• Gene id: 285195

Gene Summary

• Gene Symbol: SLC9A9   Gene   UCSC   Ensembl
• Aliases: AUTS16, NHE9
• Gene name: solute carrier family 9 member A9
• Alternate names: sodium/hydrogen exchanger 9, Na(+)/H(+) exchanger 9, putative protein product of Nbla00118, sodium/proton exchanger NHE9, solute carrier family 9 (sodium/hydrogen exchanger), solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9,
• Gene location: 3q24 (143848491: 143265221)     Exons: 20     NC_000003.12
• Gene summary(Entrez): This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene
• OMIM: 608396

Protein Summary

• Protein general information: Q8IVB4  
  • Name: Sodium/hydrogen exchanger 9 (Na(+)/H(+) exchanger 9) (NHE 9) (Solute carrier family 9 member 9)
  • Length: 645  
  • Mass: 72565
  • Tissue specificity: Ubiquitously expressed in all tissues tested. Expressed at highest levels in heart and skeletal muscle, followed by placenta, kidney, and liver. Expressed in the brain, in the medulla and spinal cord. {ECO
• Sequence:

  MERQSRVMSEKDEYQFQHQGAVELLVFNFLLILTILTIWLFKNHRFRFLHETGGAMVYGLIMGLILRYATAPTDI
  ESGTVYDCVKLTFSPSTLLVNITDQVYEYKYKREISQHNINPHQGNAILEKMTFDPEIFFNVLLPPIIFHAGYSL
  KKRHFFQNLGSILTYAFLGTAISCIVIGLIMYGFVKAMIHAGQLKNGDFHFTDCLFFGSLMSATDPVTVLAIFHE
  LHVDPDLYTLLFGESVLNDAVAIVLTYSISIYSPKENPNAFDAAAFFQSVGNFLGIFAGSFAMGSAYAIITALLT
  KFTKLCEFPMLETGLFFLLSWSAFLSAEAAGLTGIVAVLFCGVTQAHYTYNNLSSDSKIRTKQLFEFMNFLAENV
  IFCYMGLALFTFQNHIFNALFILGAFLAIFVARACNIYPLSFLLNLGRKQKIPWNFQHMMMFSGLRGAIAFALAI
  RNTESQPKQMMFTTTLLLVFFTVWVFGGGTTPMLTWLQIRVGVDLDENLKEDPSSQHQEANNLDKNMTKAESARL
  FRMWYSFDHKYLKPILTHSGPPLTTTLPEWCGPISRLLTSPQAYGEQLKEDDVECIVNQDELAINYQEQASSPCS
  PPARLGLDQKASPQTPGKENIYEGDLGLGGYELKLEQTLGQSQLN

• Structural information:
  • Interpro: IPR006153  IPR018422  IPR002090  IPR018416  IPR004709  
  • STRING: ENSP00000320246
• Other Databases: GeneCards:  SLC9A9  Malacards:  SLC9A9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071805	potassium ion transmembrane transport	IBA	biological process
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0015386	potassium:proton antiporter activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0098719	sodium ion import across plasma membrane	IBA	biological process
GO:0055037	recycling endosome	IBA	cellular component
GO:0015385	sodium:proton antiporter activity	IBA	molecular function
GO:0006812	cation transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0015299	solute:proton antiporter activity	IEA	molecular function
GO:0015385	sodium:proton antiporter activity	IEA	molecular function
GO:0006885	regulation of pH	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0015297	antiporter activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0015385	sodium:proton antiporter activity	TAS	molecular function
GO:0031902	late endosome membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0031902	late endosome membrane	IEA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0055037	recycling endosome	IDA	cellular component

Diseases

Associated diseases	References
Autism	KEGG:H02111
Autism	KEGG:H02111
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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