Gene Gene information from NCBI Gene database.
Entrez ID 25769
Gene name Solute carrier family 24 member 2
Gene symbol SLC24A2
Synonyms (NCBI Gene)
NCKX2
Chromosome 9
Chromosome location 9p22.1-p21.3
Summary This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. Thi
miRNA miRNA information provided by mirtarbase database.
318
miRTarBase ID miRNA Experiments Reference
MIRT723106 hsa-miR-1245b-5p HITS-CLIP 19536157
MIRT723105 hsa-miR-3142 HITS-CLIP 19536157
MIRT723104 hsa-miR-3922-5p HITS-CLIP 19536157
MIRT723103 hsa-miR-519d-5p HITS-CLIP 19536157
MIRT723102 hsa-miR-5695 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0001917 Component Photoreceptor inner segment ISS 10662833
GO:0005262 Function Calcium channel activity IBA
GO:0005262 Function Calcium channel activity IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 26631410
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609838 10976 ENSG00000155886
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UI40
Protein name Sodium/potassium/calcium exchanger 2 (Na(+)/K(+)/Ca(2+)-exchange protein 2) (Retinal cone Na-Ca+K exchanger) (Solute carrier family 24 member 2)
Protein function Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:10662833, PubMed:26631410). Required for learming and memory by regulating neuronal Ca(2+), which is essential for the development of synapt
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01699 Na_Ca_ex 138 282 Sodium/calcium exchanger protein Family
PF01699 Na_Ca_ex 498 649 Sodium/calcium exchanger protein Family
Sequence
MDLQQSTTITSLEKWCLDESLSGCRRHYSVKKKLKLIRVLGLFMGLVAISTVSFSISAFS
ETDTQSTGEASVVSGPRVAQGYHQRTLLDLNDKILDYTPQPPLSKEGESENSTDHAQGDY
PKDIFSLEERRKGAIILHVIGMIYMFIALAIVCDEFFVPSLTVITEKLGISDDVAGATFM
AAGGSAPELFTSLIGVFIAHSNVGIGTIVGSAVFNILFVIGMCALFSREILNLTWWPLFR
DVSFYIVDLIMLIIFFLDNVIMWWESLLLLTAYFCYVVFMKF
NVQVEKWVKQMINRNKVV
KVTAPEAQAKPSAARDKDEPTLPAKPRLQRGGSSASLHNSLMRNSIFQLMIHTLDPLAEE
LGSYGKLKYYDTMTEEGRFREKASILHKIAKKKCHVDENERQNGAANHVEKIELPNSTST
DVEMTPSSDASEPVQNGNLSHNIEGAEAQTADEEEDQPLSLAWPSETRKQVTFLIVFPIV
FPLWITLPDVRKPSSRKFFPITFFGSITWIAVFSYLMVWWAHQVGETIGISEEIMGLTIL
AAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPLPWLLYTVIHRFQPVAVSS
NGLFCAIVLLFIMLLFVILSIALCKWRMNKILGFIMFGLYFVFLVVSVL
LEDRILTCPVS
I
Sequence length 661
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sodium/Calcium exchangers
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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
Abnormal retinal morphology Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Brain Ischemia Stimulate 35806133
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Associate 28413183
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 35601016
★☆☆☆☆
Found in Text Mining only
Heart Diseases Associate 37939667
★☆☆☆☆
Found in Text Mining only
Infarction Associate 35806133
★☆☆☆☆
Found in Text Mining only
Macular Degeneration Associate 34646884
★☆☆☆☆
Found in Text Mining only
Medulloblastoma Associate 28683437
★☆☆☆☆
Found in Text Mining only
Myocardial Ischemia Associate 35806133
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 35601016
★☆☆☆☆
Found in Text Mining only
Pigmentation Disorders Associate 27129268
★☆☆☆☆
Found in Text Mining only