| Type | Description |
|---|---|
| Definition | chloride voltage-gated channel 7 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:45:00 | Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1. | 32749217 |
| 2020-03-14 12:11:00 | p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles. | 31155284 |
| 2020-02-01 13:05:00 | These findings highlighted the vital role of clcn7 in zebrafish craniofacial bone and tooth development and mineralization, revealing novel insights for the causation of osteopetrosis with CLCN7 mutations. | 30867839 |
| 2019-09-14 11:09:00 | Various mutations (R286W, Y746D, Y99C, G793R, E313K, c.22322A>G, P470L and K217X) in the CLCN7 gene were identified in six patients with familial osteopetrosis and one patient with sporadic osteopetrosis. | 30942407 |
| 2019-06-01 10:39:00 | CLCN7 mutation is associated with osteopetrosis. | 30431110 |
| Type | IDs |
|---|---|
| Synonymous | CLC-7, CLC7, OPTA2, OPTB4, PPP1R63 |
| Gene |
UniProtKB-ID:
CLCN7_HUMAN
UniprotKB:
P51798
UniParc:
UPI000004904C,
UPI000022A033
EMBL:
U88844,
AL031600,
AK292136,
AK291404,
Z67743,
AF224741,
AK056551,
AL031705,
BC012737,
AJ001910
Ensembl:
ENSG00000103249
KO:
hsa:1186
|
| Nucleutide sequences |
EMBL-CDS:
CAA05083.1,
AAF34711.1,
BAG51745.1,
AAB48530.1,
CAA91556.1,
BAF84825.1,
BAF84093.1,
AAH12737.1
Ensembl_TRS:
ENST00000448525,
ENST00000382745
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000410907,
ENSP00000372193
RefSeq:
NP_001107803.1,
NP_001278.1,
XP_011520656.1
|
| Others |
UniRef100:
UniRef100_P51798
UniRef90:
UniRef90_P51798
UniRef50:
UniRef50_P51798
UniGene:
Hs.459649
CCDS:
CCDS32361.1,
CCDS45378.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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