• Gene id: 142680

Gene Summary

• Gene Symbol: SLC34A3   Gene   UCSC   Ensembl
• Aliases: HHRH, NPTIIc
• Gene name: solute carrier family 34 member 3
• Alternate names: sodium-dependent phosphate transport protein 2C, Na(+)-dependent phosphate cotransporter 2C, Na(+)/Pi cotransporter 2C, naPi-2c, sodium-phosphate transport protein 2C, sodium/inorganic phosphate cotransporter IIC, solute carrier family 34 (sodium phosphate), me,
• Gene location: 9q34.3 (137230756: 137236554)     Exons: 16     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenanc
• OMIM: 617464

Protein Summary

• Protein general information: Q8N130  
  • Name: Sodium dependent phosphate transport protein 2C (Sodium phosphate transport protein 2C) (Na(+) dependent phosphate cotransporter 2C) (Sodium/inorganic phosphate cotransporter IIC) (Sodium/phosphate cotransporter 2C) (Na(+)/Pi cotransporter 2C) (NaPi 2c) (
  • Length: 599  
  • Mass: 63550
• Sequence:

  MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGRLRRVAGSVLK
  ACGLLGSLYFFICSLDVLSSAFQLLGSKVAGDIFKDNVVLSNPVAGLVIGVLVTALVQSSSTSSSIVVSMVAAKL
  LTVRVSVPIIMGVNVGTSITSTLVSMAQSGDRDEFQRAFSGSAVHGIFNWLTVLVLLPLESATALLERLSELALG
  AASLTPRAQAPDILKVLTKPLTHLIVQLDSDMIMSSATGNATNSSLIKHWCGTTGQPTQENSSCGAFGPCTEKNS
  TAPADRLPCRHLFAGTELTDLAVGCILLAGSLLVLCGCLVLIVKLLNSVLRGRVAQVVRTVINADFPFPLGWLGG
  YLAVLAGAGLTFALQSSSVFTAAVVPLMGVGVISLDRAYPLLLGSNIGTTTTALLAALASPADRMLSALQVALIH
  FFFNLAGILLWYLVPALRLPIPLARHFGVVTARYRWVAGVYLLLGFLLLPLAAFGLSLAGGMELAAVGGPLVGLV
  LLVILVTVLQRRRPAWLPVRLRSWAWLPVWLHSLEPWDRLVTRCCPCNVCSPPKATTKEAYCYENPEILASQQL

• Structural information:
  • Interpro: IPR003841  IPR029850  
  • STRING: ENSP00000442397
• Other Databases: GeneCards:  SLC34A3  Malacards:  SLC34A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0044341	sodium-dependent phosphate transport	IBA	biological process
GO:0030643	cellular phosphate ion homeostasis	IBA	biological process
GO:0031982	vesicle	IBA	cellular component
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0005903	brush border	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005436	sodium:phosphate symporter activity	IBA	molecular function
GO:0044341	sodium-dependent phosphate transport	IEA	biological process
GO:0005436	sodium:phosphate symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0031526	brush border membrane	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006817	phosphate ion transport	IEA	biological process
GO:0005436	sodium:phosphate symporter activity	IEA	molecular function
GO:0005903	brush border	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0005436	sodium:phosphate symporter activity	IDA	molecular function
GO:0006817	phosphate ion transport	IDA	biological process
GO:0030643	cellular phosphate ion homeostasis	IDA	biological process
GO:0006814	sodium ion transport	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Hypophosphatemic rickets	KEGG:H00214
Hereditary hypophophatemic rickets with hypercalciuria	KEGG:H02138
Hypophosphatemic rickets	KEGG:H00214
Hereditary hypophophatemic rickets with hypercalciuria	KEGG:H02138
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