Slc12a5 solute carrier family 12, member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc12a5provided by MGI
Official Full Name: solute carrier family 12, member 5provided by MGI
Primary source: MGI:MGI:1862037
See related: Ensembl:ENSMUSG00000017740 AllianceGenome:MGI:1862037
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: KCC2; mKIAA1176
Summary: Enables potassium:chloride symporter activity. Acts upstream of or within several processes, including chloride transport; learning; and thermosensory behavior. Located in dendritic shaft; neuronal cell body; and plasma membrane. Is expressed in several structures, including central nervous system and retina. Used to study epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 34 and idiopathic generalized epilepsy 14. Orthologous to human SLC12A5 (solute carrier family 12 member 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 71.6), cortex adult (RPKM 67.7) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H3; 2 85.28 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (164802766..164841651)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (164960846..164999731)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Constitutive KCC2 Cell- and Synapse-Specifically Regulates NMDA Receptor Activity in the Spinal Cord.
Title: Constitutive KCC2 Cell- and Synapse-Specifically Regulates NMDA Receptor Activity in the Spinal Cord.
BDNF-TrkB signaling pathway-mediated microglial activation induces neuronal KCC2 downregulation contributing to dynamic allodynia following spared nerve injury.
Title: BDNF-TrkB signaling pathway-mediated microglial activation induces neuronal KCC2 downregulation contributing to dynamic allodynia following spared nerve injury.
CRISPR-Based KCC2 Upregulation Attenuates Drug-Resistant Seizure in Mouse Models of Epilepsy.
Title: CRISPR-Based KCC2 Upregulation Attenuates Drug-Resistant Seizure in Mouse Models of Epilepsy.
Silencing KCC2 in mouse dorsal hippocampus compromises spatial and contextual memory.
Title: Silencing KCC2 in mouse dorsal hippocampus compromises spatial and contextual memory.
KCC2 downregulation after sciatic nerve injury enhances motor function recovery.
Title: KCC2 downregulation after sciatic nerve injury enhances motor function recovery.
Emergence of consciousness from anesthesia through ubiquitin degradation of KCC2 in the ventral posteromedial nucleus of the thalamus.
Title: Emergence of consciousness from anesthesia through ubiquitin degradation of KCC2 in the ventral posteromedial nucleus of the thalamus.
Therapeutic effects of KCC2 chloride transporter activation on detrusor overactivity in mice with spinal cord injury.
Title: Therapeutic effects of KCC2 chloride transporter activation on detrusor overactivity in mice with spinal cord injury.
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.
Neonatal inflammation increases hippocampal KCC2 expression through methylation-mediated TGF-beta1 downregulation leading to impaired hippocampal cognitive function and synaptic plasticity in adult mice.
Title: Neonatal inflammation increases hippocampal KCC2 expression through methylation-mediated TGF-β1 downregulation leading to impaired hippocampal cognitive function and synaptic plasticity in adult mice.
TGF-beta2 Regulates Transcription of the K[+]/Cl[-] Cotransporter 2 (KCC2) in Immature Neurons and Its Phosphorylation at T1007 in Differentiated Neurons.
Title: TGF-β2 Regulates Transcription of the K(+)/Cl(-) Cotransporter 2 (KCC2) in Immature Neurons and Its Phosphorylation at T1007 in Differentiated Neurons.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Variation

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Alleles

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

Targeted (10) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Slc12a5 (e-PCR), detects polymorphism
- UniSTS:496554

Slc12a5 (e-PCR), detects polymorphism
- UniSTS:547309

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ammonium transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables chloride transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables chloride:monoatomic cation symporter activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables potassium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium:chloride symporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables potassium:chloride symporter activity	ISO Inferred from Sequence Orthology more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables symporter activity	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ammonium transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in cell volume homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chemical synaptic transmission	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
acts_upstream_of_or_within chloride transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride transport	ISO Inferred from Sequence Orthology more info
involved_in dendritic spine development	ISO Inferred from Sequence Orthology more info
involved_in hypotonic response	ISO Inferred from Sequence Orthology more info
involved_in intracellular chloride ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular pH reduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within learning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
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 transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within thermosensory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
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	IEA Inferred from Electronic Annotation more info
located_in dendrite membrane	ISO Inferred from Sequence Orthology more info
located_in 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
located_in perikaryon	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic specialization membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: solute carrier family 12 member 5

Names: K-Cl cotransporter 2; electroneutral potassium-chloride cotransporter 2; mKCC2; neuronal K-Cl cotransporter

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_001355480.1 → NP_001342409.1 solute carrier family 12 member 5 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL591495, KJ535321

Consensus CDS

CCDS89581.1

UniProtKB/Swiss-Prot

A2A5L0, Q3UHQ2, Q7TQC9, Q80TI5, Q91V14, Q9Z0M7

UniProtKB/TrEMBL

A0A076FRG6

Related

ENSMUSP00000144623.2, ENSMUST00000202623.4

Conserved Domains (1) summary

TIGR00930
Location:44 → 1138

2a30; K-Cl cotransporter
NM_001355481.1 → NP_001342410.1 solute carrier family 12 member 5 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL591495, KJ535320

Consensus CDS

CCDS89582.1

UniProtKB/TrEMBL

A0A076FR46

Related

ENSMUSP00000143870.2, ENSMUST00000202223.4

Conserved Domains (1) summary

TIGR00930
Location:44 → 1133

2a30; K-Cl cotransporter
NM_020333.2 → NP_065066.2 solute carrier family 12 member 5 isoform 3

See identical proteins and their annotated locations for NP_065066.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AK147262, BC054808

Consensus CDS

CCDS38332.1

UniProtKB/TrEMBL

A0A076FSX1

Related

ENSMUSP00000096690.5, ENSMUST00000099092.8

Conserved Domains (2) summary

TIGR00930
Location:21 → 1115

2a30; K-Cl cotransporter

pfam03522
Location:689 → 1115

SLC12; Solute carrier family 12