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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amelogenesis imperfecta Pathogenic rs141131742 RCV002250377
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta hypomaturation type 2A5 Pathogenic rs587777535, rs587777536, rs587777537, rs1595312054 RCV000128621
RCV000128622
RCV000128623
RCV000850236
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 27646882
★☆☆☆☆
Found in Text Mining only
Albinism Oculocutaneous Oculocutaneous albinism Pubtator 27129268 Associate
★☆☆☆☆
Found in Text Mining only
Albinism, Oculocutaneous Oculocutaneous albinism BEFREE 27129268
★☆☆☆☆
Found in Text Mining only
ALBINISM, OCULOCUTANEOUS, TYPE VI Oculocutaneous albinism BEFREE 27129268
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25365775, 28199971, 30258121, 33419465, 34092785, 36573011, 38511601 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 27215332
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 24162737, 25778476, 29777097, 30617256, 31473137
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASDB_DG 24162737
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta BEFREE 24532815, 30877375
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta Amelogenesis imperfecta Pubtator 25442250, 32380970 Associate
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)