SLC24A3 solute carrier family 24 member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC24A3provided by HGNC
Official Full Name: solute carrier family 24 member 3provided by HGNC
Primary source: HGNC:HGNC:10977
See related: Ensembl:ENSG00000185052 MIM:609839; AllianceGenome:HGNC:10977
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NCKX3
Summary: Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in endometrium (RPKM 17.0), esophagus (RPKM 12.0) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.23

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (19212642..19722926)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (19264159..19774968)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (19193286..19703570)

Chromosome 20 - NC_000020.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NCKX3 is abundantly expressed within the human endometrium at the transcriptional and translational levels, and its level is regulated by steroid hormones (particularly estradiol) during the human menstrual cycle.
Title: Distinct expression of the calcium exchangers, NCKX3 and NCX1, and their regulation by steroid in the human endometrium during the menstrual cycle.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Plasma membrane ion transporter.Displayed K(+)-dependent Na(+)/Ca(2+) exchanger activity when assayed in heterologous expression systems, using digital imaging of fura-2 fluorescence, electrophysiology, or radioactive (45)Ca(2+) uptake.
Title: Molecular cloning of a third member of the potassium-dependent sodium-calcium exchanger gene family, NCKX3.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of atypical psychosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of lung function decline in adults with and without asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of smoking behaviours in patients with COPD. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-81433 (e-PCR)
- UniSTS:103189

Z94526 (e-PCR)
- UniSTS:67101

RH120551 (e-PCR)
- UniSTS:132384

WI-11208 (e-PCR)
- UniSTS:40481

G18128 (e-PCR)
- UniSTS:12070

D20S804 (e-PCR)
- UniSTS:10280

Z94614 (e-PCR)
- UniSTS:57924

SHGC-77737 (e-PCR)
- UniSTS:170067

RH122289 (e-PCR)
- UniSTS:137816

SHGC-32038 (e-PCR)
- UniSTS:61272

D20S139 (e-PCR)
- UniSTS:148330

Z94601 (e-PCR)
- UniSTS:6251

A008U36 (e-PCR)
- UniSTS:43640

Z94352 (e-PCR)
- UniSTS:73856

AL031193 (e-PCR)
- UniSTS:28312

SHGC-77980 (e-PCR)
- UniSTS:101528

D20S40 (e-PCR)
- UniSTS:146865

SHGC-102685 (e-PCR)
- UniSTS:183491

AL031209 (e-PCR)
- UniSTS:42705

D20S1040 (e-PCR)
- UniSTS:33493

Z94345 (e-PCR)
- UniSTS:62421

Z94579 (e-PCR)
- UniSTS:25831

RH118679 (e-PCR)
- UniSTS:109292

Z94382 (e-PCR)
- UniSTS:13555

SHGC-81264 (e-PCR)
- UniSTS:102392

AL031192 (e-PCR)
- UniSTS:77818

Gene Ontology Provided by GOA

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	ISS Inferred from Sequence or Structural Similarity more info
enables calcium, potassium:sodium antiporter activity	TAS Traceable Author Statement more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within intracellular calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
acts_upstream_of_or_within negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in cell periphery	ISS Inferred from Sequence or Structural Similarity 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
located_in plasma membrane	RCA inferred from Reviewed Computational Analysis more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sodium/potassium/calcium exchanger 3

Names: Na(+)/K(+)/Ca(2+)-exchange protein 3; sodium calcium exchanger; solute carrier family 24 (sodium/potassium/calcium exchanger), member 3

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.