| Gene Symbol |
DFNB31
|
| Entrez Gene |
25861
|
| Alt Symbol |
CIP98, PDZD7B, USH2D, WHRN, WI
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
deafness, autosomal recessive 31
|
| Other Description |
CASK-interacting protein CIP98|autosomal recessive deafness type 31 protein|whirlin
|
| Swissprots |
Q5TAV2 Q9UFZ3 Q5TAU9 Q9P202 Q96MZ9 A5PKU1 Q9H9F4 Q5TAV1 A5PKZ9 Q5TAV0
|
| Accessions |
EAW87420 EAW87421 EAW87422 EAW87423 Q9P202 AB040959 BAA96050 AK022854 BAB14275 AK056190 AL110228 CAB53685 AL557526 BC011918 BC014524 BC136416 AAI36417 BC142614 AAI42615 BC142684 AAI42685 BF969269 BX329269 DA502065 XM_005251897 XP_005251954 XM_011518484 XP_011516786 XM_011518485 XP_011516787 XM_011518486 XP_011516788 XM_011518487 XP_011516789 XM_011518488 XP_011516790 XM_011518489 XP_011516791 XM_011518490 XP_011516792 XM_011518491 XP_011516793 XM_011518492 XP_011516794 XM_011518493 XP_011516795 XM_011518494 XP_011516796 XM_011518495 XP_011516797 XR_929747 XR_929748 XR_929749 XR_929750 XR_929751 XR_929752 XR_929753 XR_929754 XR_929755 XR_929756 XR_929757 NM_001083885 NP_001077354 NM_001173425 NP_001166896 NM_015404 NP_056219
|
| Function |
Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. {ECO:0000250}.
|
| Subcellular Location |
Cytoplasm {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Note=Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Colocalizes with the growing ends of actin filaments (By similarity). Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). {ECO:0000250, ECO:0000269|PubMed:17584769}.
|