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SLC23A2 (solute carrier family 23 member 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9962
Gene nameGene Name - the full gene name approved by the HGNC.
Solute carrier family 23 member 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SLC23A2
SynonymsGene synonyms aliases
NBTL1, SLC23A1, SVCT2, YSPL2
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13
SummarySummary 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.
miRNAmiRNA 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:0005215 Function Transporter activity IBA 21873635
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IDA 10631088
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 650
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Vitamin C (ascorbate) metabolism
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 22843504
Cholestasis Cholestasis rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 18706437

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