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

Gene ID: 57419, updated on 22-Aug-2020

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
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

Genomic context

See SLC24A3 in Genome Data Viewer
Location:
20p11.23
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (19212642..19722926)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (19193290..19703541)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724734 Neighboring gene uncharacterized LOC107985442 Neighboring gene uncharacterized LOC101929547 Neighboring gene SLC24A3 antisense RNA 1 Neighboring gene translation initiation factor IF-2 Neighboring gene cutaneous T cell lymphoma-associated antigen 1 pseudogene Neighboring gene Ras and Rab interactor 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels.
GeneReviews: Not available
Genome-wide association study of atypical psychosis.
GeneReviews: Not available
Genome-wide association study of lung function decline in adults with and without asthma.
GeneReviews: Not available
Genome-wide association study of smoking behaviours in patients with COPD.
GeneReviews: Not available

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium, potassium:sodium antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium, potassium:sodium antiporter activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium, potassium:sodium antiporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
bone mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
ion transport TAS
Traceable Author Statement
more info
 
negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
cell periphery ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
spanning component of plasma membrane RCA
inferred from Reviewed Computational Analysis
more info
PubMed 

General protein information

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)

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)

  1. NM_020689.4NP_065740.2  sodium/potassium/calcium exchanger 3 precursor

    See identical proteins and their annotated locations for NP_065740.2

    Status: VALIDATED

    Source sequence(s)
    AL034425, AL049647, AL121761, AL121830, AL136090, AL139429
    Consensus CDS
    CCDS13140.1
    UniProtKB/Swiss-Prot
    Q9HC58
    Related
    ENSP00000333519.5, ENST00000328041.11
    Conserved Domains (2) summary
    TIGR00367
    Location:112605
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:113255
    Na_Ca_ex; Sodium/calcium exchanger protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    19212642..19722926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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