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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 Ensembl 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: SLC12A2
Gene Tree: Slc12a2

Human
homologs
SLC12A2, solute carrier family 12 (sodium/potassium/chloride transporter), member 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6558
neXtProt AC: NX_P55011

Human Synonyms: BSC, BSC2, NKCC1, PPP1R141

Human Chr (Location): 5q23.3; chr5:128083791-128189688 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(2) Radiation induced(1) Spontaneous(2) Targeted(7)
Genomic Mutations involving Slc12a2 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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)
Interactions
Slc12a2 interacts with 344 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (17 records)
Data Summary: Results (204)    Tissues (106)    Images (65)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 193
Northern blot 6
RT-PCR 5
cDNA source data(219)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase slc12a2 ; ZFIN slc12a2    NEW 
Molecular
reagents
All nucleic(226) Genomic(1) cDNA(220) Primer pair(4) Other(1)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000024597 (Evidence)
Entrez Gene 20496 (Evidence)
UniGene 399997
DFCI TC1600946, TC1644467
DoTS DT.492885
Consensus CDS Project CCDS37826.1
International Mouse Phenotyping Consortium Status Slc12a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024597 Ensembl Gene Model | MGI Sequence Detail 68144 C57BL/6J ±  kb
transcript ENSMUST00000115366 Ensembl | MGI Sequence Detail 6520 Not Applicable 
polypeptide ENSMUSP00000111023 Ensembl | MGI Sequence Detail 1206 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
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:209173 Kurtenbach S, et al., Olfaction in three genetic and two MPTP-induced Parkinson's disease mouse models. PLoS One. 2013;8(10):e77509
All references(102)
Other
accession IDs
MGD-MRK-18753

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
07/21/2015
MGI 5.22
The Jackson Laboratory