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Slc12a1
Gene Detail
 Symbol
Name
ID
Slc12a1
solute carrier family 12, member 1
MGI:103150
Synonyms D630042G03Rik, mBSC1, Nkcc2, urehr3
Feature Type protein coding gene
Genetic Map
Chromosome 2
61.23 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr2:125152505-125230002 bp, + strand
From VEGA annotation of GRCm38

  77498 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:286  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Slc12a1

Human
homologs
Human Homolog SLC12A1, solute carrier family 12 (sodium/potassium/chloride transporter), member 1
NCBI Gene ID 6557
neXtProt AC  NX_Q13621
Human Synonyms  BSC1, NKCC2
Human Chr (Location)  15q15-q21.1; chr15:48206301-48304078 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SLC12A1
Alleles
and
phenotypes
All alleles(5) : Chemically induced (ENU)(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations.
 
Human Diseases Modeled Using Mouse Slc12a1 (1)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process chemical homeostasis, chloride transmembrane transport, ...
Component apical plasma membrane, cell surface, ...
Function cation:chloride symporter activity, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (24 records)
Data Summary: Results (237)    Tissues (195)    Images (11)
Theiler Stages: 22, 23, 26, 28
Assay TypeResults
Immunohistochemistry 6
RNA in situ 215
Western blot 16
cDNA source data(110)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(115) Genomic(2) cDNA(110) Primer pair(3)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000015338 (Evidence)
Ensembl Gene ModelENSMUSG00000027202 (Evidence)
Entrez Gene20495 (Evidence)
UniGene3914
DFCITC1577547, TC1592334, TC1596885, TC1614493, TC1650143, TC1675594
DoTSDT.101380168, DT.101380169, DT.489931, DT.55282684, DT.60118458, DT.94131959
NIA Mouse Gene IndexU002406
Consensus CDS ProjectCCDS50693.1, CCDS50694.1
International Mouse Knockout Project StatusSlc12a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015338 VEGA Gene Model | MGI Sequence Detail 77498 C57BL/6J ±  kb
transcript OTTMUST00000036349 VEGA | MGI Sequence Detail 4642 Not Applicable 
polypeptide OTTMUSP00000016335 VEGA | MGI Sequence Detail 1090 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(5) UniProt(4)
Polymorphisms All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs within 2kb(399 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004841 Amino acid permease domain
InterPro IPR013612 Amino acid permease, N-terminal
InterPro IPR002443 Na/K/Cl co-transporter
InterPro IPR002445 Na/K/Cl co-transporter 2
InterPro IPR004842 Na/K/Cl co-transporter superfamily
Protein Ontology PR:000014924 solute carrier family 12 member 1
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:202042 Schiebetal IM, et al., Dietary salt intake modulates differential splicing of the Na-K-2Cl cotransporter NKCC2. Am J Physiol Renal Physiol. 2013 Oct;305(8):F1139-48
All references(78)
Other
accession IDs
MGD-MRK-24016, MGI:2139049, MGI:2444968, MGI:3712273

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
07/15/2014
MGI 5.18
The Jackson Laboratory