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Slc12a3
Gene Detail
 Symbol
Name
ID
Slc12a3
solute carrier family 12, member 3
MGI:108114
Synonyms NCC, TSC
Feature Type protein coding gene
Genetic Map
Chromosome 8
46.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr8:94329208-94366222 bp, + strand
From NCBI annotation of GRCm38

  37015 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:287  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Slc12a3

Human
homologs
Human Homolog SLC12A3, solute carrier family 12 (sodium/chloride transporter), member 3
NCBI Gene ID 6559
neXtProt AC  NX_P55017
Human Synonyms  NCC, NCCT, TSC
Human Chr (Location)  16q13; chr16:56865207-56915850 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SLC12A3
Alleles
and
phenotypes
All alleles(4) : Targeted(4)
 
Mice homozygous for a knock-out allele exhibit hypomagnesemia, hypocalciurua and abnormal renal distal convoluted tubule morphology, and show significantly reduced arterial blood pressure on a sodium-depleted diet. Mutant kidney cortical collecting ducts display thiazide-sensitive NaCl absorption.
 
Human Diseases Modeled Using Mouse Slc12a3 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process chloride transmembrane transport, chloride transport, ...
Component apical plasma membrane, cytosol, ...
Function cation:chloride symporter activity, sodium:chloride symporter activity, ...
External Resources: FuncBase
Expression
Literature Summary: (23 records)
Data Summary: Results (274)    Tissues (142)    Images (5)
Theiler Stages: 22, 23, 26, 28
Assay TypeResults
Immunohistochemistry 22
RNA in situ 234
Western blot 18
cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(18) cDNA(16) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000031766 (Evidence)
Entrez Gene20497 (Evidence)
DFCITC1582735, TC1616997, TC1690294
DoTSDT.101725466, DT.101725468, DT.40167262, DT.481097
NIA Mouse Gene IndexU009663, U368281
Consensus CDS ProjectCCDS57632.1
International Mouse Knockout Project StatusSlc12a3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 20497 NCBI Gene Model | MGI Sequence Detail 37015 C57BL/6J ±  kb
transcript NM_001205311 RefSeq | MGI Sequence Detail 3300 C57BL/6 
polypeptide P59158 UniProt | EBI | MGI Sequence Detail 1002 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(8) UniProt(3)
Polymorphisms RFLP(1) : SNPs within 2kb(239 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004841 Amino acid permease domain
InterPro IPR013612 Amino acid permease, N-terminal
InterPro IPR004842 Na/K/Cl co-transporter superfamily
InterPro IPR002948 Thiazide-sensitive Na-K-Cl co-transporter
Protein Ontology PR:000014926 solute carrier family 12 member 3
Graphical View of Protein Domain Structure
References (Earliest) J:19338 Gamba G, et al., Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J Biol Chem. 1994 Jul 1;269(26):17713-22
(Latest) J:206174 Shibata S, et al., Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia. Cell Metab. 2013 Nov 5;18(5):660-71
All references(83)
Other
accession IDs
MGD-MRK-37151, MGI:2142458

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory