Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6559
Gene name	Solute carrier family 12 member 3
Gene symbol	SLC12A3
Synonyms (NCBI Gene)	NCCNCCTTSC
Chromosome	16
Chromosome location	16q13
Summary	This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman s

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SNP ID	Visualize variation	Clinical significance	Consequence
rs13306668	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs28936387	T>C	Pathogenic	Missense variant, coding sequence variant
rs28936388	C>T	Pathogenic	Missense variant, coding sequence variant
rs34803727	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909379	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909380	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs121909382	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121909383	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909384	G>T	Pathogenic	Coding sequence variant, missense variant
rs121909385	T>C	Pathogenic	Coding sequence variant, missense variant
rs138977195	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs139743444	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs140012781	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs140551719	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs142679083	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145337602	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs146158333	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs146632606	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs147200024	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs147901432	G>A	Pathogenic	Coding sequence variant, missense variant
rs148038173	C>T	Pathogenic	Coding sequence variant, missense variant
rs185927948	T>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs199849117	G>A	Pathogenic	Missense variant, coding sequence variant
rs200697179	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs200817545	A>C,G,T	Pathogenic	Missense variant, coding sequence variant
rs201255508	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs201555148	G>A	Pathogenic	Splice acceptor variant
rs201945662	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs267607050	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607051	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs369360334	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs370175770	G>A	Pathogenic	Missense variant, coding sequence variant
rs371443644	C>T	Pathogenic	Missense variant, coding sequence variant
rs373899077	C>T	Pathogenic	Missense variant, coding sequence variant
rs373901523	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs374055486	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs374163823	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs374182921	C>G,T	Pathogenic	Intron variant
rs374324018	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs377456965	A>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs568513106	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs747139582	C>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs748547209	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs749098014	G>T	Pathogenic	Splice donor variant
rs750710315	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs751409326	C>A	Pathogenic	Stop gained, coding sequence variant
rs752101663	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs753523115	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs754220610	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs754378340	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs755560627	G>T	Pathogenic	Splice acceptor variant
rs758035631	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs759377924	G>A	Pathogenic	Missense variant, coding sequence variant
rs759426055	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs759801838	GTACTG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs764220175	T>C	Likely-pathogenic	Splice donor variant
rs768527231	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs770513014	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771701344	ACCAAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs775931992	C>T	Pathogenic	Coding sequence variant, missense variant
rs779160677	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs780299444	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs886039753	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039754	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886041108	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793879	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1215667472	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1274973729	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1347239469	G>C,T	Pathogenic	Splice donor variant
rs1366655422	G>A	Pathogenic	Stop gained, coding sequence variant
rs1441228030	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555499123	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555499151	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555499234	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555501437	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555501632	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1596883431	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596890176	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant

100

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017508	hsa-miR-335-5p	Microarray	18185580
MIRT708972	hsa-miR-4780	HITS-CLIP	19536157
MIRT708971	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT708970	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708969	hsa-miR-4469	HITS-CLIP	19536157
MIRT708968	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT708967	hsa-miR-4287	HITS-CLIP	19536157
MIRT708966	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT708965	hsa-miR-623	HITS-CLIP	19536157
MIRT708964	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT708963	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708962	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT708961	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT708960	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT708959	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT708972	hsa-miR-4780	HITS-CLIP	19536157
MIRT708971	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT708970	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708969	hsa-miR-4469	HITS-CLIP	19536157
MIRT708968	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT708967	hsa-miR-4287	HITS-CLIP	19536157
MIRT708966	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT708965	hsa-miR-623	HITS-CLIP	19536157
MIRT708964	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT708963	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708962	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT708961	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT708960	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT708959	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT1351987	hsa-miR-1285	CLIP-seq
MIRT1351988	hsa-miR-1301	CLIP-seq
MIRT1351989	hsa-miR-1303	CLIP-seq
MIRT1351990	hsa-miR-3187-5p	CLIP-seq
MIRT1351991	hsa-miR-3614-5p	CLIP-seq
MIRT1351992	hsa-miR-3914	CLIP-seq
MIRT1351993	hsa-miR-4293	CLIP-seq
MIRT1351994	hsa-miR-4660	CLIP-seq
MIRT1351995	hsa-miR-4680-5p	CLIP-seq
MIRT1351996	hsa-miR-4698	CLIP-seq
MIRT1351997	hsa-miR-502-5p	CLIP-seq
MIRT1351998	hsa-miR-5047	CLIP-seq
MIRT1351999	hsa-miR-5096	CLIP-seq
MIRT1352000	hsa-miR-558	CLIP-seq
MIRT1352001	hsa-miR-596	CLIP-seq
MIRT1352002	hsa-miR-612	CLIP-seq
MIRT1352003	hsa-miR-651	CLIP-seq
MIRT1352004	hsa-miR-661	CLIP-seq
MIRT1351988	hsa-miR-1301	CLIP-seq
MIRT1351989	hsa-miR-1303	CLIP-seq
MIRT1351997	hsa-miR-502-5p	CLIP-seq
MIRT1351998	hsa-miR-5047	CLIP-seq
MIRT1553708	hsa-miR-3665	CLIP-seq
MIRT1553709	hsa-miR-4268	CLIP-seq
MIRT1553710	hsa-miR-657	CLIP-seq
MIRT2104308	hsa-miR-205	CLIP-seq
MIRT2104309	hsa-miR-3122	CLIP-seq
MIRT2104310	hsa-miR-3689a-3p	CLIP-seq
MIRT2104311	hsa-miR-3689c	CLIP-seq
MIRT2104312	hsa-miR-3913-5p	CLIP-seq
MIRT2104313	hsa-miR-4428	CLIP-seq
MIRT2104314	hsa-miR-508-5p	CLIP-seq
MIRT2328623	hsa-miR-24	CLIP-seq
MIRT2104309	hsa-miR-3122	CLIP-seq
MIRT2328624	hsa-miR-3124-3p	CLIP-seq
MIRT2104312	hsa-miR-3913-5p	CLIP-seq
MIRT2328625	hsa-miR-4284	CLIP-seq
MIRT2328626	hsa-miR-587	CLIP-seq
MIRT2394610	hsa-miR-1293	CLIP-seq
MIRT2104309	hsa-miR-3122	CLIP-seq
MIRT2104310	hsa-miR-3689a-3p	CLIP-seq
MIRT2104311	hsa-miR-3689c	CLIP-seq
MIRT2104312	hsa-miR-3913-5p	CLIP-seq
MIRT2394611	hsa-miR-4483	CLIP-seq
MIRT2623125	hsa-miR-1226	CLIP-seq
MIRT2623126	hsa-miR-3591-3p	CLIP-seq
MIRT2623127	hsa-miR-3675-3p	CLIP-seq
MIRT2623128	hsa-miR-4684-5p	CLIP-seq
MIRT2623129	hsa-miR-505	CLIP-seq
MIRT2623125	hsa-miR-1226	CLIP-seq
MIRT2623126	hsa-miR-3591-3p	CLIP-seq
MIRT2623127	hsa-miR-3675-3p	CLIP-seq
MIRT2623128	hsa-miR-4684-5p	CLIP-seq
MIRT2623129	hsa-miR-505	CLIP-seq
MIRT2690828	hsa-miR-548c-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	22406640
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	22009145, 36370249
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8670281
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	ISS
GO:0006884	Process	Cell volume homeostasis	IBA
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IBA
GO:0015081	Function	Sodium ion transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015377	Function	Chloride:monoatomic cation symporter activity	IEA
GO:0015378	Function	Sodium:chloride symporter activity	IDA	18270262, 36351028, 36792826
GO:0015378	Function	Sodium:chloride symporter activity	IEA
GO:0015378	Function	Sodium:chloride symporter activity	TAS	8528245
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8670281
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	21397062
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	ISS
GO:0055064	Process	Chloride ion homeostasis	IBA
GO:0055075	Process	Potassium ion homeostasis	IBA
GO:0055078	Process	Sodium ion homeostasis	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0070294	Process	Renal sodium ion absorption	IDA	18270262
GO:1902074	Process	Response to salt	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1904044	Process	Response to aldosterone	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

MIM	HGNC	e!Ensembl
600968	10912	ENSG00000070915

P55017

Protein name

Solute carrier family 12 member 3 (Na-Cl cotransporter) (NCC) (Na-Cl symporter) (Thiazide-sensitive sodium-chloride cotransporter)

Protein function

Electroneutral sodium and chloride ion cotransporter, which acts as a key mediator of sodium and chloride reabsorption in kidney distal convoluted tubules (PubMed:18270262, PubMed:21613606, PubMed:22009145, PubMed:36351028, PubMed:36792826). Als

PDB

7Y6I , 7YG0 , 7YG1 , 8FHN , 8FHO , 8FHP , 8FHQ , 8FHR , 8FHT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08403	AA_permease_N	45 → 116	Amino acid permease N-terminal	Family
PF00324	AA_permease	141 → 647	Amino acid permease	Family
PF03522	SLC12	655 → 810	Solute carrier family 12	Family
PF03522	SLC12	795 → 1020	Solute carrier family 12	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in the kidney (at protein level) (PubMed:29993276, PubMed:8812482). Localizes to the distal convoluted tubules (at protein level) (PubMed:29993276). Not detected in normal aorta, but abundantly expressed in fatt

Sequence

MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNT
IDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEG
EAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVT
VTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAE
TVRDLLQEYGAPIVDPINDIRIIAVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANY
LVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPSATGILAGANI
SGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLA
CSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVF
QCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSY
ALINFSCFHASITNSPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLL
LYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVD
FVGTFTRNLSLMICGHVLIGPHKQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRG
VQILMQAAGLGRMKPNILVVGFKKNWQSAHPATVEDYIGILHDAFDFNYGVCVMRMREGL
NVSKMMQAHINPVFDPAEDGKEASARVDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDG
GLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDIN
QNPRAEHTKRFEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLN
EIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYC
Q

Sequence length

1021

Interactions

View interactions

	KEGG		Reactome
	Parathyroid hormone synthesis, secretion and action		Cation-coupled Chloride cotransporters Defective SLC12A3 causes Gitelman syndrome (GS)

783

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bartter syndrome	Likely pathogenic; Pathogenic	rs138977195, rs121909380, rs199974259, rs140012781, rs201555148, rs759377924, rs34803727, rs750710315, rs776210036, rs781209989, rs1451284628	RCV001328096 RCV001328221 RCV001328169 RCV001328101 RCV001328170 RCV001328223 RCV001328220 RCV001328167 RCV001328171 RCV001328173 RCV001328166
Cervical cancer	Likely pathogenic; Pathogenic	rs202114767	RCV005899615
Familial aortopathy	Pathogenic	rs759377924	RCV004544962
Familial hypokalemia-hypomagnesemia	Likely pathogenic; Pathogenic	rs777815715, rs1401379546, rs2055071588, rs150046661, rs781137708, rs200219778, rs755069436, rs748575829, rs2144723594, rs779215330, rs754576009, rs761692493, rs765609579, rs371443644, rs2144689577 View all (179 more)	RCV002286834 RCV001329193 RCV005015670 RCV001831367 RCV002504631 RCV001542489 RCV001826158 RCV002243171 RCV001831394 RCV001807397 RCV006249753 RCV002493932 RCV001826181 RCV000087747 RCV001526394 RCV001535886 RCV001542490 RCV002502009 RCV002243433 RCV001730038 RCV001733790 RCV001784974 RCV001783751 RCV001801295 RCV001801303 RCV001804220 RCV001805746 RCV001823449 RCV001824227 RCV002243501 RCV005008327 RCV005006314 RCV002497870 RCV002290814 RCV002503482 RCV002243505 RCV002243480 RCV004690200 RCV005008308 RCV002484810 RCV005008309 RCV002498026 RCV002243499 RCV005016935 RCV002506984 RCV002471179 RCV005008301 RCV005017010 RCV002507700 RCV003331251 RCV003230719 RCV005016957 RCV005017044 RCV002243478 RCV003314029 RCV003323942 RCV002245154 RCV002245158 RCV002245161 RCV002245163 RCV002245164 RCV002245167 RCV002245168 RCV002245169 RCV002245170 RCV002245172 RCV002245173 RCV002245174 RCV002245175 RCV002245178 RCV002245181 RCV002245187 RCV002283800 RCV002283819 RCV002288428 RCV002289071 RCV004796762 RCV005019587 RCV005019588 RCV005010906 RCV004796763 RCV003988065 RCV005008633 RCV003324041 RCV000190624 RCV000191129 RCV005631066 RCV005019482 RCV000490297 RCV000009115 RCV000009116 RCV000009117 RCV000009118 RCV000009119 RCV000009120 RCV000009121 RCV000009122 RCV000009123 RCV000009124 RCV000009125 RCV000009126 RCV001807148 RCV003134015 RCV003134019 RCV003158009 RCV000258950 RCV003314331 RCV003322725 RCV003388755 RCV003479792 RCV005013024 RCV005014775 RCV005014835 RCV005014847 RCV005013094 RCV005014858 RCV005013099 RCV005616830 RCV003992088 RCV003994921 RCV000380828 RCV000286818 RCV004527202 RCV004555441 RCV004556172 RCV004577936 RCV004595091 RCV004595242 RCV000362354 RCV001271445 RCV000762973 RCV000449562 RCV000454555 RCV000477915 RCV000477802 RCV000501643 RCV000504824 RCV000762971 RCV001274377 RCV000762972 RCV001276379 RCV001271446 RCV000522635 RCV000578467 RCV000625612 RCV000625608 RCV001807314 RCV000762974 RCV002245585 RCV000760979 RCV005021116 RCV001825428 RCV000762975 RCV001807339 RCV000779192 RCV000778472 RCV000779193 RCV000786876 RCV000786873 RCV001274375 RCV001825611 RCV002501092 RCV001251514 RCV001115368 RCV002282370 RCV001276374 RCV001276376 RCV001251115 RCV001276383 RCV001807374 RCV001276382 RCV001004939 RCV001328167 RCV001827172 RCV001832505 RCV001328171 RCV001276375 RCV001281278 RCV001827438 RCV001832488 RCV001328173 RCV001833890 RCV001828761 RCV001828726 RCV001833878 RCV001833882 RCV004594250 RCV001807392 RCV001828656 RCV001833866 RCV001807391 RCV001833800 RCV001833931 RCV003324350 RCV001828849 RCV002245892 RCV001833973 RCV001281277 RCV001251491 RCV001830070 RCV001328166 RCV001280859 RCV001807395 RCV001807396
Hypermagnesemia	Likely pathogenic; Pathogenic	rs138977195	RCV000626663
Hypokalemia	Likely pathogenic; Pathogenic	rs138977195	RCV000626663
Inherited renal tubular disease	Likely pathogenic; Pathogenic	rs138977195	RCV004017477
Muscle weakness	Likely pathogenic; Pathogenic	rs138977195	RCV000626663
Myalgia	Likely pathogenic; Pathogenic	rs138977195	RCV000626663
Renal tubular acidosis	Likely pathogenic; Pathogenic	rs121909383	RCV005624681
Renal tubulopathies	Pathogenic; Likely pathogenic	rs779215330, rs750901478, rs138977195, rs121909379, rs267607050, rs199974259, rs758035631	RCV005863438 RCV006257354 RCV006250219 RCV006255128 RCV006257289 RCV006250221 RCV006270237
SLC12A3-related disorder	Likely pathogenic; Pathogenic	rs150046661, rs781342495, rs138977195, rs770702194, rs121909379, rs1280772093, rs2055276585, rs201555148, rs140551719, rs759377924, rs145337602, rs148038173, rs374182921, rs758035631	RCV003918895 RCV003893019 RCV003401040 RCV003403969 RCV003421914 RCV003966315 RCV003402963 RCV003925548 RCV003409740 RCV004745564 RCV004745583 RCV004745590 RCV003928288 RCV003413782

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs886039753	-
Acute myeloid leukemia	Likely benign	rs999662	RCV005917904
Cholangiocarcinoma	Benign	rs2289114	RCV005917399
Gastric cancer	Likely benign	rs999662	RCV005917905
Lung cancer	Benign	rs80159054	RCV005915844
Thymoma	Benign; Conflicting classifications of pathogenicity	rs80159054, rs368509876	RCV005915843 RCV005894500
Uterine carcinosarcoma	Benign	rs2304481	RCV005918887
Uterine corpus endometrial carcinoma	Likely benign	rs999662	RCV005917906

Show/Hide Text Mining Associations (70)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Renal Tubular	Associate	39210578
Albuminuria	Associate	32634861
Alkalosis	Associate	12911530, 18520105, 26770037, 32758178, 34046503, 37327293
Antiphospholipid Syndrome	Associate	27803420
Arachnoiditis	Associate	22568564
Bartter Syndrome	Associate	21631963, 32758178
Bartter syndrome type 3	Associate	33807568
Bartter Syndrome Type 3 with Hypocalciuria	Associate	18520105, 26770037, 27783806, 29378538, 32758178
Brain Ischemia	Associate	22568564
Breast Neoplasms	Associate	35113855
Calcinosis	Associate	30340552
Carcinoma Renal Cell	Associate	32144299, 34449964, 37657024, 38290445, 39348357
Cerebrovascular Disorders	Associate	29661184
Chondrocalcinosis	Associate	32292023, 33807568
Coronary Artery Disease	Associate	31480784
Diabetes Mellitus	Associate	28446151, 34348722
Diabetes Mellitus Type 2	Associate	17653210, 32600448, 32634861, 32702863, 34348722, 34617250, 37327293
Diabetic Nephropathies	Associate	17653210, 32634861
Disease	Associate	18391953
Dwarfism Pituitary	Associate	31577716
Dyslipidemias	Associate	31480784
Essential Hypertension	Associate	18362449, 21644207, 28274929, 29808706
Fractures Bone	Associate	33542107
Genetic Diseases Inborn	Associate	33542107
Gitelman Syndrome	Associate	11168953, 12008755, 12172059, 12472765, 12911530, 14675033, 15198479, 15206555, 16543691, 18520105, 21051746, 21415153, 21628937, 21631963, 21757836 View all (63 more)
Gitelman Syndrome	Inhibit	31586298
Glomerulonephritis Membranous	Associate	35883046
Growth Disorders	Associate	14675033
Hashimoto Disease	Associate	34046503
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35113855
Hypercalciuria	Associate	32758178
Hypercholesterolemia	Associate	31480784
Hyperglycemia	Associate	32702863
Hyperparathyroidism Primary	Associate	39183425
Hyperphosphatemia	Associate	31305454
Hypertension	Associate	18391953, 20555294, 21644207, 23328711, 24266877, 26336164, 26751802, 29661184, 30248150, 37065732, 38634133
Hypertriglyceridemia	Associate	31480784
Hypokalemia	Associate	18520105, 25273610, 27783806, 30340552, 32758178, 34046503, 34617250, 37657006, 39183425
Hypoparathyroidism	Associate	31305454
Hypotension	Associate	18391953
Hypovolemia	Associate	34046503
Islet cell tumor syndrome	Associate	35627249
Kidney Calculi	Associate	32758178
Kidney Diseases	Associate	34046503, 37248651
Kidney Failure Chronic	Associate	35327948
Long QT Syndrome	Associate	30305584
Lung Diseases	Associate	35113855
Lung Neoplasms	Associate	35113855
Mitochondrial Diseases	Associate	34607911
Myocardial Infarction	Associate	20031564
Neoplasms	Associate	32144299, 38290445
Nephrolithiasis	Associate	12472765
Nephrotic Syndrome	Associate	35883046
Nervous System Diseases	Associate	32292023
Obesity	Associate	25768006
Pheochromocytoma	Associate	35627249
Pre Eclampsia	Associate	30248150
Prostatic Neoplasms	Associate	35113855
Prostatitis	Associate	35113855
Proteinuria	Associate	30340552, 34046503
Pseudotumor Cerebri	Associate	21757836
Renal Insufficiency	Associate	24162365
Renal Insufficiency Chronic	Associate	34617250, 40262004
SeSAME syndrome	Associate	32292023
Syndrome	Associate	35627249, 37058043, 37657006
Taste Disorders	Associate	31305454, 35327948
Tetany	Associate	37058043
Uveal melanoma	Associate	36925204
Vasospasm Intracranial	Associate	22568564
Wilms Tumor	Associate	37904849

SLC12A3 (solute carrier family 12 member 3)