Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9962
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 23 member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC23A2
Synonyms (NCBI Gene) Gene synonyms aliases
NBTL1, SLC23A1, SVCT2, YSPL2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT042667 hsa-miR-196b-5p CLASH 23622248
MIRT036183 hsa-miR-320b CLASH 23622248
MIRT756053 hsa-miR-27a-5p Microarray, qRT-PCR 35899934
MIRT756054 hsa-miR-1275 Microarray, qRT-PCR 35899934
MIRT1354637 hsa-miR-101 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603791 10973 ENSG00000089057
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 23990905
Adenoma Associate 18791929
Breast Neoplasms Associate 25102111
Breast Neoplasms Inhibit 29593282
Cognition Disorders Associate 34780525
Colorectal Neoplasms Associate 18791929
Drug Related Side Effects and Adverse Reactions Associate 24578608
Esophageal Squamous Cell Carcinoma Associate 24578608
Glaucoma Associate 22171153
Glaucoma Open Angle Associate 22171153, 23401652