| Type | Description |
|---|---|
| Definition | whirlin |
| Date | Results | Publications |
|---|---|---|
| 2020-12-12 13:23:00 | Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. | 30831381 |
| 2020-04-04 11:13:00 | whirlin-espin interaction is important for the architecture of the USH2 complex and actin bundles cross-linked by espin. Our demonstration of whirlin N-terminal fragment interaction with espin, is significantly novel, providing insight into how these two proteins interact to form the USH2 complex. | 31638198 |
| 2018-04-14 11:47:00 | two novel mutations in the WHRN and TMC1 genes are responsible for founder effects of hereditary hemochromatosis, Wilson s disease, the long QT syndrome and autosomal recessive deafness in a Swedish pedigree | 29270100 |
| 2017-05-20 14:14:00 | Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. | 28137943 |
| 2014-06-14 10:58:00 | Data indicate that that CIB2 localizes to stereocilia and interacts with the USH proteins myosin VIIa and whirlin, suggesting CIB2 is a Ca2+-buffering protein essential for calcium homeostasis in the mechanosensory stereocilia of inner ear hair cells. | 24022220 |
| Type | IDs |
|---|---|
| Synonymous | CIP98, DFNB31, PDZD7B, USH2D, WI |
| Gene |
UniProtKB-ID:
WHRN_HUMAN,
B9EGE6_HUMAN
UniprotKB:
Q9P202,
B9EGE6
UniParc:
UPI0000470EF0,
UPI000046FD6D,
UPI0000470EEF,
UPI00003519A7,
UPI000192C3F3
EMBL:
KF459656,
AK022854,
AB040959,
AL138895,
BC136416,
KF459658,
AK056190,
CH471090,
BC142684,
AL110228,
BC142614
Ensembl:
ENSG00000095397
KO:
hsa:25861
|
| Nucleutide sequences |
EMBL-CDS:
AAI42615.1,
BAB14275.1,
AAI42685.1,
EAW87423.1,
BAA96050.1,
EAW87422.1,
CAB53685.2,
AAI36417.1
Ensembl_TRS:
ENST00000362057,
ENST00000265134,
ENST00000374057
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000265134,
ENSP00000363170,
ENSP00000354623
RefSeq:
NP_001333819.1,
NP_001166896.1,
XP_011516787.1,
NP_001077354.2,
XP_011516788.1,
XP_011516794.1,
XP_011516796.1,
XP_011516793.1,
XP_011516789.1,
XP_011516791.1,
NP_056219.3,
XP_011516790.1
|
| Others |
UniRef100:
UniRef100_B9EGE6,
UniRef100_Q9P202
UniRef90:
UniRef90_Q9P202
UniRef50:
UniRef50_Q9P202
UniGene:
Hs.93836
CCDS:
CCDS87678.1,
CCDS6806.1,
CCDS43870.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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