Gene Gene information from NCBI Gene database.
Entrez ID 9962
Gene name Solute carrier family 23 member 2
Gene symbol SLC23A2
Synonyms (NCBI Gene)
NBTL1SLC23A1SVCT2YSPL2
Chromosome 20
Chromosome location 20p13
Summary The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C.
miRNA miRNA information provided by mirtarbase database.
524
miRTarBase ID miRNA Experiments Reference
MIRT042667 hsa-miR-196b-5p CLASH 23622248
MIRT036183 hsa-miR-320b CLASH 23622248
MIRT756053 hsa-miR-27a-5p MicroarrayqRT-PCR 35899934
MIRT756054 hsa-miR-1275 MicroarrayqRT-PCR 35899934
MIRT1354637 hsa-miR-101 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 34673103
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IDA 10631088
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603791 10973 ENSG00000089057
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UGH3
Protein name Solute carrier family 23 member 2 (Na(+)/L-ascorbic acid transporter 2) (Nucleobase transporter-like 1 protein) (Sodium-dependent vitamin C transporter 2) (hSVCT2) (Yolk sac permease-like molecule 2)
Protein function Sodium/ascorbate cotransporter (PubMed:10471399, PubMed:10556521). Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate (PubMed:10471399).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00860 Xan_ur_permease 101 536 Permease family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10471399}.
Sequence
Sequence length 650
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Vitamin C (ascorbate) metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations