Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
123041
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 24 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC24A4
Synonyms (NCBI Gene) Gene synonyms aliases
AI2A5, NCKX4, SHEP6, SLC24A2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AI2A5
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005262 Function Calcium channel activity IBA 21873635
GO:0005737 Component Cytoplasm ISS
GO:0005886 Component Plasma membrane IDA 26631410
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609840 10978 ENSG00000140090
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
31473137, 24162737, 29777097, 30617256, 25778476
Amelogenesis imperfecta Amelogenesis Imperfecta, Amelogenesis Imperfecta hypomaturation type, Amelogenesis Imperfecta, Type III, AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489
View all (70 more)
24621671, 23375655, 27129268
Unknown
Disease term Disease name Evidence References Source
Amelogenesis Imperfecta amelogenesis imperfecta hypomaturation type 2A5 GenCC
Dementia Dementia GWAS
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
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