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SLC24A2 solute carrier family 24 member 2 [ Homo sapiens (human) ]

Gene ID: 25769, updated on 9-Jul-2021

Summary

Official Symbol
SLC24A2provided by HGNC
Official Full Name
solute carrier family 24 member 2provided by HGNC
Primary source
HGNC:HGNC:10976
See related
Ensembl:ENSG00000155886 MIM:609838
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NCKX2
Summary
This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Expression
Restricted expression toward brain (RPKM 17.5) See more
Orthologs
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Genomic context

See SLC24A2 in Genome Data Viewer
Location:
9p22.1-p21.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (19507452..20307888, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (19507453..19789035, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13319 Neighboring gene uncharacterized LOC105375988 Neighboring gene microtubule associated protein 1 light chain 3 beta pseudogene 1 Neighboring gene chromosome 11 open reading frame 98 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 6135 Neighboring gene CDC like kinase 3 pseudogene 1 Neighboring gene glutaredoxin 3 pseudogene 1 Neighboring gene MLLT3 super elongation complex subunit Neighboring gene survival of motor neuron 1, telomeric pseudogene Neighboring gene microRNA 4473

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
GeneReviews: Not available
Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45149

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium, potassium:sodium antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium, potassium:sodium antiporter activity IDA
Inferred from Direct Assay
more info
PubMed 
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
involved_in anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion import IDA
Inferred from Direct Assay
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
PubMed 
involved_in calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within cellular calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to high light intensity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cone photoresponse recovery ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ion transport TAS
Traceable Author Statement
more info
 
involved_in learning IEA
Inferred from Electronic Annotation
more info
 
involved_in long-term synaptic depression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in long-term synaptic potentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in memory IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of phototransduction 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 protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in photoreceptor inner segment ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in spanning component of plasma membrane RCA
inferred from Reviewed Computational Analysis
more info
PubMed 

General protein information

Preferred Names
sodium/potassium/calcium exchanger 2
Names
Na(+)/K(+)/Ca(2+)-exchange protein 2
retinal cone Na-Ca+K exchanger
solute carrier family 24 (sodium/potassium/calcium exchanger), member 2

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.

Genomic

  1. NG_029734.1 RefSeqGene

    Range
    2983..284565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193288.3NP_001180217.1  sodium/potassium/calcium exchanger 2 isoform 2

    See identical proteins and their annotated locations for NP_001180217.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. Variants 2 and 4 encode the same isoform.
    Source sequence(s)
    AL133281, AL158077, AL158206
    Consensus CDS
    CCDS55297.1
    UniProtKB/Swiss-Prot
    Q9UI40
    Related
    ENSP00000286344.3, ENST00000286344.3
    Conserved Domains (1) summary
    TIGR00927
    Location:115644
    2A1904; K+-dependent Na+/Ca+ exchanger
  2. NM_001375850.1NP_001362779.1  sodium/potassium/calcium exchanger 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL133281, AL158077, AL158206
    Conserved Domains (1) summary
    TIGR00927
    Location:115661
    2A1904; K+-dependent Na+/Ca+ exchanger
  3. NM_001375851.1NP_001362780.1  sodium/potassium/calcium exchanger 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL133281, AL158077, AL158206
    Conserved Domains (1) summary
    TIGR00927
    Location:115644
    2A1904; K+-dependent Na+/Ca+ exchanger
  4. NM_020344.4NP_065077.1  sodium/potassium/calcium exchanger 2 isoform 1

    See identical proteins and their annotated locations for NP_065077.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Variants 1 and 3 encode the same isoform.
    Source sequence(s)
    AL133281, AL158077, AL158206
    Consensus CDS
    CCDS6493.1
    UniProtKB/Swiss-Prot
    Q9UI40
    Related
    ENSP00000344801.1, ENST00000341998.6
    Conserved Domains (1) summary
    TIGR00927
    Location:115661
    2A1904; K+-dependent Na+/Ca+ exchanger

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    19507452..20307888 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014592.1XP_016870081.1  sodium/potassium/calcium exchanger 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9UI40
    Conserved Domains (1) summary
    TIGR00927
    Location:115661
    2A1904; K+-dependent Na+/Ca+ exchanger
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