About   Help   FAQ
Slc12a2
Gene Detail
 Symbol
Name
ID
Slc12a2
solute carrier family 12, member 2
MGI:101924
Synonyms mBSC2, Nkcc1, sodium/potassium/chloride cotransporters, sy-ns
Feature Type protein coding gene
Genetic Map
Chromosome 18
32.15 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr18:57878678-57946821 bp, + strand
From NCBI annotation of GRCm38

  68144 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20283  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Slc12a2

Human
homologs
Human Homolog SLC12A2, solute carrier family 12 (sodium/potassium/chloride transporter), member 2
NCBI Gene ID 6558
neXtProt AC  NX_P55011
Human Synonyms  BSC, BSC2, NKCC1, PPP1R141
Human Chr (Location)  5q23.3; chr5:128083791-128189688 (+)  GRCh38
Alleles
and
phenotypes
All alleles(11) : Gene trapped(2) Spontaneous(2) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality.
 
Phenotype Images(6)
Gene Ontology
(GO)
classifications
All GO classifications: (35 annotations)
Process ammonium transmembrane transport, ammonium transport, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function ammonium transmembrane transporter activity, cation:chloride symporter activity, ...
External Resources: FuncBase
Expression
Literature Summary: (17 records)
Data Summary: Results (204)    Tissues (101)    Images (65)
Theiler Stages: 20, 21, 22, 23, 24, 26, 28
Assay TypeResults
RNA in situ 193
Northern blot 6
RT-PCR 5
cDNA source data(219)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(226) Genomic(1) cDNA(220) Primer pair(4) Other(1)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000024597 (Evidence)
Entrez Gene20496 (Evidence)
UniGene399997
DFCITC1600946, TC1644467
DoTSDT.492885
Consensus CDS ProjectCCDS37826.1
International Mouse Knockout Project StatusSlc12a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 20496 NCBI Gene Model | MGI Sequence Detail 68144 C57BL/6J ±  kb
transcript NM_009194 RefSeq | MGI Sequence Detail 6520 C57BL/6 
polypeptide P55012 UniProt | EBI | MGI Sequence Detail 1205 Not Applicable 

For the selected sequences
All sequences(28) RefSeq(5) UniProt(3)
Polymorphisms PCR(1) : SNPs within 2kb(451 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 IPR002444 Na/K/Cl co-transporter 1
InterPro IPR004842 Na/K/Cl co-transporter superfamily
Protein Ontology PR:000014925 solute carrier family 12 member 2
Graphical View of Protein Domain Structure
References (Earliest) J:21042 Delpire E, et al., Molecular cloning and chromosome localization of a putative basolateral Na(+)-K(+)-2Cl- cotransporter from mouse inner medullary collecting duct (mIMCD-3) cells. J Biol Chem. 1994 Oct 14;269(41):25677-83
(Latest) J:201156 Antoine MW, et al., A causative link between inner ear defects and long-term striatal dysfunction. Science. 2013 Sep 6;341(6150):1120-3
All references(103)
Other
accession IDs
MGD-MRK-18753

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/15/2014
MGI 5.18
The Jackson Laboratory