Seroatlas · Human Serome Atlas

SLC24A4

Sodium/potassium/calcium exchanger 4

Also known as: NCKX4, NCKX4_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8NFF2
Gene
SLC24A4
Ensembl
ENSG00000140090
Chromosome
14
Canonical length
622 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Plasma membrane

OverviewNCBI Gene

This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogenesis and enamel maturation. Certain variants in this gene have been associated with skin, hair, and eye pigmentation, while other variants have been identified in people with hypomaturation-type amelogenesis imperfecta. [provided by RefSeq, Nov 2023]

Canonical amino-acid sequenceUniProt

622 residues, UniProt reviewed canonical sequence.

>Q8NFF2|SLC24A4
     1  MALRGTLRPL KVRRRREMLP QQVGFVCAVL ALVCCASGLF GSLGHKTASA SKRVLPDTWR
    61  NRKLMAPVNG TQTAKNCTDP AIHEFPTDLF SNKERQHGAV LLHILGALYM FYALAIVCDD
   121  FFVPSLEKIC ERLHLSEDVA GATFMAAGSS TPELFASVIG VFITHGDVGV GTIVGSAVFN
   181  ILCIIGVCGL FAGQVVRLTW WAVCRDSVYY TISVIVLIVF IYDEQIVWWE GLVLIILYVF
   241  YILIMKYNVK MQAFFTVKQK SIANGNPVNS ELEAGNDFYD GSYDDPSVPL LGQVKEKPQY
   301  GKNPVVMVDE IMSSSPPKFT FPEAGLRIMI TNKFGPRTRL RMASRIIINE RQRLINSANG
   361  VSSKPLQNGR HENIENGNVP VENPEDPQQN QEQQPPPQPP PPEPEPVEAD FLSPFSVPEA
   421  RGDKVKWVFT WPLIFLLCVT IPNCSKPRWE KFFMVTFITA TLWIAVFSYI MVWLVTIIGY
   481  TLGIPDVIMG ITFLAAGTSV PDCMASLIVA RQGLGDMAVS NTIGSNVFDI LVGLGVPWGL
   541  QTMVVNYGST VKINSRGLVY SVVLLLGSVA LTVLGIHLNK WRLDRKLGVY VLVLYAIFLC
   601  FSIMIEFNVF TFVNLPMCRE DD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC24A4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
10
Mean surface accessibility (rSASA)
0.34
Highest tissue expression
44 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 44 nTPM
  • retina: 11 nTPM
  • midbrain: 4.7 nTPM
  • cerebral cortex: 4.3 nTPM
  • basal ganglia: 3.8 nTPM
  • bone marrow: 3.3 nTPM

Single-cell type

  • choroid plexus epithelial cells: 1,344 nCPM
  • retinal bipolar cells: 631 nCPM
  • cone photoreceptor cells: 520 nCPM
  • astrocytes: 103 nCPM
  • pituicytes/fscs: 76 nCPM
  • cdc: 73 nCPM

Immune cell

  • intermediate monocyte: 15 nTPM
  • non-classical monocyte: 12 nTPM
  • classical monocyte: 11 nTPM
  • myeloid DC: 3 nTPM
  • total PBMC: 2.7 nTPM
  • neutrophil: 1.5 nTPM

Brain region

  • choroid plexus: 201 nTPM
  • medulla oblongata: 53 nTPM
  • pons: 45 nTPM
  • cerebellum: 43 nTPM
  • thalamus: 42 nTPM
  • spinal cord: 38 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC24A4.

Disease | AllUniProt

Conditions SLC24A4 is implicated in, by any mechanism.

  • Amelogenesis imperfecta, hypomaturation type, 2A5 (AI2A5) MIM:615887

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 185 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.87
gnomAD pLI
0
gnomAD missense Z
0.8
DepMap mean gene effect
0.1
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC24A4 as an antibody target. Whether an autoantibody or antibody against SLC24A4 could matter depends on whether native SLC24A4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC24A4 is annotated at the cell surface, where native SLC24A4 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SLC24A4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC24A4. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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