Gene Gene information from NCBI Gene database.
Entrez ID 123041
Gene name Solute carrier family 24 member 4
Gene symbol SLC24A4
Synonyms (NCBI Gene)
AI2A5NCKX4SHEP6SLC24A2
Chromosome 14
Chromosome location 14q32.12
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]
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs587777535 C>G,T Pathogenic Coding sequence variant, missense variant, stop gained
rs587777536 A>T Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs587777537 C>T Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs1595312054 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
825
miRTarBase ID miRNA Experiments Reference
MIRT573778 hsa-miR-3613-3p HITS-CLIP 19536157
MIRT613723 hsa-miR-371b-5p HITS-CLIP 19536157
MIRT613722 hsa-miR-373-5p HITS-CLIP 19536157
MIRT613721 hsa-miR-616-5p HITS-CLIP 19536157
MIRT616192 hsa-miR-371a-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
78
GO ID Ontology Definition Evidence Reference
GO:0005262 Function Calcium channel activity IBA
GO:0005516 Function Calmodulin binding IEA
GO:0005516 Function Calmodulin binding ISS
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609840 10978 ENSG00000140090
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFF2
Protein name Sodium/potassium/calcium exchanger 4 (Na(+)/K(+)/Ca(2+)-exchange protein 4) (Solute carrier family 24 member 4)
Protein function Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:12379639, PubMed:26631410). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01699 Na_Ca_ex 103 246 Sodium/calcium exchanger protein Family
PF01699 Na_Ca_ex 452 604 Sodium/calcium exchanger protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed abundantly in all regions of the brain, aorta, lung and thymus (PubMed:12379639). Expressed at lower levels in the stomach and intestine (PubMed:12379639). {ECO:0000269|PubMed:12379639}.
Sequence
MALRGTLRPLKVRRRREMLPQQVGFVCAVLALVCCASGLFGSLGHKTASASKRVLPDTWR
NRKLMAPVNGTQTAKNCTDPAIHEFPTDLFSNKERQHGAVLLHILGALYMFYALAIVCDD
FFVPSLEKICERLHLSEDVAGATFMAAGSSTPELFASVIGVFITHGDVGVGTIVGSAVFN
ILCIIGVCGLFAGQVVRLTWWAVCRDSVYYTISVIVLIVFIYDEQIVWWEGLVLIILYVF
YILIMK
YNVKMQAFFTVKQKSIANGNPVNSELEAGNDFYDGSYDDPSVPLLGQVKEKPQY
GKNPVVMVDEIMSSSPPKFTFPEAGLRIMITNKFGPRTRLRMASRIIINERQRLINSANG
VSSKPLQNGRHENIENGNVPVENPEDPQQNQEQQPPPQPPPPEPEPVEADFLSPFSVPEA
RGDKVKWVFTWPLIFLLCVTIPNCSKPRWEKFFMVTFITATLWIAVFSYIMVWLVTIIGY
TLGIPDVIMGITFLAAGTSVPDCMASLIVARQGLGDMAVSNTIGSNVFDILVGLGVPWGL
QTMVVNYGSTVKINSRGLVYSVVLLLGSVALTVLGIHLNKWRLDRKLGVYVLVLYAIFLC
FSIM
IEFNVFTFVNLPMCREDD
Sequence length 622
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Olfactory transduction   Sodium/Calcium exchangers
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amelogenesis imperfecta Pathogenic rs141131742 RCV002250377
Amelogenesis imperfecta hypomaturation type 2A5 Pathogenic rs587777535, rs587777536, rs587777537, rs1595312054 RCV000128621
RCV000128622
RCV000128623
RCV000850236
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs45587635 RCV005915675
Adrenocortical carcinoma, hereditary Benign rs45587635 RCV005915676
Cholangiocarcinoma Benign rs7151618, rs4904941 RCV005914598
RCV005915712
Hepatocellular carcinoma Benign rs7151618 RCV005914596
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Albinism Oculocutaneous Associate 27129268
Alzheimer Disease Associate 25365775, 28199971, 30258121, 33419465, 34092785, 36573011, 38511601
Amelogenesis Imperfecta Associate 25442250, 32380970
Amelogenesis Imperfecta hypomaturation type Associate 25442250
Amelogenesis imperfecta pigmented hypomaturation type Associate 25442250
Amyloidosis Associate 33419465
Cognition Disorders Associate 28199971
Color Vision Defects Associate 18483556
Fractures Spontaneous Associate 33419465
Hypoalphalipoproteinemias Associate 32541515