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

    Gene ID: 57419, updated on 3-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SLC24A3 in Genome Data Viewer
    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_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724734 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:19028509-19029708 Neighboring gene uncharacterized LOC107985442 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:19077722-19078921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12704 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:19188093-19188651 Neighboring gene uncharacterized LOC101929547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12705 Neighboring gene uncharacterized LOC124904879 Neighboring gene SLC24A3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17600 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:19477291-19478490 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:19496927-19497144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19563919-19564420 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:19600691-19601604 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:19658252-19659230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:19659231-19660207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19691947-19692447 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:19739291-19739865 Neighboring gene Sharpr-MPRA regulatory region 11499 Neighboring gene cutaneous T cell lymphoma-associated antigen 1 pseudogene Neighboring gene Ras and Rab interactor 2 Neighboring gene ribosomal protein L12 pseudogene 12

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Phenotypes

    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
    Genome-wide association study of atypical psychosis.
    EBI GWAS Catalog
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    NEW Try the new Transcript table

    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
      B1AKV7, Q9BQJ9, Q9BQL7, Q9BQY3, Q9H519, 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      19264159..19774968
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)