• Gene id: 9351

Gene Summary

• Gene Symbol: SLC9A3R2   Gene   UCSC   Ensembl
• Aliases: E3KARP, NHE3RF2, NHERF-2, NHERF2, OCTS2, SIP-1, SIP1, TKA-1
• Gene name: SLC9A3 regulator 2
• Alternate names: Na(+)/H(+) exchange regulatory cofactor NHE-RF2, NHE3 kinase A regulatory protein E3KARP, NHE3 regulatory factor 2, SRY-interacting protein 1, sodium/hydrogen exchanger 3 kinase A regulatory protein, solute carrier family 9 (sodium/hydrogen exchanger), isoform,
• Gene location: 16p13.3 (2026901: 2039025)     Exons: 10     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins.
• OMIM: 610674

Protein Summary

• Protein general information: Q15599  
  • Name: Na(+)/H(+) exchange regulatory cofactor NHE RF2 (NHERF 2) (NHE3 kinase A regulatory protein E3KARP) (SRY interacting protein 1) (SIP 1) (Sodium hydrogen exchanger regulatory factor 2) (Solute carrier family 9 isoform A3 regulatory factor 2) (Tyrosine kina
  • Length: 337  
  • Mass: 37414
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAAPEPLRPRLCRLVRGEQGYGFHLHGEKGRRGQFIRRVEPGSPAEAAALRAGDRLVEVNGVNVEGETHHQVVQR
  IKAVEGQTRLLVVDQETDEELRRRQLTCTEEMAQRGLPPAHDPWEPKPDWAHTGSHSSEAGKKDVSGPLRELRPR
  LCHLRKGPQGYGFNLHSDKSRPGQYIRSVDPGSPAARSGLRAQDRLIEVNGQNVEGLRHAEVVASIKAREDEARL
  LVVDPETDEHFKRLRVTPTEEHVEGPLPSPVTNGTSPAQLNGGSACSSRSDLPGSDKDTEDGSAWKQDPFQESGL
  HLSPTAAEAKEKARAMRVNKRAPQMDWNRKREIFSNF

• Structural information:
  • Protein Domains: (11..9-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (150..23-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR015098  IPR017300  IPR031197  IPR001478  IPR041489   IPR036034  
  • Prosite: PS50106
  • PDB: 2D11 2HE4 2OCS 4P0C
  • PDBsum: 2D11 2HE4 2OCS 4P0C
  • DIP: 29093
  • STRING: ENSP00000408005
• Other Databases: GeneCards:  SLC9A3R2  Malacards:  SLC9A3R2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031799	type 2 metabotropic glutamate receptor binding	ISS	molecular function
GO:0031800	type 3 metabotropic glutamate receptor binding	ISS	molecular function
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0019902	phosphatase 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0060090	molecular adaptor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0065003	protein-containing complex assembly	TAS	biological process
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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0012505	endomembrane system	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04960	Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases	References
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
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