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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
Chr8:94329192-94366213 bp, + strand
From Ensembl annotation of GRCm38

  37022 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 western clawed frog; 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
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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)
Interactions
Slc12a3 interacts with 42 markers (Mir15a, Mir15b, Mir16-1, ...)
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: (24 records)
Data Summary: Results (274)    Tissues (142)    Images (5)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 22
RNA in situ 234
Western blot 18
cDNA source data(11)
External Resources: Allen Institute   GEO   Expression Atlas
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)
DFCITC1690294, TC1616997, TC1582735
DoTSDT.481097, DT.40167262, DT.101725468, DT.101725466
NIA Mouse Gene IndexU009663, U368281
Consensus CDS ProjectCCDS57632.1
International Mouse Knockout Project StatusSlc12a3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031766 Ensembl Gene Model | MGI Sequence Detail 37022 C57BL/6J ±  kb
transcript ENSMUST00000034218 Ensembl | MGI Sequence Detail 3307 Not Applicable 
polypeptide ENSMUSP00000034218 Ensembl | MGI Sequence Detail 1002 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(8) UniProt(5)
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
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:207318 Sinke AP, et al., Hydrochlorothiazide attenuates lithium-induced nephrogenic diabetes insipidus independently of the sodium-chloride cotransporter. Am J Physiol Renal Physiol. 2014 Mar;306(5):F525-33
All references(85)
Disease annotation references (2)
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
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory