Slc12a7 solute carrier family 12, member 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc12a7provided by MGI
Official Full Name: solute carrier family 12, member 7provided by MGI
Primary source: MGI:MGI:1342283
See related: Ensembl:ENSMUSG00000017756 AllianceGenome:MGI:1342283
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: Kcc4; D13Ertd261e
Summary: Enables ammonium transmembrane transporter activity and cation:chloride symporter activity. Involved in ammonium import across plasma membrane. Acts upstream of or within chloride transmembrane transport. Located in plasma membrane. Is expressed in vestibulo-cochlear ganglion. Orthologous to human SLC12A7 (solute carrier family 12 member 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 62.1), heart adult (RPKM 48.1) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C1; 13 40.15 cM

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (73881172..73964873)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (73733052..73816754)

Chromosome 13 - NC_000079.7 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?

During cell swelling PP1alpha and PP1gamma1 are involved in KCC4 regulation by WNK4, but that the kinase acts upon these phosphatases to inhibit their activity.
Title: Phosphoregulation of K(+) -Cl(-) cotransporters during cell swelling: Novel insights.
Data are consistent with a role for KCC4 in salt reabsorption of the thick ascending loop of Henle's loop and acid secretion of the collecting duct.
Title: Molecular evidence for a role for K(+)-Cl(-) cotransporters in the kidney.
We propose that glycosylation is essential for the surface expression, stabilization, and bioactivity of KCC4
Title: Glycosylation regulates the function and membrane localization of KCC4.
KCC3 is the dominant isoform in erythrocytes, with variable expression of KCC1 and KCC4 that could result in modulation of KCC activity
Title: K-Cl cotransporter gene expression during human and murine erythroid differentiation.
KCC4 and H+,K+-ATPase are the main machineries for basal HCl secretion in the apical canalicular membrane of the resting parietal cell. They also may contribute in part to massive acid secretion in the stimulated state.
Title: Functional association between K+-Cl- cotransporter-4 and H+,K+-ATPase in the apical canalicular membrane of gastric parietal cells.
Ste20-related proline-alanine-rich kinase (SPAK) and oxidative stress response 1 (OSR1) with the cotransporters KCC3, NKCC1, and NKCC2 but not KCC1 and KCC4
Title: Cation chloride cotransporters interact with the stress-related kinases Ste20-related proline-alanine-rich kinase (SPAK) and oxidative stress response 1 (OSR1).
Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4
Title: Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.
all of the CCCs examined (NKCC1, NKCC2, KCC1, KCC3, and KCC4) can promote NH4(+) translocation, presumably through binding of the ion at the K(+) site
Title: Ammonium transport and pH regulation by K(+)-Cl(-) cotransporters.
Mice lacking SLC12A7 function suffer from deafness and renal metabolic acidosis. The phenotype suggests a function in inner ear potassium recycling. A function in the proton secreting alpha-intercalating cells of the kidney is shown.
Title: Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

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Variation

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Alleles

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

Targeted (1) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

14.MHAa64f2.seq (e-PCR)
- UniSTS:123195

Slc12a7 (e-PCR), detects polymorphism
- UniSTS:546995

RH126747 (e-PCR)
- UniSTS:167103

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ammonium transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium:chloride symporter activity	IDA Inferred from Direct Assay more info	PubMed
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 import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in cell volume homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell volume homeostasis	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
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 monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation 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 transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: solute carrier family 12 member 7

Names: K-Cl cotransporter 4; electroneutral potassium-chloride cotransporter 4

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_001360694.1 → NP_001347623.1 solute carrier family 12 member 7 isoform 2

Status: VALIDATED

Source sequence(s)

CT030152

Conserved Domains (1) summary

cl27256
Location:45 → 1088

SLC12; Solute carrier family 12
NM_011390.2 → NP_035520.1 solute carrier family 12 member 7 isoform 1

See identical proteins and their annotated locations for NP_035520.1

Status: VALIDATED

Source sequence(s)

CT030152

Consensus CDS

CCDS26635.1

UniProtKB/Swiss-Prot

Q3TB23, Q3TDX1, Q3UE50, Q6KAS8, Q9WVL3

UniProtKB/TrEMBL

B9EIV8

Related

ENSMUSP00000017900.8, ENSMUST00000017900.9

Conserved Domains (2) summary

TIGR00930
Location:45 → 1083

2a30; K-Cl cotransporter

pfam03522
Location:709 → 1083

SLC12; Solute carrier family 12

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_000079.7 Reference GRCm39 C57BL/6J

Range

73881172..73964873

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006517170.4 → XP_006517233.1 solute carrier family 12 member 7 isoform X1

Conserved Domains (1) summary

TIGR00930
Location:74 → 1117

2a30; K-Cl cotransporter
XM_006517171.4 → XP_006517234.1 solute carrier family 12 member 7 isoform X2

Conserved Domains (1) summary

TIGR00930
Location:74 → 1112

2a30; K-Cl cotransporter
XM_006517175.2 → XP_006517238.1 solute carrier family 12 member 7 isoform X5

See identical proteins and their annotated locations for XP_006517238.1

Conserved Domains (1) summary

TIGR00930
Location:1 → 1020

2a30; K-Cl cotransporter
XM_006517173.3 → XP_006517236.1 solute carrier family 12 member 7 isoform X3

Conserved Domains (1) summary

TIGR00930
Location:20 → 1063

2a30; K-Cl cotransporter
XM_006517174.3 → XP_006517237.1 solute carrier family 12 member 7 isoform X4

Conserved Domains (1) summary

TIGR00930
Location:12 → 1055

2a30; K-Cl cotransporter