| URN | urn:agi-llid:8016 |
|---|---|
| Total Entities | 0 |
| Connectivity | 41 |
| Name | Dfnb31 |
| Description | deafness, autosomal recessive 31 |
| Notes | This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010] |
| Ariadne Ontology | Actomyosin based movement |
|---|---|
| Actin-based cytoskeleton assembly |
| GO Molecular Function | protein domain specific binding |
|---|
| GO Cellular Component | membrane |
|---|---|
| synapse | |
| stereocilium | |
| actin filament | |
| stereocilia ankle link complex | |
| cell projection | |
| photoreceptor inner segment | |
| cytoplasm | |
| stereocilium bundle | |
| growth cone | |
| dendritic shaft | |
| cilium | |
| photoreceptor connecting cilium | |
| axon | |
| dendrite | |
| neuronal cell body |
| GO Biological Process | inner ear receptor stereocilium organization |
|---|---|
| sensory perception of light stimulus | |
| sensory perception of sound | |
| retina homeostasis |
| Pathway | auditory mechanotransduction pathway |
|---|
| Group | Actomyosin based movement |
|---|---|
| Actin-based cytoskeleton assembly | |
| inner ear receptor stereocilium organization | |
| sensory perception of light stimulus | |
| sensory perception of sound | |
| retina homeostasis | |
| protein domain specific binding | |
| membrane | |
| synapse | |
| stereocilium | |
| actin filament | |
| stereocilia ankle link complex | |
| cell projection | |
| photoreceptor inner segment | |
| cytoplasm | |
| stereocilium bundle | |
| growth cone | |
| dendritic shaft | |
| cilium | |
| photoreceptor connecting cilium | |
| axon | |
| dendrite | |
| neuronal cell body |
| MedScan ID | 8016 |
|---|
| Hugo ID | 16361 |
|---|
| Human chromosome position | 9q32 |
|---|
| LocusLink ID | 8016 |
|---|---|
| 25861 | |
| 73750 | |
| 313255 |
| Alias | WI |
|---|---|
| WHRN | |
| CIP98 | |
| USH2D | |
| RP11-9M16.1 | |
| whirlin | |
| CASK-interacting protein CIP98 | |
| autosomal recessive deafness type 31 protein | |
| AW122018 | |
| AW742671 | |
| bM340H1.8 | |
| mKIAA1526 | |
| whirlinNT1 | |
| whirlinNT2 | |
| 1110035G07Rik | |
| C430046P22Rik | |
| RP23-340H1.8 | |
| whirler | |
| Kiaa1526 | |
| whirlins | |
| OTTMUSP00000000317 | |
| OTTMUSP00000000316 | |
| OTTMUSP00000019121 | |
| OTTHUMP00000021978 | |
| OTTMUSP00000019122 | |
| OTTMUSP00000037186 | |
| USH2D gene | |
| Whirler deafness, human homolog of | |
| OTTHUMP00000021976 | |
| whirlers | |
| 1110035G07 | |
| deafness, autosomal recessive 31 | |
| DFNB31 | |
| DKFZP434N014 | |
| DKFZp434N014.1 | |
| homolog of Whirler deafness | |
| MGC183668 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 607928 |
|---|---|
| 607084 | |
| 611383 |
| Unigene ID | Hs.93836 |
|---|---|
| Mm.300397 | |
| Rn.231801 |
| KEGG ID | hsa:25861 |
|---|---|
| mmu:73750 | |
| rno:313255 |
| Swiss-Prot Accession | B9EGE6 |
|---|---|
| Q9P202 | |
| Q80VW5 | |
| J3JSA5 | |
| I7HJT2 | |
| I7HII7 | |
| Q810W9 | |
| A2AGD2 | |
| Q3TZC8 | |
| Q5MLF1 | |
| Q5MLF2 | |
| Q5MLF3 | |
| Q5MLF4 | |
| Q5MLF5 | |
| Q5MLF6 | |
| Q5MLF7 | |
| Q5MLF8 | |
| Q5MLF9 | |
| Q80TC2 | |
| Q80VW4 | |
| A5PKU1 | |
| A5PKZ9 | |
| Q5TAU9 | |
| Q5TAV0 | |
| Q5TAV1 | |
| Q5TAV2 | |
| Q96MZ9 | |
| Q9H9F4 | |
| Q9UFZ3 |
| GO ID | 0019904 |
|---|---|
| 0060122 | |
| 0001895 | |
| 0050953 | |
| 0007605 | |
| 0005884 | |
| 0030424 | |
| 0005737 | |
| 0043198 | |
| 0030426 | |
| 0043025 | |
| 0032391 | |
| 0001917 | |
| 0002142 | |
| 0032420 | |
| 0045202 | |
| 0042995 | |
| 0005929 | |
| 0030425 | |
| 0016020 | |
| 0032421 |
| PIR ID | T14765 |
|---|
| Swiss-Prot ID | WHRN_MOUSE |
|---|---|
| WHRN_RAT | |
| WHRN_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| Cell projection | |
| stereocilium | |
| growth cone |
| IPI ID | IPI00330536 |
|---|---|
| IPI00474346 | |
| IPI00551081 | |
| IPI00551196 | |
| IPI00551262 | |
| IPI00551322 | |
| IPI00551333 | |
| IPI00551381 | |
| IPI00551441 | |
| IPI00775934 | |
| IPI00327507 | |
| IPI00292748 | |
| IPI00335260 | |
| IPI00382416 | |
| IPI00386465 |
| Mouse chromosome position | 4 31.4 cM |
|---|
| Rat chromosome position | 5q24 |
|---|
| Homologene ID | 18739 |
|---|
| MGI ID | 2682003 |
|---|
| RGD ID | 631330 |
|---|
| Primary Cell Localization | Cytoplasm |
|---|