| Type | Description |
|---|---|
| Definition | chloride voltage-gated channel 4 |
| Date | Results | Publications |
|---|---|---|
| 2019-02-16 10:39:00 | We report 10 additional families with nine novel CLCN4 variants, extend the molecular spectrum to include splice site variants and single-exon deletions, suggest genotype-phenotype correlation, and present detailed clinical phenotypic information about CLCN4-related disorder in 29 hemizygous males and 23 heterozygous females from 16 families. | 27550844 |
| 2018-11-03 10:38:00 | Unique oligomerization properties of ClC-4 permit regulated targeting of ClC-4 to various endosomal compartment systems via expression of different ClC-3 splice variants. | 28972156 |
| 2013-09-07 11:56:00 | This study performed whole exome sequencing demonistrated that the true de novo variants represent mutations in genes (KCNH5, CLCN4, and ARHGEF15) not previously associated with epilepsies in humans. | 23647072 |
| 2011-06-04 10:29:00 | the voltage dependence of uncoupled ClC-4 by protons and anions | 21354396 |
| 2010-03-29 11:50:00 | CLCN4 is a novel driver of colon cancer progression. | 20087350 |
| Type | IDs |
|---|---|
| Synonymous | CLC4, ClC-4, ClC-4A, MRX15, MRX49, MRXSRC |
| Gene |
UniProtKB-ID:
CLCN4_HUMAN
UniprotKB:
P51793
UniParc:
UPI0000127A99,
UPI000004E548
EMBL:
AC121345,
X77197,
AC003666,
AK289564,
AK299611,
AF170492,
CH471074,
AB019432,
BC130278
Ensembl:
ENSG00000073464
KO:
hsa:1183
|
| Nucleutide sequences |
EMBL-CDS:
AAI30279.1,
EAW98778.1,
BAF82253.1,
BAH13080.1,
CAA54417.1,
AAD50981.1,
BAA77327.1
Ensembl_TRS:
ENST00000380833,
ENST00000421085
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000405754,
ENSP00000370213
RefSeq:
NP_001243873.1,
NP_001821.2
|
| Others |
UniRef100:
UniRef100_P51793
UniRef90:
UniRef90_P51793
UniRef50:
UniRef50_P51791
UniGene:
Hs.495674
CCDS:
CCDS59159.1,
CCDS14137.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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