• Gene id: 6524

Gene Summary

• Gene Symbol: SLC5A2   Gene   UCSC   Ensembl
• Aliases: SGLT2
• Gene name: solute carrier family 5 member 2
• Alternate names: sodium/glucose cotransporter 2, Na(+)/glucose cotransporter 2, low affinity sodium-glucose cotransporter, solute carrier family 5 (sodium/glucose cotransporter), member 2, solute carrier family 5 (sodium/glucose transporter), member 2,
• Gene location: 16p11.2 (31482534: 31490768)     Exons: 14     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associat
• OMIM: 607287

Protein Summary

• Protein general information: P31639  
  • Name: Sodium/glucose cotransporter 2 (Na(+)/glucose cotransporter 2) (Low affinity sodium glucose cotransporter) (Solute carrier family 5 member 2)
  • Length: 672  
  • Mass: 72897
• Sequence:

  MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASN
  IGSGHFVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLY
  IFTKISVDMFSGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGG
  YSGLFDKYLGAATSLTVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQR
  CLAGKSLTHIKAGCILCGYLKLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMP
  NGLRGLMLAVMLAALMSSLASIFNSSSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGG
  QLFDYIQAVSSYLAPPVSAVFVLALFVPRVNEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVH
  YLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLVFSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNEPQ
  APAPSLFRQCLLWFCGMSRGGVGSPPPLTQEEAAAAARRLEDISEDPSWARVVNLNALLMMAVAVFLWGFYA

• Structural information:
  • Interpro: IPR038377  IPR001734  IPR018212  
  • Prosite: PS00456 PS00457 PS50283
  • STRING: ENSP00000327943
• Other Databases: GeneCards:  SLC5A2  Malacards:  SLC5A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098719	sodium ion import across plasma membrane	IDA	biological process
GO:0098708	glucose import across plasma membrane	IDA	biological process
GO:0005412	glucose:sodium symporter activity	IDA	molecular function
GO:0055056	D-glucose transmembrane transporter activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0015151	alpha-glucoside transmembrane transporter activity	IDA	molecular function
GO:0015151	alpha-glucoside transmembrane transporter activity	IDA	molecular function
GO:0000017	alpha-glucoside transport	IDA	biological process
GO:0000017	alpha-glucoside transport	IDA	biological process
GO:0005412	glucose:sodium symporter activity	IBA	molecular function
GO:0006814	sodium ion transport	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008643	carbohydrate transport	IEA	biological process
GO:0005362	low-affinity glucose:sodium symporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0005412	glucose:sodium symporter activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0008645	hexose transmembrane transport	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Familial renal glucosuria	KEGG:H01126
Familial renal glucosuria	KEGG:H01126
Renal glycosuria	PMID:14614622
Renal glycosuria	PMID:12436245
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq