SLC12A1 Gene
protein-coding GIFtS : 63 GCID: GC15 P048498
solute carrier family 12 (sodium/potassium/chloride transporters),...
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Aliasesfor SLC12A1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member1 1 2 BSC12 NKCC21 2 3 5 Na-K-2Cl Cotransporter2 Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 22 3 NKCC2A Variant A2 Kidney-Specific Na-K-Cl Symporter2 3 Solute Carrier Family 12 Member 12
Export aliases for SLC12A1 gene to outside databases Previous GC identifers: GC15P044057 GC15P041545 GC15P046078 GC15P046214 GC15P046215 GC15P046287 GC15P025334
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Summariesfor SLC12A1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for SLC12A1 : This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.(provided by RefSeq, May 2010) UniProtKB/Swiss-Prot: S12A1_HUMAN, Q13621 Function : Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in theregulation of ionic balance and cell volume summary
for SLC12A1 : NKCC cotransporters are membrane-bound channels that play a prominent role in a variety of epithelialabsorptive and secretory processes and a direct role in cell volume regulation. There are two NKCC isoforms;NKCC1 and NKCC2. NKCC1 is found on almost all cells types and, importantly, is located on the basolateralmembrane of secretory epithelia. In contrast NKCC2 is found exclusively in the kidney, specifically on theapical membrane of absorptive epithelia. The NKCC is distinguished from all other transporters by the factthat it transports Na+, K+ and Cl- stoichiometrically by means of a tightly coupled mechanism that can beblocked by loop diuretics. The NKCC is electrically silent (i.e. not driven by a membrane voltage, nor doesit establish one) and requires all three ions to be simultaneously present on the same side of the plasmamembrane. This is achieved by an allosteric effect where binding of one ion increases the apparent affinityof the binding site for the other ions. NH4+ may substitute for K+ (especially at NKCC2), which has animportant role in NH4+ recycling and excretion of excess acid in the kidney. The NKCC involves a secondaryactive transport process, despite its requirement for cellular ATPase. It is activated by phosphorylation,which is mediated by PKC and PKA. CK2 binding sites are also present on the NKCC, but the significance isunknown. Protein phosphatases act to reduce NKCC activity by dephosphorylating the transporter. Furthermore,the intracellular concentration of ions, including Cl-, Na+, K+, Mg2+, Ca2+ and H+, has an effect on NKCCactivity. There is also evidence that depolymerization of the actin cytoskeleton is associated with NKCCactivation.
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Genomic Viewsfor SLC12A1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000015.9 NC_018926.1 NT_010194.17 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SLC12A1 gene promoter:TBP POU2F1 POU2F1b POU2F1a ATF-2 FOXD3 POU2F1c RSRFC4 Other transcription factors Search SABiosciences Chromatin IP Primers for SLC12A1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC12A1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 15q15-q21.1 Ensembl cytogenetic band: 15q21.1 HGNC cytogenetic band: 15q15-q21 SLC12A1 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 15 GeneLoc Exon Structure
GeneLoc location for GC15P048498: view genomic region
(about GC identifiers )
Start: 48,483,861 bp from pter End:
48,596,275 bp from pter
Size: 112,415 bases Orientation:
plus strand
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Proteinsfor SLC12A1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: S12A1_HUMAN, Q13621 See
protein sequence )Recommended Name: Size : 1099 amino acids; 121450 DaSubcellular location : Membrane; Multi-pass membrane proteinSecondary accessions : A8JYA2Alternative splicing : 3 isoforms : Q13621-1 Q13621-2 Q13621-3 Explore the universe of human proteins at neXtProt for SLC12A1: NX_Q13621 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q13621 SLC12A1 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (2 alternative transcripts): NP_000329.2 NP_001171761.1 ENSEMBL proteins: ENSP00000453602 ENSP00000453230 ENSP00000452952 ENSP00000379822 ENSP00000331550 ENSP00000453409 ENSP00000454178 ENSP00000454054 ENSP00000370381 Reactome Protein details: Q13621 Human Recombinant Protein Products: Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view) : About this table
About GeneDecksing SLC12A1 Antibody Products: Assay Products for SLC12A1:
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Protein
Domains /for SLC12A1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q13621 ProtoNet protein and cluster: Q13621
3 Blocks protein families : IPB002443 IPB002445 IPB013612 UniProtKB/Swiss-Prot: S12A1_HUMAN, Q13621 Similarity : Belongs to the SLC12A transporter family
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Functionfor SLC12A1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: S12A1_HUMAN, Q13621 Function : Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in theregulation of ionic balance and cell volume Enzyme regulation : Activated by WNK3
Genatlas biochemistry entry for SLC12A1 solute carrier family 12 (sodium/potassium/chloride transfer 1,primary mediator of sodium and chloride reabsorption in the apical membrane thick ascending limb of the loop of Henle Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): SLC12A1 (NM_000338 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC12A1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SLC12A1
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A1
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view) : About this table
About GeneDecksing 1 GenomeRNAi human phenotype for SLC12A1 :Animal Models: Slc12a1 tm1Haca Slc12a1 tm1Tkh Slc12a1 tm2Haca 11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Slc12a1) :About GeneDecksing
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Pathways & Interactionsfor SLC12A1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways About this table See pathways by source Super-pathway contained gene-specific pathways 1 SLC-mediated transmembrane transport 2 Cation-coupled Chloride cotransporters 3 Diuretics Pathway, Pharmacodynamics 4 Amino acid and oligopeptide SLC transporters 5 Neuropathic Pain-Signaling in Dorsal Horn Neurons
Pathway sources See GeneCards unified pathways Show all pathways 1 4 1 SLC12A1 About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC12A1 STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)2 Interacting proteins for SLC12A1 (Q13621 3 ENSP00000370381 4 via UniProtKB, MINT, STRING , and/or I2D About this table Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10 ): About this table
About GeneDecksing
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Drugs & Compoundsfor SLC12A1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Compounds for SLC12A1 available from Tocris Bioscience About this table Compound Action
CAS
# Furosemide Na+/2Cl-/K+ (NKCC) cotransporter inhibitor. Also antagonizes GABAA [54-31-9] Bumetanide Na+/2Cl-/K+ (NKCC) cotransporter inhibitor [28395-03-1]
3 HMDB Compounds for SLC12A1 About this table 10/12 DrugBank Compounds for SLC12A1 (see all 12 )About this table 10/16 Novoseek chemical compound relationships for SLC12A1 gene (see all 16 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
bumetanide
81.5
9
8384781 (2), 1506774 (1), 8498486 (1), 8743460 (1) (see all 8 )
chloride
70
15
1506774 (1), 17202415 (1), 17186942 (1), 8743460 (1) (see all 11 )
nacl
62.4
8
10486660 (1), 9587066 (1), 11133509 (1), 11496061 (1) (see all 7 )
86rb
60.3
1
8384781 (1)
potassium
57.7
31
8384781 (2), 10617800 (1), 17202415 (1), 9355073 (1) (see all 21 )
furosemide
55.3
3
8743460 (1), 15564765 (1), 17460608 (1)
sodium
54.7
19
11496061 (2), 17202415 (1), 16785747 (1), 15958043 (1) (see all 12 )
thiazide
54.4
3
15564765 (1), 14596636 (1)
forskolin
41.3
1
7573487 (1)
ammonium
24.2
1
12227253 (1)
SLC12A1 / S12A1
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Transcriptsfor SLC12A1 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for SLC12A1 gene (2 alternative transcripts): NM_000338.2 NM_001184832.1 Unigene Cluster for SLC12A1:
Solute carrier family 12 (sodium/potassium/chloride transporters), member 1 Hs.123116 [show with all ESTs ] Unigene Representative Sequence: BX647067 13 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000561127 ENST00000559641 ENST00000559307 ENST00000560480 ENST00000396577 (uc010bem.3 )ENST00000330289 (uc010uex.2 ) ENST00000558405 (uc010uew.1 ) ENST00000561031 ENST00000558252 (uc001zwq.4 ) ENST00000560692 (uc001zwr.4 ) ENST00000559723 ENST00000558805 ENST00000380993 (uc001zwn.4 ) Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): SLC12A1 (NM_000338 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SLC12A1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SLC12A1
Additional cDNA sequence: AK129998.1 BC040138.2 BX647067.1 BX647484.1 EF559316.2 U58130.1
7 DOTS entries : DT.100016248 DT.107157
DT.95365788 DT.91695963 DT.101980929 DT.121081107 DT.91695960 24/74 AceView cDNA sequences (see all 74 ):
BG433923 AA746164 BC040138 AB032527 BX647484 AB032525 BE464188 AI631764 AI767758 AI792946 AB032526 AI627643 AI792876 AA983558 AW300429 BE466298 AI925893 AA917702 NM_000338 BG432272 U58130 AI732841 BG425888 AW271346 GeneLoc Exon Structure 3 Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A1 About this scheme ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ SP1 : - SP2 : SP3 : - - -
ExUns: 24 ^ 25 ^ 26 SP1 : SP2 : SP3 :
ECgene alternative splicing isoforms for SLC12A1
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Expression for SLC12A1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section SLC12A1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image SLC12A1 expression in embryonic tissues and stem cells About this table 2 LifeMap In Vivo Development Anatomical Compartments/CellsTissue Category (developmental path) Kidney Loop of Henle Loop of Henle Cells Kidney Kidney Metanephros Kidney Expression: Experimental details:
In-situ hybridization
See SLC12A1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SLC12A1 SOURCE GeneReport for Unigene cluster: Hs.123116 UniProtKB/Swiss-Prot: S12A1_HUMAN, Q13621 Tissue specificity : Kidney specificSABiosciences Custom PCR Arrays for SLC12A1 Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC12A1
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Orthologsfor SLC12A1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for SLC12A1 gene from 6/18 species (see all 18 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
chicken Aves SLC12A11
solute carrier family 12 (sodium/potassium/chloride more
78.67(n) 82.72(a)
415433 XM_413814.3 XP_413814.3
lizard Reptilia ----
--
81(a) 79(a)
1 ↔ many1 ↔ many
GL343561.1(365556-421979) GL343806.1(2696-17487)
tropical clawed frog Amphibia Str.121922
Transcribed sequence with moderate similarity to protein more
79.62(n)
BX706679.1
zebrafish Actinopterygii LOC1003299751
solute carrier family 12 member 1-like
65.47(n) 68.69(a)
100329975 XM_002665297.3 XP_002665343.2
fruit fly Insecta CG43573
sodium:chloride symporter
47(a)
69B3 --
worm Secernentea F10E7.93 1
bumetanide-sensitive Na-K-Cl cotransporter3 1
25(a) 3 53.5(n) 1 48.13(a) 1
II(7106372-7107509)3 3565648 1 NM_001083255.1 1 NP_001076724.1 1
ENSEMBL Gene Tree for SLC12A1 (if available)TreeFam Gene Tree for SLC12A1 (if available)
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Paralogsfor SLC12A1 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SLC12A1 gene SLC12A7 2 SLC12A8 2 SLC12A4 2 SLC12A5 2 SLC12A3 2 SLC12A9 2 SLC12A6 2 SLC12A2 2 6 SIMAP similar genes for SLC12A1 using alignment to 9 protein entries: S12A1_HUMAN (see all proteins ):NKCC2 SLC12A2 SLC12A3 SLC12A8 SLC12A6 SLC12A5 About GeneDecksing
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Genomic Variantsfor SLC12A1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 15 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for SLC12A1 (48483861 - 48596275 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for SLC12A1 1 CNV 3962 2 Indels 61443 102099 Human Gene Mutation Database (HGMD) : SLC12A1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor SLC12A1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 600839 OMIM disorders : 601678 UniProtKB/Swiss-Prot: S12A1_HUMAN, Q13621 Defects in SLC12A1 are the cause of Bartter syndrome type 1 (BS1) [MIM:601678]. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of BS1 is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia 20/28 (see all 28 ): About MalaCards bartter syndrome, type 1 focal segmental glomerulosclerosis diabetes insipidus nephrogenic diabetes insipidus gitelman syndrome ureteral obstruction nephrocalcinosis hypokalemia hypercalciuria essential hypertension bartter disease dent disease hypomagnesemia hydronephrosis polyhydramnios glomerulosclerosis pseudohypoaldosteronism hyperaldosteronism leptospirosis hypercalcemia 6 diseases from the University of Copenhagen DISEASES database for SLC12A1 :Bartter disease Gitelman syndrome Polyhydramnios Nephrocalcinosis Hypokalemia Nephrogenic diabetes insipidus 10/19 Novoseek disease relationships for SLC12A1 gene (see all 19 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
bartters syndrome
95.9
44
9519207 (2), 9585600 (2), 15980941 (1), 19056867 (1) (see all 30 )
bartter syndrome, classic
94
2
11780689 (1), 15056980 (1)
gitelman syndrome
91.4
5
15980941 (1), 12911530 (1), 10546515 (1), 15056980 (1)
hyperprostaglandin e syndrome
91.3
2
9587066 (1), 17657111 (1)
metabolic alkalosis
85.1
3
11826289 (1), 9672238 (1)
nephrocalcinosis
79.8
2
9519207 (1), 19096086 (1)
hypercalciuria
77.4
6
9519207 (2), 11815871 (1), 8841184 (1), 9672238 (1)
hypokalemia
71.7
1
11815871 (1)
diabetes insipidus nephrogenic
69.2
1
18216147 (1)
alkalosis
65.9
4
11815871 (1), 8640224 (1), 8841184 (1)
Genatlas disease: SLC12A1 Bartter syndrome,hypokalemic,hypochloremic metabolic alkalosis with hyperkaliury,hyperexcretion of prostaglandin E,hyperreninemia hyperaldosteronism with normal blood pressure,insensitivity to AGT2,and hyperplasia of juxtaglomerular apparatus,autosomal recessive,presenting as an antenatal form with hydramnios prematurity and dehydration at built and a classic form with failure to thrive Genetic Association Database (GAD): SLC12A1 Human Genome Epidemiology (HuGE) Navigator: SLC12A1 (10 documents) Export disorders for SLC12A1 gene to outside databases
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Publicationsfor SLC12A1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SLC12A1 gene, integrated from 9 sources (see all 179 ):(articles sorted by number of sources associating them with SLC12A1) Utopia : connect your pdf to the dynamic
Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. (PubMed id 8640224) 1 , 2 , 3, 9(1996) Interaction of alpha(1)-Na,K-ATPase and Na,K,2Cl-cotransporter genes in human essential hypertension. (PubMed id 11509477) 1 , 4, 9(2001) Non-association of the thiazide-sensitive Na,Cl-cotransporter gene with polygenic hypertension in both rats and humans. (PubMed id 11564973) 1 , 4, 9(2001) Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs. (PubMed id 17460608) 1 , 7, 9(2007) Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. (PubMed id 21613606) 1 , 2 (2011) Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter. (PubMed id 16807401) 1 , 7(2006) Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PubMed id 15167446) 1 , 4(2004) Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. (PubMed id 17998760) 1 , 9(2007) Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. (PubMed id 19096086) 1 , 9(2009) In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. (PubMed id 19513753) 1 , 9(2009)
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Name Description PharmGKB entry for SLC12A1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for SLC12A1 gene: SLC12A1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SLC12A1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
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Browse OriGene Antibodies OriGene shRNA RFP for SLC12A1 OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for SLC12A1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SLC12A1 OriGene 3'-UTR Clone for SLC12A1 OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SLC12A1 QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC12A1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
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Expression by the Database of Embryonic development, Stem cell research, and
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Anatomical Compartment 
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