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Slc12a6 solute carrier family 12, member 6 [ Mus musculus (house mouse) ]

Gene ID: 107723, updated on 22-May-2022

Summary

Official Symbol
Slc12a6provided by MGI
Official Full Name
solute carrier family 12, member 6provided by MGI
Primary source
MGI:MGI:2135960
See related
Ensembl:ENSMUSG00000027130 Ensembl:ENSMUSG00000096764 AllianceGenome:MGI:2135960
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
KCC3; gaxp; 9530023I19Rik
Summary
Enables protein kinase binding activity. Predicted to be involved in several processes, including cellular hypotonic salinity response; inorganic ion homeostasis; and inorganic ion transmembrane transport. Located in axon and basolateral plasma membrane. Is expressed in olfactory epithelium; spiral ligament; telencephalon ventricular layer; and vomeronasal organ. Used to study agenesis of the corpus callosum with peripheral neuropathy and motor peripheral neuropathy. Human ortholog(s) of this gene implicated in agenesis of the corpus callosum with peripheral neuropathy. Orthologous to human SLC12A6 (solute carrier family 12 member 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 21.4), thymus adult (RPKM 18.0) and 28 other tissues See more
Orthologs
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Genomic context

See Slc12a6 in Genome Data Viewer
Location:
2; 2 E3
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (112096659..112193508)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (112266314..112363163)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (112106471..112203320)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene NUT midline carcinoma, family member 1 Neighboring gene NOP10 ribonucleoprotein Neighboring gene predicted gene, 39908 Neighboring gene ER membrane protein complex subunit 4 Neighboring gene katanin p80 subunit B like 1 Neighboring gene ER membrane protein complex subunit 7

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ammonium transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables potassium ion transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables potassium:chloride symporter activity ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in ammonium import across plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in cell volume homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular hypotonic response ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular hypotonic salinity response ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to glucose stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ion transport ISO
Inferred from Sequence Orthology
more info
 
involved_in potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion import across plasma membrane ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
NOT located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
solute carrier family 12 member 6
Names
K-Cl cotransporter 3
electroneutral potassium-chloride cotransporter 3

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001362700.1NP_001349629.1  solute carrier family 12 member 6 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL683897, AL713853
    Related
    ENSMUSP00000124314.2, ENSMUST00000141047.2
    Conserved Domains (1) summary
    TIGR00930
    Location:941135
    2a30; K-Cl cotransporter
  2. NM_133648.2NP_598409.2  solute carrier family 12 member 6 isoform 1

    See identical proteins and their annotated locations for NP_598409.2

    Status: VALIDATED

    Source sequence(s)
    AK133006, AL683897, BC036323, BC051061
    Consensus CDS
    CCDS16552.1
    UniProtKB/TrEMBL
    Q3V0N8
    Related
    ENSMUSP00000051490.8, ENSMUST00000053666.8
    Conserved Domains (3) summary
    TIGR00930
    Location:581099
    2a30; K-Cl cotransporter
    pfam03522
    Location:7231099
    SLC12; Solute carrier family 12
    cl00456
    Location:158309
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. NM_133649.2NP_598410.2  solute carrier family 12 member 6 isoform 2

    See identical proteins and their annotated locations for NP_598410.2

    Status: VALIDATED

    Source sequence(s)
    AK133006, BC036323, BC051061
    Consensus CDS
    CCDS16551.1
    UniProtKB/Swiss-Prot
    Q924N4
    UniProtKB/TrEMBL
    Q3V0N8
    Related
    ENSMUSP00000028549.8, ENSMUST00000028549.14
    Conserved Domains (3) summary
    TIGR00930
    Location:1091150
    2a30; K-Cl cotransporter
    pfam03522
    Location:7741150
    SLC12; Solute carrier family 12
    cl00456
    Location:209360
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    112096659..112193508
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006498546.5XP_006498609.1  solute carrier family 12 member 6 isoform X1

    Conserved Domains (1) summary
    TIGR00930
    Location:431084
    2a30; K-Cl cotransporter