Gene Gene information from NCBI Gene database.
Entrez ID 6547
Gene name Solute carrier family 8 member A3
Gene symbol SLC8A3
Synonyms (NCBI Gene)
NCX3
Chromosome 14
Chromosome location 14q24.2
Summary This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions an
miRNA miRNA information provided by mirtarbase database.
125
miRTarBase ID miRNA Experiments Reference
MIRT525957 hsa-miR-6769a-3p PAR-CLIP 20371350
MIRT525956 hsa-miR-5000-5p PAR-CLIP 20371350
MIRT525955 hsa-miR-6847-5p PAR-CLIP 20371350
MIRT525954 hsa-miR-4257 PAR-CLIP 20371350
MIRT525953 hsa-miR-759 PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
KCNIP3 Repression 16306395
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
108
GO ID Ontology Definition Evidence Reference
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0005432 Function Calcium:sodium antiporter activity IBA
GO:0005432 Function Calcium:sodium antiporter activity IEA
GO:0005432 Function Calcium:sodium antiporter activity ISS
GO:0005432 Function Calcium:sodium antiporter activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607991 11070 ENSG00000100678
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P57103
Protein name Sodium/calcium exchanger 3 (Na(+)/Ca(2+)-exchange protein 3) (Solute carrier family 8 member 3)
Protein function Mediates the electrogenic exchange of Ca(2+) against Na(+) ions across the cell membrane, and thereby contributes to the regulation of cytoplasmic Ca(2+) levels and Ca(2+)-dependent cellular processes. Contributes to cellular Ca(2+) homeostasis
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01699 Na_Ca_ex 79 250 Sodium/calcium exchanger protein Family
PF16494 Na_Ca_ex_C 253 380 C-terminal extension of sodium/calcium exchanger domain Family
PF03160 Calx-beta 385 485 Calx-beta domain Domain
PF03160 Calx-beta 519 619 Calx-beta domain Domain
PF01699 Na_Ca_ex 753 918 Sodium/calcium exchanger protein Family
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is expressed in brain and skeletal muscle. Isoform 3 is expressed in excitable cells of brain, retina and skeletal muscle. Isoform 4 is expressed in skeletal muscle. {ECO:0000269|PubMed:15777725}.
Sequence
MAWLRLQPLTSAFLHFGLVTFVLFLNGLRAEAGGSGDVPSTGQNNESCSGSSDCKEGVIL
PIWYPENPSLGDKIARVIVYFVALIYMFLGVSIIADRFMASIEVITSQEREVTIKKPNGE
TSTTTIRVWNETVSNLTLMALGSSAPEILLSLIEVCGHGFIAGDLGPSTIVGSAAFNMFI
IIGICVYVIPDGETRKIKHLRVFFITAAWSIFAYIWLYMILAVFSPGVVQVWEGLLTLFF
FPVCVLLAWV
ADKRLLFYKYMHKKYRTDKHRGIIIETEGDHPKGIEMDGKMMNSHFLDGN
LVPLEGKEVDESRREMIRILKDLKQKHPEKDLDQLVEMANYYALSHQQKSRAFYRIQATR
MMTGAGNILKKHAAEQAKKA
SSMSEVHTDEPEDFISKVFFDPCSYQCLENCGAVLLTVVR
KGGDMSKTMYVDYKTEDGSANAGADYEFTEGTVVLKPGETQKEFSVGIIDDDIFEEDEHF
FVRLS
NVRIEEEQPEEGMPPAIFNSLPLPRAVLASPCVATVTILDDDHAGIFTFECDTIH
VSESIGVMEVKVLRTSGARGTVIVPFRTVEGTAKGGGEDFEDTYGELEFKNDETVKTIRV
KIVDEEEYERQENFFIALG
EPKWMERGISALLLSPDVTDRKLTMEEEEAKRIAEMGKPVL
GEHPKLEVIIEESYEFKTTVDKLIKKTNLALVVGTHSWRDQFMEAITVSAAGDEDEDESG
EERLPSCFDYVMHFLTVFWKVLFACVPPTEYCHGWACFAVSILIIGMLTAIIGDLASHFG
CTIGLKDSVTAVVFVAFGTSVPDTFASKAAALQDVYADASIGNVTGSNAVNVFLGIGLAW
SVAAIYWALQGQEFHVSAGTLAFSVTLFTIFAFVCISVLLYRRRPHLGGELGGPRGCKLA
TTWLFVSLWLLYILFATL
EAYCYIKGF
Sequence length 927
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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)
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
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 21382638, 26394601 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29434186
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 26983453 Associate
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Cerebral Ischemia BEFREE 23224882
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Cerebral Infarction BEFREE 27856160
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 23224883
★☆☆☆☆
Found in Text Mining only
Clonic Seizures Clonic Seizures CTD_human_DG 20888801
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34127021 Associate
★☆☆☆☆
Found in Text Mining only
Complex partial seizures Seizure CTD_human_DG 20888801
★☆☆☆☆
Found in Text Mining only
Complex Partial Status Epilepticus Status Epilepticus CTD_human_DG 20888801
★☆☆☆☆
Found in Text Mining only