Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc24a4provided by MGI
Official Full Name: solute carrier family 24 (sodium/potassium/calcium exchanger), member 4provided by MGI
Primary source: MGI:MGI:2447362
See related: Ensembl:ENSMUSG00000041771 AllianceGenome:MGI:2447362
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: NCKX4; A930002M03Rik
Summary: Enables calcium, potassium:sodium antiporter activity; calcium-dependent protein binding activity; and calmodulin binding activity. Involved in several processes, including calcium ion transmembrane transport; cellular response to high light intensity; and cone photoresponse recovery. Acts upstream of or within positive regulation of gene expression. Located in several cellular components, including cone photoreceptor outer segment; plasma membrane; and vesicle. Is active in apical plasma membrane. Is expressed in several structures, including central nervous system; eye; stomach; testis; and thymus. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A5 and pigmentation disease. Orthologous to human SLC24A4 (solute carrier family 24 member 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lung adult (RPKM 8.7), cortex adult (RPKM 5.6) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 E; 12 51.42 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (102094986..102239562)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (102128727..102267133)

Chromosome 12 - NC_000078.7 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 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?

Odor sampling strategies in mice with genetically altered olfactory responses.
Title: Odor sampling strategies in mice with genetically altered olfactory responses.
Thus, despite its relative abundance in the lens, Nckx4 does not appear to have an indispensable role in the maintenance of lens clarity.
Title: Expression of potassium-dependent sodium-calcium exchanger in the murine lens.
The authors show that NCKX4 shapes the cone photoresponse together with the cone-specific NCKX2: NCKX4 acts early to limit response amplitude, while NCKX2 acts late to further accelerate response recovery. The regulation of Ca(2+) by NCKX4 in cones is a novel mechanism that supports their ability to function as daytime photoreceptors and promotes their survival.
Title: The Na(+)/Ca(2+), K(+) exchanger NCKX4 is required for efficient cone-mediated vision.
immunostaining of the apical plasma membranes of fluorotic ameloblasts was strongly reduced or absent suggesting that trafficking of NCKX4 to the apical membrane was strongly reduced
Title: Reduced Protein Expression of the Na(+)/Ca(2+)+K(+)-Exchanger (SLC24A4) in Apical Plasma Membranes of Maturation Ameloblasts of Fluorotic Mice.
olfactory sensory neurons in NCKX4(-/-);CNGB1(DeltaCaM) mice displayed markedly reduced electro-olfactogram amplitude accompanied by alterations in other response attributes
Title: Simultaneous Loss of NCKX4 and CNG Channel Desensitization Impairs Olfactory Sensitivity.
pigment cells express robust, functional NCKX4 activity
Title: Identification and Characterization of K(+)-Dependent Na(+)-Ca(2+) Exchange Transport in Pigmented MEB4 Cells Mediated by NCKX4.
These findings highlight an essential, and to our knowledge previously unknown, role for Ca(2+) signaling in the MC4R pathway that leads to satiety, and a novel non-redundant role for NCKX4-mediated Ca(2+) extrusion in controlling MC4R signaling
Title: An essential role for the K+-dependent Na+/Ca2+-exchanger, NCKX4, in melanocortin-4-receptor-dependent satiety.
NCKX4 activity is stimulated by ATP through activation of the P2Y receptor signalling pathway.
Title: Purinergic stimulation of K+-dependent Na+/Ca2+ exchanger isoform 4 requires dual activation by PKC and CaMKII.
NCKX4 might be an important regulator of Ca(2+) transport during amelogenesis.
Title: Expression of the sodium/calcium/potassium exchanger, NCKX4, in ameloblasts.
These findings support a key role for SLC24A4 in calcium transport during enamel formation.
Title: Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Chemically induced (ENU) (1)
Spontaneous (1) 1 citation
Targeted (4) 1 citation

General gene information

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Markers

UniSTS:224816 (e-PCR)
- UniSTS:224816

BF392535 (e-PCR)
- UniSTS:243540

D12Mit277 (e-PCR), detects polymorphism
- UniSTS:126836

Slc24a4 (e-PCR), detects polymorphism
- UniSTS:547029

AW492432 (e-PCR)
- UniSTS:180454

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium, potassium:sodium antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium, potassium:sodium antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium, potassium:sodium antiporter activity	ISA Inferred from Sequence Alignment more info	PubMed
enables calcium, potassium:sodium antiporter activity	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium:sodium antiporter activity	ISA Inferred from Sequence Alignment more info	PubMed
enables calmodulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in amelogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in cellular response to high light intensity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cone photoresponse recovery	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of chemical stimulus involved in sensory perception of smell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of drinking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intracellular calcium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in membrane repolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of calcium-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of olfactory nerve maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of phototransduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of regulation of G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of regulation of eating behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of response to melanocyte-stimulating hormone	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to odorant	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of smell	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory perception of smell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cone photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sodium/potassium/calcium exchanger 4

Names: K-dependent Na/Ca exchanger NCKX4; Na(+)/K(+)/Ca(2+)-exchange protein 4; solute carrier family 24 member 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_001362345.2 → NP_001349274.1 sodium/potassium/calcium exchanger 4 isoform 2

Status: VALIDATED

Source sequence(s)

AC130838, AC139330, LXEJ02009442

UniProtKB/TrEMBL

F7B0S9

Related

ENSMUSP00000125012.2, ENSMUST00000161325.2

Conserved Domains (1) summary

cl27511
Location:80 → 587

Na_Ca_ex; Sodium/calcium exchanger protein
NM_172152.4 → NP_742164.2 sodium/potassium/calcium exchanger 4 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC130838, AC139330, LXEJ02009442

Consensus CDS

CCDS26117.2

UniProtKB/Swiss-Prot

Q8BLL5, Q8BLL7, Q8CGQ8

UniProtKB/TrEMBL

A0A0R4J0Z4

Related

ENSMUSP00000078030.6, ENSMUST00000079020.12

Conserved Domains (1) summary

cl27511
Location:80 → 606

Na_Ca_ex; Sodium/calcium exchanger protein