| Type | Description |
|---|---|
| Definition | anoctamin 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-02 10:46:00 | De-novo genetic variants in childhood-onset, generalized dystonia represent underestimated phenotypic expression changes in ANO3. | 30712998 |
| 2018-03-03 11:25:00 | Study reports a novel c.1969G>A mutation in the ANO3 gene in a family presenting with a typical dystonia phenotype consistent with previous reports: onset mainly after the fourth decade, begins as cervical dystonia, but evolves to segmental dystonia, without leg involvement or any generalized dystonia. | 27392807 |
| 2017-08-26 12:30:00 | This study demonstrated that whole-exome sequencing show reveled ANO3 mutation with early-onset generalized dystonia. | 27666935 |
| 2017-01-14 11:11:00 | HTRA2 and ANO3 mutations are not common causes of essential tremor | 27881096 |
| 2016-01-02 12:03:00 | This study demonstrated that Mutations in ANO3 may cause Dystonia. | 25847575 |
| Type | IDs |
|---|---|
| Synonymous | C11orf25, DYT23, DYT24, GENX-3947, TMEM16C |
| Gene |
UniProtKB-ID:
ANO3_HUMAN,
A0A5F9ZHL6_HUMAN,
B7Z9B9_HUMAN
UniprotKB:
Q9BYT9,
A0A5F9ZHL6,
B7Z9B9
UniParc:
UPI00019153E7,
UPI00004DC83D,
UPI00001F9ED8,
UPI000387B6AD
EMBL:
AJ300461,
AC036114,
AC021698,
AK304781,
KF455342,
AC079064,
AC083755,
AC099687,
AK295816
Ensembl:
ENSG00000134343
KO:
hsa:63982
|
| Nucleutide sequences |
EMBL-CDS:
CAC32454.1,
BAH12191.1,
BAH14255.1
Gene_ORFName:
GENX-3947
Ensembl_TRS:
ENST00000256737,
ENST00000531568,
ENST00000672621
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000256737,
ENSP00000432394,
ENSP00000500506
RefSeq:
XP_016873607.1,
NP_001300656.1,
NP_001300655.1,
XP_011518584.1,
XP_016873608.1,
NP_113606.2
|
| Others |
UniRef100:
UniRef100_A0A5F9ZHL6,
UniRef100_B7Z9B9,
UniRef100_Q9BYT9
UniRef90:
UniRef90_A0A2I3SMX8,
UniRef90_Q9BYT9
UniRef50:
UniRef50_Q9BYT9
UniGene:
Hs.91791
CCDS:
CCDS31447.1,
CCDS81557.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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