SLCtables

SLC12A3

Protein name: NCC Aliases: N/D Substrates: Na+, Cl- Transport type: N/D Tissue and cellular expression: kidney, bone Subcellular expression: N/D Disease: Gitelman syndrome Locus: 16q13 Sequence ID: NP_000330.2, NM_000339.2 NP_001119579.1, NM_001126107.1 NP_001119580.1, NM_001126108.1 Gene ID: 6559 Splice variants: N/D

S12A3_HUMAN (UniProt)

Gene names: SLC12A3, TSC
Protein names and data: S12A3_HUMAN, Full=Solute carrier family 12 member 3, Full=Na-Cl cotransporter;Short=NCC;Full=Na-Cl symporter;Full=Thiazide-sensitive sodium-chloride cotransporter; Length: 1021 a.a., Mass: 113139 Da,
fasta formatted sequence
Function: Key mediator of sodium and chloride reabsorption in this nephron segment, accounting for a significant fraction of renal sodium reabsorption
Disease: (OMIM: 263800 600968) Defects in SLC12A3 are the cause of Gitelman syndrome (GS) [MIM:263800]. GS is an autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. GS has overlapping features with Bartter syndrome
Cellular location: Cell membrane; Multi-pass membrane protein
Tissue specificity: Predominant in kidney

Database cross-references

UniProt: P55017
NextBio: 25523
OMIM: 263800 600968
Ensembl: ENST00000566786
GeneCard: GC16P056899
TCDB: 2.A.30.4.2
PharmGenUCSF: SLC12A3
Guide to Pharmacology: SLC12A3 (970)
SLC12 family of cation-coupled chloride transporters (970)
HGNC: HGNC:10912

Genetic variants

See also Ensembl:ENST00000566786

60 - 60 T -> M (in GS). VAR_039475
62 - 62 D -> N (in GS). VAR_039476
68 - 68 E -> K (in GS). VAR_039477
69 - 69 H -> N (in GS). VAR_039478
90 - 90 H -> Y (in GS). VAR_039479
145 - 145 R -> H (in GS). VAR_039480
153 - 153 V -> M (in GS). VAR_039481
154 - 154 I -> F (in GS). VAR_039482
158 - 158 R -> Q (in GS). VAR_039483
163 - 163 T -> M (in GS). VAR_039484
172 - 172 W -> R (in GS). VAR_039485
178 - 178 S -> L (in GS). VAR_039486
180 - 180 T -> K (in GS). VAR_039487
186 - 186 G -> D (in GS). VAR_039488
209 - 209 R -> Q (in GS; dbSNP:rs28936388). VAR_039489 28936388
209 - 209 R -> W (in GS; dbSNP:rs28936388). VAR_007113 28936388
215 - 215 L -> P (in GS). VAR_039490
226 - 226 A -> T (in GS). VAR_039491
230 - 230 G -> D (in GS). VAR_039492
261 - 261 R -> H (in GS). VAR_039493
264 - 264 A -> G (in dbSNP:rs1529927). VAR_039494 1529927
283 - 283 S -> Y (in GS). VAR_039495
284 - 284 K -> R (in GS). VAR_039496
304 - 304 T -> P (in GS). VAR_039497
313 - 313 A -> V (in GS). VAR_039498
316 - 316 G -> V (in GS). VAR_039499
321 - 321 R -> W (in GS). VAR_039500
334 - 334 R -> W (in GS). VAR_039501
342 - 342 G -> A (in GS). VAR_039502
349 - 349 P -> L (in GS). VAR_007114
374 - 374 G -> V (in GS). VAR_039503
399 - 399 R -> C (in GS). VAR_039504
421 - 421 C -> R (in GS; dbSNP:rs28936387). VAR_007115 28936387
439 - 439 G -> S (in GS). VAR_039505
463 - 463 G -> E (in GS). VAR_039506
464 - 464 A -> T (in GS). VAR_039507
478 - 478 K -> E (in GS). VAR_039508
486 - 486 D -> N (in GS). VAR_007116
496 - 496 G -> C (in GS). VAR_007117
542 - 542 L -> P (in GS). VAR_039509
555 - 555 S -> L (in GS). VAR_039510
560 - 560 P -> H (in GS). VAR_039511
561 - 561 Missing (in GS). VAR_007118
569 - 569 A -> E (in GS). VAR_039512
569 - 569 A -> V (in GS). VAR_039513
578 - 578 V -> M (in GS). VAR_039514
588 - 588 A -> V (in GS). VAR_007119
613 - 613 G -> S (in GS). VAR_039515
615 - 615 S -> L (in GS). VAR_039516
615 - 615 S -> W (in GS). VAR_039517
623 - 623 L -> P (in GS). VAR_039518
630 - 630 G -> V (in GS; dbSNP:rs28936389). VAR_007120 28936389
642 - 642 R -> C (in GS). VAR_039519
642 - 642 R -> G (in GS). VAR_039520
642 - 642 R -> H (in GS). VAR_039521
643 - 643 P -> L (in GS). VAR_039522
649 - 649 T -> R (in GS). VAR_039523
655 - 655 R -> C (in GS). VAR_039524
655 - 655 R -> H (in GS). VAR_007121
655 - 655 R -> L (in GS). VAR_007122
672 - 672 M -> I (in GS). VAR_039525
677 - 677 V -> L (in GS). VAR_039526
677 - 677 V -> M (in GS). VAR_039527
728 - 728 A -> T (in dbSNP:rs36049418). VAR_007123 36049418
729 - 729 G -> V (in GS). VAR_039528
731 - 731 G -> R (in GS). VAR_039529
738 - 738 L -> R (in GS). VAR_039530
741 - 741 G -> R (in GS). VAR_007124
849 - 849 L -> H (in GS). VAR_039531
850 - 850 L -> P (in GS). VAR_007125
852 - 852 R -> C (in GS). VAR_039532
852 - 852 R -> H (in GS). VAR_039533
852 - 852 R -> S (in GS). VAR_039534
854 - 854 R -> K (in dbSNP:rs8060046). VAR_060106 8060046
867 - 867 G -> S (in GS). VAR_039535
871 - 871 R -> H (in GS). VAR_039536
904 - 904 R -> Q (in dbSNP:rs11643718). VAR_039537 11643718
919 - 919 R -> C (increases sodium transport; dbSNP:rs12708965). VAR_039538 12708965
955 - 955 R -> Q (in GS). VAR_007126
958 - 958 R -> G (in GS). VAR_039539
985 - 985 C -> Y (in GS). VAR_039540