| Type | Description |
|---|---|
| Definition | chloride voltage-gated channel 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:32:00 | CUL4-DDB1-CRBN E3 Ubiquitin Ligase Regulates Proteostasis of ClC-2 Chloride Channels: Implication for Aldosteronism and Leukodystrophy. | 32466489 |
| 2020-07-18 12:15:00 | this study shows possible link between loss of ClC-2 function and an increased risk of developing atrial fibrillation | 31996765 |
| 2020-07-18 10:10:00 | Three de novo epilepsy-related gene missense mutations were identified in SCN1A, SCN8A and CLCN2 in childhood absence epilepsy patients. | 31054517 |
| 2019-05-11 12:40:00 | CLCN2 mutations cause primary aldosteronism, this highlight the importance of chloride in aldosterone biosynthesis and CLCN2 as the foremost chloride conductor of resting glomerulosa cells. | 29403012 |
| 2019-05-11 12:40:00 | A role of anion channels in glomerulosa membrane potential determination, aldosterone production and hypertension. The mutations are the cause of a substantial fraction of early-onset primary aldosteronism. | 29403011 |
| Type | IDs |
|---|---|
| Synonymous | CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, HALD2, LKPAT, clC-2 |
| Gene |
UniProtKB-ID:
CLCN2_HUMAN
UniprotKB:
P51788
UniParc:
UPI0000378342,
UPI000192C268,
UPI000198CBD0,
UPI000013D645,
UPI000198CBD1
EMBL:
AC078797,
BC072004,
AK298952,
AF026004,
BC021578,
S77770,
AK302759
Ensembl:
ENSG00000114859
KO:
hsa:1181
|
| Nucleutide sequences |
EMBL-CDS:
AAB88807.1,
AAH21578.1,
BAG61051.1,
AAB34722.2,
AAH72004.1,
BAG63970.1
Ensembl_TRS:
ENST00000344937,
ENST00000434054,
ENST00000457512,
ENST00000265593
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000400425,
ENSP00000345056,
ENSP00000391928,
ENSP00000265593
RefSeq:
NP_001164559.1,
XP_011510703.1,
XP_006713552.1,
NP_001164558.1,
NP_001164560.1,
XP_006713553.1,
NP_004357.3
|
| Others |
UniRef100:
UniRef100_P51788
UniRef90:
UniRef90_P51788
UniRef50:
UniRef50_P51788
UniGene:
Hs.436847
CCDS:
CCDS54691.1,
CCDS54690.1,
CCDS3263.1,
CCDS54692.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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