• Gene id: 10246

Gene Summary

• Gene Symbol: SLC17A2   Gene   UCSC   Ensembl
• Aliases: NPT3
• Gene name: solute carrier family 17 member 2
• Alternate names: sodium-dependent phosphate transport protein 3, Na(+)/PI cotransporter 3, sodium phosphate transporter 3, sodium/phosphate cotransporter 3, solute carrier family 17 (vesicular glutamate transporter), member 2,
• Gene location: 6p22.2 (25930726: 25912753)     Exons: 12     NC_000006.12
• OMIM: 614452

SNPs

rs4997052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31356367T>A
NC_000006.12   g.31356367T>G
NC_000006.11   g.31324144T>A
NC_000006.11   g.31324144T>G
NG_023187.1   g.5846A>T
NG_023187.1   g.5846A>C
NM_005514.8   c.419A>T
NM_005514.8   c.419A>C
NM_005514.7   c.419A>T
NM_005514.7   c.419A>C
NM_005514.6   c.

Protein Summary

• Protein general information: O00624  
  • Name: Sodium dependent phosphate transport protein 3 (Na(+)/PI cotransporter 3) (Sodium/phosphate cotransporter 3) (Solute carrier family 17 member 2)
  • Length: 439  
  • Mass: 47277
  • Tissue specificity: Expressed in the small intestine, kidney, spleen and testis. Not detected in fetal brain, bone marrow, and mammary gland. {ECO
• Sequence:

  MDGKPATRKGPDFCSLRYGLALIMHFSNFTMITQRVSLSIAIIAMVNTTQQQGLSNASTEGPVADAFNNSSISIK
  EFDTKASVYQWSPETQGIIFSSINYGIILTLIPSGYLAGIFGAKKMLGAGLLISSLLTLFTPLAADFGVILVIMV
  RTVQGMAQGMAWTGQFTIWAKWAPPLERSKLTTIAGSGSAFGSFIILCVGGLISQALSWPFIFYIFGSTGCVCCL
  LWFTVIYDDPMHHPCISVREKEHILSSLAQQPSSPGRAVPIKAMVTCLPLWAIFLGFFSHFWLCTIILTYLPTYI
  STLLHVNIRDSGVLSSLPFIAAASCTILGGQLADFLLSRNLLRLITVRKLFSSLGLLLPSICAVALPFVASSYVI
  TIILLILIPGTSNLCDSGFIINTLDIAPRYASFLMGISRGFGLIAGIISSTATGFLISQVGPVY

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000367081
• Other Databases: GeneCards:  SLC17A2  Malacards:  SLC17A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0006820	anion transport	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0006796	phosphate-containing compound metabolic process	TAS	biological process
GO:0006814	sodium ion transport	TAS	biological process
GO:0005436	sodium:phosphate symporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0035725	sodium ion transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R