| Type | Description |
|---|---|
| Definition | solute carrier family 12 member 3 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:34:00 | [Identification of pathological variants of SLC12A3 gene in a pedigree affected with Gitelman syndrome]. | 33306824 |
| 2020-10-24 14:07:00 | Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review. | 31660880 |
| 2020-08-12 14:47:00 | However, diagnosis of hyperglycemia in GS patients has not been thoroughly investigated, and family studies on SLC12A3 mutations and glucose metabolism are rare. Whether treatment including potassium and magnesium supplements, and spironolactone can ameliorate impaired glucose tolerance in GS patients, also needs to be investigated. | 32702863 |
| 2020-05-02 10:29:00 | Heterozygous carriers of SLC12A3 have a weak intermediate phenotype, between that of healthy noncarriers and patients with Gitelman syndrome | 31285285 |
| 2020-01-25 13:14:00 | The SLC12A3 gene analysis in Chinese GS patients revealed that the most common mutation was Thr60Met, one of the missense mutations. Most of the patients were in the complete compliance group (i.e., 2 allelic mutations); the other cases might be explained by gene rearrangement. | 31398183 |
| Type | IDs |
|---|---|
| Synonymous | NCC, NCCT, TSC |
| Gene |
UniProtKB-ID:
S12A3_HUMAN,
J3QSS1_HUMAN
UniprotKB:
P55017,
J3QSS1
UniParc:
UPI00001FF247,
UPI00001FF243,
UPI00005782C2,
UPI0001AE6793
EMBL:
AC012181,
U44128,
AK315298,
X91220
Ensembl:
ENSG00000070915
KO:
hsa:6559
|
| Nucleutide sequences |
EMBL-CDS:
AAC50355.1,
CAA62613.1
Ensembl_TRS:
ENST00000438926,
ENST00000563236,
ENST00000566786,
ENST00000262502
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000456149,
ENSP00000457552,
ENSP00000402152,
ENSP00000262502
RefSeq:
XP_005256176.1,
NP_001119580.2,
NP_001119579.2,
NP_000330.3
|
| Others |
UniRef100:
UniRef100_J3QSS1,
UniRef100_P55017
UniRef90:
UniRef90_H2NQZ3,
UniRef90_P55017
UniRef50:
UniRef50_F6UKR7,
UniRef50_P55017
UniGene:
Hs.669115
CCDS:
CCDS58464.1,
CCDS10770.1,
CCDS45491.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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