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SLC24A4 solute carrier family 24 member 4 [ Homo sapiens (human) ]

Gene ID: 123041, updated on 6-Sep-2021

Summary

Official Symbol
SLC24A4provided by HGNC
Official Full Name
solute carrier family 24 member 4provided by HGNC
Primary source
HGNC:HGNC:10978
See related
Ensembl:ENSG00000140090 MIM:609840
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
AI2A5; NCKX4; SHEP6; SLC24A2
Summary
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See SLC24A4 in Genome Data Viewer
Location:
14q32.12
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (92322581..92501481)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92788925..92967825)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 366, pseudogene Neighboring gene uncharacterized LOC105370627 Neighboring gene uncharacterized LOC105370707 Neighboring gene Ras and Rab interactor 3

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 association study identifies novel alleles associated with hair color and skin pigmentation.
GeneReviews: Not available
Amelogenesis imperfecta, hypomaturation type IIA5
MedGen: C4014578 OMIM: 615887 GeneReviews: Not available
Compare labs
Genetic determinants of hair, eye and skin pigmentation in Europeans.
GeneReviews: Not available
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
GeneReviews: Not available
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
GeneReviews: Not available
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
GeneReviews: Not available
Skin/hair/eye pigmentation, variation in, 6
MedGen: C2673866 OMIM: 210750 GeneReviews: Not available
Compare labs
Web-based, participant-driven studies yield novel genetic associations for common traits.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38852

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 calcium-dependent protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in amelogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in calcium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
involved_in cone photoresponse recovery ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in detection of chemical stimulus involved in sensory perception of smell ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of drinking behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of enamel mineralization TAS
Traceable Author Statement
more info
PubMed 
involved_in ion transport TAS
Traceable Author Statement
more info
 
involved_in membrane repolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of calcium-mediated signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of olfactory nerve maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of phototransduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of regulation of G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of regulation of eating behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of regulation of signaling receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to high light intensity ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of response to melanocyte-stimulating hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to odorant ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sensory perception of smell IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sensory perception of smell ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cone photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
located_in vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
sodium/potassium/calcium exchanger 4
Names
Na(+)/K(+)/Ca(2+)-exchange protein 4
solute carrier family 24 (sodium/potassium/calcium exchanger), member 4

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.

Genomic

  1. NG_023408.1 RefSeqGene

    Range
    5001..183901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001378620.1NP_001365549.1  sodium/potassium/calcium exchanger 4 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL118559
    Related
    ENSP00000502715.1, ENST00000676001.1
    Conserved Domains (1) summary
    TIGR00927
    Location:80606
    2A1904; K+-dependent Na+/Ca+ exchanger
  2. NM_153646.4NP_705932.2  sodium/potassium/calcium exchanger 4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_705932.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF520704, AL118559, BC050357
    Consensus CDS
    CCDS9903.2
    UniProtKB/Swiss-Prot
    Q8NFF2
    Related
    ENSP00000431840.1, ENST00000532405.6
    Conserved Domains (1) summary
    TIGR00927
    Location:80606
    2A1904; K+-dependent Na+/Ca+ exchanger
  3. NM_153647.4NP_705933.2  sodium/potassium/calcium exchanger 4 isoform 2

    See identical proteins and their annotated locations for NP_705933.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AK295059, AL118559, BC050357
    Consensus CDS
    CCDS45155.2
    UniProtKB/Swiss-Prot
    Q8NFF2
    Related
    ENSP00000433302.1, ENST00000531433.5
    Conserved Domains (1) summary
    cl27511
    Location:80587
    Na_Ca_ex; Sodium/calcium exchanger protein
  4. NM_153648.4NP_705934.1  sodium/potassium/calcium exchanger 4 isoform 3

    See identical proteins and their annotated locations for NP_705934.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to variant 1.
    Source sequence(s)
    AF520706, AL118559, BC050357
    Consensus CDS
    CCDS45156.1
    UniProtKB/Swiss-Prot
    Q8NFF2
    Related
    ENSP00000376948.2, ENST00000393265.6
    Conserved Domains (2) summary
    TIGR00367
    Location:38534
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:388540
    Na_Ca_ex; Sodium/calcium exchanger protein

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_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    92322581..92501481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449478.1XP_024305246.1  sodium/potassium/calcium exchanger 4 isoform X5

    Conserved Domains (1) summary
    cl27511
    Location:80587
    Na_Ca_ex; Sodium/calcium exchanger protein
  2. XM_011536436.2XP_011534738.1  sodium/potassium/calcium exchanger 4 isoform X1

    Conserved Domains (2) summary
    TIGR00367
    Location:149645
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:499651
    Na_Ca_ex; Sodium/calcium exchanger protein
  3. XM_011536439.2XP_011534741.1  sodium/potassium/calcium exchanger 4 isoform X4

    Conserved Domains (2) summary
    TIGR00367
    Location:149594
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:150292
    Na_Ca_ex; Sodium/calcium exchanger protein
  4. XM_011536437.2XP_011534739.1  sodium/potassium/calcium exchanger 4 isoform X2

    Conserved Domains (2) summary
    TIGR00367
    Location:149626
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:480632
    Na_Ca_ex; Sodium/calcium exchanger protein
  5. XM_011536438.2XP_011534740.1  sodium/potassium/calcium exchanger 4 isoform X3

    Conserved Domains (2) summary
    TIGR00367
    Location:149613
    TIGR00367; K+-dependent Na+/Ca+ exchanger related-protein
    pfam01699
    Location:150292
    Na_Ca_ex; Sodium/calcium exchanger protein
  6. XM_005267342.2XP_005267399.1  sodium/potassium/calcium exchanger 4 isoform X7

    Conserved Domains (1) summary
    pfam01699
    Location:197
    Na_Ca_ex; Sodium/calcium exchanger protein
  7. XM_011536440.2XP_011534742.1  sodium/potassium/calcium exchanger 4 isoform X6

    Conserved Domains (1) summary
    pfam01699
    Location:202354
    Na_Ca_ex; Sodium/calcium exchanger protein
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