• Gene id: 9962

Gene Summary

• Gene Symbol: SLC23A2   Gene   UCSC   Ensembl
• Aliases: NBTL1, SLC23A1, SVCT2, YSPL2
• Gene name: solute carrier family 23 member 2
• Alternate names: solute carrier family 23 member 2, Na(+)/L-ascorbic acid transporter 2, nucleobase transporter-like 1 protein, sodium-dependent vitamin C transporter-2, solute carrier family 23 (ascorbic acid transporter), member 2, solute carrier family 23 (nucleobase transp,
• Gene location: 20p13 (5010312: 4852357)     Exons: 18     NC_000020.11
• Gene summary(Entrez): 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.
• OMIM: 604803

Protein Summary

• Protein general information: Q9UGH3  
  • 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)
  • Length: 650  
  • Mass: 70337
  • Tissue specificity: Ubiquitous.
• Sequence:

  MMGIGKNTTSKSMEAGSSTEGKYEDEAKHPAFFTLPVVINGGATSSGEQDNEDTELMAIYTTENGIAEKSSLAET
  LDSTGSLDPQRSDMIYTIEDVPPWYLCIFLGLQHYLTCFSGTIAVPFLLADAMCVGYDQWATSQLIGTIFFCVGI
  TTLLQTTFGCRLPLFQASAFAFLAPARAILSLDKWKCNTTDVSVANGTAELLHTEHIWYPRIREIQGAIIMSSLI
  EVVIGLLGLPGALLKYIGPLTITPTVALIGLSGFQAAGERAGKHWGIAMLTIFLVLLFSQYARNVKFPLPIYKSK
  KGWTAYKLQLFKMFPIILAILVSWLLCFIFTVTDVFPPDSTKYGFYARTDARQGVLLVAPWFKVPYPFQWGLPTV
  SAAGVIGMLSAVVASIIESIGDYYACARLSCAPPPPIHAINRGIFVEGLSCVLDGIFGTGNGSTSSSPNIGVLGI
  TKVGSRRVIQCGAALMLALGMIGKFSALFASLPDPVLGALFCTLFGMITAVGLSNLQFIDLNSSRNLFVLGFSIF
  FGLVLPSYLRQNPLVTGITGIDQVLNVLLTTAMFVGGCVAFILDNTIPGTPEERGIRKWKKGVGKGNKSLDGMES
  YNLPFGMNIIKKYRCFSYLPISPTFVGYTWKGLRKSDNSRSSDEDSQATG

• Structural information:
  • Interpro: IPR029956  IPR006042  IPR006043  
  • Prosite: PS01116
  • STRING: ENSP00000368637
• Other Databases: GeneCards:  SLC23A2  Malacards:  SLC23A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019852	L-ascorbic acid metabolic process	IBA	biological process
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0015882	L-ascorbic acid transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070890	sodium-dependent L-ascorbate transmembrane transporter activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0015205	nucleobase transmembrane transporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0015851	nucleobase transport	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0019852	L-ascorbic acid metabolic process	TAS	biological process
GO:0019852	L-ascorbic acid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008520	L-ascorbate:sodium symporter activity	IEA	molecular function
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0015229	L-ascorbic acid transmembrane transporter activity	IEA	molecular function
GO:0015882	L-ascorbic acid transmembrane transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006979	response to oxidative stress	IEA	biological process
GO:0008520	L-ascorbate:sodium symporter activity	IEA	molecular function
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0015229	L-ascorbic acid transmembrane transporter activity	IEA	molecular function
GO:0015882	L-ascorbic acid transmembrane transport	IEA	biological process
GO:0070890	sodium-dependent L-ascorbate transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0070904	transepithelial L-ascorbic acid transport	IDA	biological process
GO:0070890	sodium-dependent L-ascorbate transmembrane transporter activity	IDA	molecular function
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0015229	L-ascorbic acid transmembrane transporter activity	IDA	molecular function
GO:0015229	L-ascorbic acid transmembrane transporter activity	IDA	molecular function
GO:0015229	L-ascorbic acid transmembrane transporter activity	IDA	molecular function
GO:0070890	sodium-dependent L-ascorbate transmembrane transporter activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0070890	sodium-dependent L-ascorbate transmembrane transporter activity	IDA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016021	integral component of membrane	IC	cellular component
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0015882	L-ascorbic acid transmembrane transport	IDA	biological process
GO:0015229	L-ascorbic acid transmembrane transporter activity	IDA	molecular function
GO:0019852	L-ascorbic acid metabolic process	NAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R