| Type | Description |
|---|---|
| Definition | anoctamin 5 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-24 14:06:00 | ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure. | 31395899 |
| 2020-05-30 10:06:00 | Through whole-genome sequencing, the novel mutation c.1067G>T (p.C356F) in ANO5 is responsible for the atypical gnathodiaphyseal dysplasia observed in our patients. GDD should be included in the differential diagnosis for patients with fibro-osseous lesions. | 30554457 |
| 2019-12-07 12:14:00 | A novel missense mutation p.C356W in anoctamin 5 (ANO5) gene was successfully identified as the pathogenic mutation by whole-exome sequencing (WES). | 30996299 |
| 2019-10-12 10:54:00 | ANO5-mediated phospholipid scrambling or ionic currents play an important role in muscle repair. | 30257928 |
| 2019-10-05 11:10:00 | elucidating TMEM16E function | 30672373 |
| Type | IDs |
|---|---|
| Synonymous | GDD1, LGMD2L, LGMDR12, TMEM16E |
| Gene |
UniProtKB-ID:
ANO5_HUMAN
UniprotKB:
Q75V66
UniParc:
UPI000035B19B
EMBL:
AB125267
Ensembl:
ENSG00000171714
KO:
hsa:203859
|
| Nucleutide sequences |
EMBL-CDS:
BAD17859.1
Ensembl_TRS:
ENST00000324559
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000315371
RefSeq:
NP_998764.1,
XP_005252879.1,
NP_001136121.1,
XP_005252878.2,
XP_005252877.2,
XP_011518251.1
|
| Others |
UniRef100:
UniRef100_Q75V66
UniRef90:
UniRef90_Q75V66
UniRef50:
UniRef50_Q6P9J9
UniGene:
Hs.154329
CCDS:
CCDS31444.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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