Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9962 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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SLC23A2 |
SynonymsGene synonyms aliases
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NBTL1, SLC23A1, SVCT2, YSPL2 |
ChromosomeChromosome number
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20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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20p13 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0005215 |
Function |
Transporter activity |
IBA |
21873635 |
GO:0005737 |
Component |
Cytoplasm |
IEA |
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GO:0005886 |
Component |
Plasma membrane |
IDA |
10631088 |
GO:0005886 |
Component |
Plasma membrane |
TAS |
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GO:0005887 |
Component |
Integral component of plasma membrane |
IEA |
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GO:0006814 |
Process |
Sodium ion transport |
IEA |
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GO:0006979 |
Process |
Response to oxidative stress |
IEA |
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GO:0008520 |
Function |
L-ascorbate:sodium symporter activity |
IDA |
10471399, 10631088, 15993839 |
GO:0009925 |
Component |
Basal plasma membrane |
IEA |
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GO:0015229 |
Function |
L-ascorbic acid transmembrane transporter activity |
IDA |
10631088, 18247577, 18417304, 19216494 |
GO:0015882 |
Process |
L-ascorbic acid transmembrane transport |
IDA |
10471399, 10631088, 18247577, 18417304, 19216494 |
GO:0016021 |
Component |
Integral component of membrane |
IC |
10471399 |
GO:0016323 |
Component |
Basolateral plasma membrane |
IDA |
15993839, 18247577, 18417304, 19216494 |
GO:0016324 |
Component |
Apical plasma membrane |
IDA |
18417304 |
GO:0019852 |
Process |
L-ascorbic acid metabolic process |
IBA |
21873635 |
GO:0019852 |
Process |
L-ascorbic acid metabolic process |
NAS |
10556521 |
GO:0019852 |
Process |
L-ascorbic acid metabolic process |
TAS |
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GO:0070904 |
Process |
Transepithelial L-ascorbic acid transport |
IDA |
18417304 |
GO:0071361 |
Process |
Cellular response to ethanol |
IEA |
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GO:1901215 |
Process |
Negative regulation of neuron death |
IEA |
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GO:1903861 |
Process |
Positive regulation of dendrite extension |
IEA |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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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.
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Associated diseases
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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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