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

Gene ID: 25769, updated on 2-Oct-2018

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; Vega:OTTHUMG00000019646
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

Genomic context

See SLC24A2 in Genome Data Viewer
Location:
9p22.1-p21.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (19507452..20307888, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (19507450..19789059, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375988 Neighboring gene microtubule associated protein 1 light chain 3 beta pseudogene 1 Neighboring gene alkaline ceramidase 2 Neighboring gene chromosome 11 open reading frame 98 pseudogene 1 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog
Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
NHGRI GWA Catalog

Pathways from BioSystems

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
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 TAS
Traceable Author Statement
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
learning IEA
Inferred from Electronic Annotation
more info
 
long-term synaptic depression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-term synaptic potentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
memory IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

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)

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
    5001..284568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193288.2NP_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.
    Source sequence(s)
    AF177987, AL133281, AL158206, BU736451, DQ067463
    Consensus CDS
    CCDS55297.1
    UniProtKB/Swiss-Prot
    Q9UI40
    Related
    ENSP00000286344.3, OTTHUMP00000021126, ENST00000286344.3, OTTHUMT00000051867
    Conserved Domains (2) summary
    TIGR00367
    Location:137626
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:138280
    Na_Ca_ex; Sodium/calcium exchanger protein
  2. NM_020344.3NP_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).
    Source sequence(s)
    AF097366, AL133281, AL158206, BU736451, DQ067463
    Consensus CDS
    CCDS6493.1
    UniProtKB/Swiss-Prot
    Q9UI40
    Related
    ENSP00000344801.1, OTTHUMP00000021125, ENST00000341998.6, OTTHUMT00000051866
    Conserved Domains (2) summary
    TIGR00367
    Location:137643
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:138280
    Na_Ca_ex; Sodium/calcium exchanger protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 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 (2) summary
    TIGR00367
    Location:137643
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:138280
    Na_Ca_ex; Sodium/calcium exchanger protein
  2. XM_005251426.4XP_005251483.1  sodium/potassium/calcium exchanger 2 isoform X1

    See identical proteins and their annotated locations for XP_005251483.1

    UniProtKB/Swiss-Prot
    Q9UI40
    Conserved Domains (2) summary
    TIGR00367
    Location:137643
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:138280
    Na_Ca_ex; Sodium/calcium exchanger protein
  3. XM_006716750.4XP_006716813.1  sodium/potassium/calcium exchanger 2 isoform X2

    See identical proteins and their annotated locations for XP_006716813.1

    UniProtKB/Swiss-Prot
    Q9UI40
    Conserved Domains (2) summary
    TIGR00367
    Location:137626
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:138280
    Na_Ca_ex; Sodium/calcium exchanger protein
  4. XM_017014593.1XP_016870082.1  sodium/potassium/calcium exchanger 2 isoform X2

    UniProtKB/Swiss-Prot
    Q9UI40
    Conserved Domains (2) summary
    TIGR00367
    Location:137626
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:138280
    Na_Ca_ex; Sodium/calcium exchanger protein
  5. XM_005251425.2XP_005251482.1  sodium/potassium/calcium exchanger 2 isoform X1

    See identical proteins and their annotated locations for XP_005251482.1

    UniProtKB/Swiss-Prot
    Q9UI40
    Conserved Domains (2) summary
    TIGR00367
    Location:137643
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:138280
    Na_Ca_ex; Sodium/calcium exchanger protein
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