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Slc12a5
Gene Detail
Symbol

Name
ID
Slc12a5
solute carrier family 12, member 5
MGI:1862037
Synonyms
KCC2, mKIAA1176
Feature Type
protein coding gene
Genetic Map
Chromosome 2
85.28 cM, cytoband G2-G3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr2:164960816-164999727 bp, + strand
From VEGA annotation of GRCm38

  38912 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10665  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: SLC12A5
Gene Tree: Slc12a5

Human
homologs
SLC12A5, solute carrier family 12 (potassium/chloride transporter), member 5
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 57468
neXtProt AC: NX_Q9H2X9

Human Synonyms: KCC2

Human Chr (Location): 20q13.12; chr20:46021690-46060150 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for disruptions in this gene die within a few minutes of birth of respiratory failure resulting from a motor nerve defect. Mice homozygous for a hypomorphic allele display postnatal lethality and tonic-clonic seizures.
 
Interactions
Slc12a5 interacts with 287 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (24 records)
Data Summary: Results (157)    Tissues (44)    Images (38)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 153
RT-PCR 4
cDNA source data(83)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase slc12a5 ; ZFIN slc12a5b    NEW 
Molecular
reagents
All nucleic(91) Genomic(5) cDNA(83) Primer pair(3)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000019699 (Evidence)
Ensembl Gene Model ENSMUSG00000017740 (Evidence)
Entrez Gene 57138 (Evidence)
UniGene 252987
DFCI TC1654271, TC1605874, TC1574615, TC1658398
DoTS DT.101400236, DT.101353454, DT.101122088, DT.110657038, DT.55204728
NIA Mouse Gene Index U360279, U002825
Consensus CDS Project CCDS38332.1
International Mouse Phenotyping Consortium Status Slc12a5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019699 VEGA Gene Model | MGI Sequence Detail 38912 C57BL/6J ±  kb
transcript OTTMUST00000002164 VEGA | MGI Sequence Detail 6024 Not Applicable 
polypeptide OTTMUSP00000001056 VEGA | MGI Sequence Detail 1115 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(6) UniProt(7)
Polymorphisms
SNPs within 2kb(107 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004841 Amino acid permease domain
InterPro IPR000076 K-Cl co-transporter
InterPro IPR004842 Na/K/Cl co-transporter superfamily
Protein Ontology PR:000014928 solute carrier family 12 member 5
References
(Earliest) J:63901 Haapa S, et al., An efficient DNA sequencing strategy based on the bacteriophage mu in vitro DNA transposition reaction. Genome Res. 1999 Mar;9(3):308-15
(Latest) J:216536 Puskarjov M, et al., A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. EMBO Rep. 2014 Jun;15(6):723-9
All references(71)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory