBSNP | rs10817610 rs35003670 rs4978584 rs11539662 rs12339210 rs942519 rs6478078 rs2274159 rs2274158 rs143728180 |
| Subcellular location [CC] | Cytoplasm {ECO:0000250|UniProtKB:Q80VW5}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q80VW5}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q80VW5}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q80VW5}. Synapse {ECO:0000250|UniProtKB:Q810W9}. Note=Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Localizes to both tip and ankle-link stereocilia regions. Colocalizes with the growing ends of actin filaments. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex. {ECO:0000250|UniProtKB:Q80VW5, ECO:0000250|UniProtKB:Q810W9, ECO:0000269|PubMed:17584769}. |
| Mouse PG classification | NA |
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