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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

HCOP human homology predictions: SLC12A3
Gene Tree: Slc12a3

Human
homologs
SLC12A3, solute carrier family 12 (sodium/chloride transporter), member 3
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6559
neXtProt AC: NX_P55017

Human Synonyms: NCC, NCCT, TSC

Human Chr (Location): 16q13; chr16:56865207-56915850 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SLC12A3

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Slc12a3 (1)    Mutations 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: (27 annotations)
Process chloride transmembrane transport, chloride transport, ...
Component apical plasma membrane, cytosol, ...
Function cation:chloride symporter activity, enzyme binding, ...
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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase slc12a3, slc12a3.2    NEW 
Molecular
reagents
All nucleic(18) cDNA(16) Primer pair(1) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000031766 (Evidence)
Entrez Gene 20497 (Evidence)
DFCI TC1616997, TC1690294, TC1582735
DoTS DT.101725468, DT.101725466, DT.481097, DT.40167262
NIA Mouse Gene Index U009663, U368281
Consensus CDS Project CCDS57632.1
International Mouse Phenotyping Consortium Status Slc12a3
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(30) RefSeq(5) 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
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:219977 Terker AS, et al., Potassium modulates electrolyte balance and blood pressure through effects on distal cell voltage and chloride. Cell Metab. 2015 Jan 6;21(1):39-50
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
06/23/2015
MGI 5.22
The Jackson Laboratory