Slc12a2 solute carrier family 12, member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc12a2provided by MGI
Official Full Name: solute carrier family 12, member 2provided by MGI
Primary source: MGI:MGI:101924
See related: Ensembl:ENSMUSG00000024597 AllianceGenome:MGI:101924
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: BSC2; Nkcc1; mBSC2; sy-ns; mNKCC1; 9330166H04Rik
Summary: Enables potassium ion transmembrane transporter activity. Involved in several processes, including cellular response to lipopolysaccharide; cellular response to potassium ion; and inorganic ion transmembrane transport. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; mammary gland duct morphogenesis; and regulation of secretion by cell. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and neuronal cell body. Is expressed in several structures, including alimentary system; lung; metanephros; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 78 and middle cerebral artery infarction. Orthologous to human SLC12A2 (solute carrier family 12 member 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in mammary gland adult (RPKM 43.3), colon adult (RPKM 19.3) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 D3; 18 32.15 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (58011505..58079893)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (57878512..57946821)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Astrocytic NKCC1 inhibits seizures by buffering Cl[-] and antagonizing neuronal NKCC1 at GABAergic synapses.
Title: Astrocytic NKCC1 inhibits seizures by buffering Cl(-) and antagonizing neuronal NKCC1 at GABAergic synapses.
In vitro investigation of the effect of proinflammatory cytokines on mouse choroid plexus membrane transporters Ncbe and NKCC1.
Title: In vitro investigation of the effect of proinflammatory cytokines on mouse choroid plexus membrane transporters Ncbe and NKCC1.
Slc12a2 loss in insulin-secreting beta-cells links development of overweight and metabolic dysregulation to impaired satiation control of feeding.
Title: Slc12a2 loss in insulin-secreting β-cells links development of overweight and metabolic dysregulation to impaired satiation control of feeding.
Age-appropriate potassium clearance from perinatal cerebrospinal fluid depends on choroid plexus NKCC1.
Title: Age-appropriate potassium clearance from perinatal cerebrospinal fluid depends on choroid plexus NKCC1.
Expression patterns of NKCC1 in neurons and non-neuronal cells during cortico-hippocampal development.
Title: Expression patterns of NKCC1 in neurons and non-neuronal cells during cortico-hippocampal development.
Role of NKCC1 and KCC2 during hypoxia-induced neuronal swelling in the neonatal neocortex.
Title: Role of NKCC1 and KCC2 during hypoxia-induced neuronal swelling in the neonatal neocortex.
Beta-Amyloid (Abeta1-42) Increases the Expression of NKCC1 in the Mouse Hippocampus.
Title: Beta-Amyloid (Aβ(1-42)) Increases the Expression of NKCC1 in the Mouse Hippocampus.
The NKCC1 ion transporter modulates microglial phenotype and inflammatory response to brain injury in a cell-autonomous manner.
Title: The NKCC1 ion transporter modulates microglial phenotype and inflammatory response to brain injury in a cell-autonomous manner.
Restoring neuronal chloride homeostasis with anti-NKCC1 gene therapy rescues cognitive deficits in a mouse model of Down syndrome.
Title: Restoring neuronal chloride homeostasis with anti-NKCC1 gene therapy rescues cognitive deficits in a mouse model of Down syndrome.
Deletion of the Na-K-2Cl cotransporter NKCC1 results in a more severe epileptic phenotype in the intrahippocampal kainate mouse model of temporal lobe epilepsy.
Title: Deletion of the Na-K-2Cl cotransporter NKCC1 results in a more severe epileptic phenotype in the intrahippocampal kainate mouse model of temporal lobe epilepsy.

Submit: New GeneRIF Correction See all GeneRIFs (103)

Variation

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Alleles

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

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (6) 1 citation
Spontaneous (2) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Slc12a2 (e-PCR), detects polymorphism
- UniSTS:144412

D1S3698 (e-PCR)
- UniSTS:474276

Slc12a2 (e-PCR), detects polymorphism
- UniSTS:545984

U13174 (e-PCR)
- UniSTS:125677

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables Hsp90 protein binding	ISO Inferred from Sequence Orthology more info
enables ammonium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ammonium channel activity	ISO Inferred from Sequence Orthology more info
enables chloride:monoatomic cation symporter activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables potassium ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info
enables sodium:potassium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:potassium:chloride symporter activity	IC Inferred by Curator more info	PubMed
enables sodium:potassium:chloride symporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in T cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in T cell chemotaxis	ISO Inferred from Sequence Orthology more info
involved_in ammonium transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in ammonium transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within branching involved in mammary gland duct morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell volume homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell volume homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to chemokine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to chemokine	ISO Inferred from Sequence Orthology more info
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to potassium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in hyperosmotic response	ISO Inferred from Sequence Orthology more info
involved_in inorganic anion import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inorganic cation import across plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intracellular chloride ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular potassium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular sodium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within maintenance of blood-brain barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mammary duct terminal end bud growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of vascular wound healing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of aspartate secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell volume	ISO Inferred from Sequence Orthology more info
involved_in potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of matrix metallopeptidase secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of spontaneous synaptic transmission	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of spontaneous synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of spontaneous synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transport	ISO Inferred from Sequence Orthology more info
involved_in transepithelial ammonium transport	ISO Inferred from Sequence Orthology more info
involved_in transepithelial chloride transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
located_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in cell periphery	ISO Inferred from Sequence Orthology more info
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: solute carrier family 12 member 2

Names: Na-K-2Cl cotransporter 1; basolateral Na-K-Cl symporter; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; sodium/potassium/chloride cotransporters; sodium/potassium/chloride transporters

NCBI Reference Sequences (RefSeq)

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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)

NM_009194.3 → NP_033220.2 solute carrier family 12 member 2

Status: VALIDATED

Source sequence(s)

AC127678, CJ172807, CN711123, U13174

Consensus CDS

CCDS37826.1

UniProtKB/Swiss-Prot

E9PYU3, P55012

UniProtKB/TrEMBL

E9QM38

Related

ENSMUSP00000111023.3, ENSMUST00000115366.3

Conserved Domains (3) summary

TIGR00930
Location:210 → 1206

2a30; K-Cl cotransporter

pfam03522
Location:795 → 1206

SLC12; Solute carrier family 12

pfam08403
Location:196 → 257

AA_permease_N; Amino acid permease N-terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000084.7 Reference GRCm39 C57BL/6J

Range

58011505..58079893

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006525732.4 → XP_006525795.1 solute carrier family 12 member 2 isoform X1

UniProtKB/Swiss-Prot

E9PYU3, P55012

Conserved Domains (2) summary

PRK07764
Location:3 → 74

PRK07764; DNA polymerase III subunits gamma and tau; Validated

TIGR00930
Location:210 → 1190

2a30; K-Cl cotransporter