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 transporters), member 2
NCBI Gene ID		6558
neXtProt AC		NX_P55011
Human Synonyms		BSC, BSC2, NKCC1
Human Chr (Location)		5q23.3; chr5:127419483-127525380 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(9) : Targeted(6) Gene trapped(2) Spontaneous(1)
 

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: (32 annotations)

Process	ammonium transport, branching involved in mammary gland duct morphogenesis, ...
Component	apical plasma membrane, basolateral plasma membrane, ...
Function	ammonia transmembrane transporter activity, cation:chloride symporter activity, ...

External Resources: FuncBase

Expression

Literature Summary: (14 records)
Data Summary: Results (129)    Tissues (48)    Images (39)
Theiler Stages: 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	118
Northern blot	6
RT-PCR	5

cDNA source data(210)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(216) Genomic(1) cDNA(211) Primer pair(4)
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 Knockout Project Status	Slc12a2

Sequences

Length	Strain/Species
genomic	20496	NCBI Gene Model | MGI Sequence Detail	68144	C57BL/6J
transcript	NM_009194	RefSeq | MGI Sequence Detail	6520	C57BL/6
polypeptide	P55012	UniProt | EBI | MGI Sequence Detail	1205	Not Applicable

All sequences(25) RefSeq(2) UniProt(3)

Polymorphisms

PCR(1) : SNPs(424 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194953 Schobel N, et al., Trigeminal ganglion neurons of mice show intracellular chloride accumulation and chloride-dependent amplification of capsaicin-induced responses. PLoS One. 2012;7(11):e48005
All references(98)

Other accession IDs

MGD-MRK-18753