• Gene id: 10479

Gene Summary

• Gene Symbol: SLC9A6   Gene   UCSC   Ensembl
• Aliases: MRSA, NHE6
• Gene name: solute carrier family 9 member A6
• Alternate names: sodium/hydrogen exchanger 6, Na(+)/H(+) exchanger 6, solute carrier family 9 (sodium/hydrogen exchanger), member 6, solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6,
• Gene location: Xq26.3 (135974595: 136047268)     Exons: 19     NC_000023.11
• Gene summary(Entrez): This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated wit

Protein Summary

• Protein general information: Q92581  
  • Name: Sodium/hydrogen exchanger 6 (Na(+)/H(+) exchanger 6) (NHE 6) (Solute carrier family 9 member 6)
  • Length: 669  
  • Mass: 74162
  • Tissue specificity: Ubiquitous; but is most abundant in mitochondrion-rich tissues such as brain, skeletal muscle and heart.
• Sequence:

  MARRGWRRAPLRRGVGSSPRARRLMRPLWLLLAVGVFDWAGASDGGGGEARAMDEEIVSEKQAEESHRQDSANLL
  IFILLLTLTILTIWLFKHRRARFLHETGLAMIYGLLVGLVLRYGIHVPSDVNNVTLSCEVQSSPTTLLVTFDPEV
  FFNILLPPIIFYAGYSLKRRHFFRNLGSILAYAFLGTAISCFVIGSIMYGCVTLMKVTGQLAGDFYFTDCLLFGA
  IVSATDPVTVLAIFHELQVDVELYALLFGESVLNDAVAIVLSSSIVAYQPAGDNSHTFDVTAMFKSIGIFLGIFS
  GSFAMGAATGVVTALVTKFTKLREFQLLETGLFFLMSWSTFLLAEAWGFTGVVAVLFCGITQAHYTYNNLSTESQ
  HRTKQLFELLNFLAENFIFSYMGLTLFTFQNHVFNPTFVVGAFVAIFLGRAANIYPLSLLLNLGRRSKIGSNFQH
  MMMFAGLRGAMAFALAIRDTATYARQMMFSTTLLIVFFTVWVFGGGTTAMLSCLHIRVGVDSDQEHLGVPENERR
  TTKAESAWLFRMWYNFDHNYLKPLLTHSGPPLTTTLPACCGPIARCLTSPQAYENQEQLKDDDSDLILNDGDISL
  TYGDSTVNTEPATSSAPRRFMGNSSEDALDRELAFGDHELVIRGTRLVLPMDDSEPPLNLLDNTRHGPA

• Structural information:
  • Interpro: IPR006153  IPR018422  IPR002090  IPR004709  
  • STRING: ENSP00000359729
• Other Databases: GeneCards:  SLC9A6  Malacards:  SLC9A6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015385	sodium:proton antiporter activity	IBA	molecular function
GO:0055037	recycling endosome	IBA	cellular component
GO:0098719	sodium ion import across plasma membrane	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0015386	potassium:proton antiporter activity	IBA	molecular function
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0071805	potassium ion transmembrane transport	IBA	biological process
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:0005768	endosome	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0015297	antiporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015385	sodium:proton antiporter activity	TAS	molecular function
GO:0048675	axon extension	IDA	biological process
GO:0097484	dendrite extension	IDA	biological process
GO:0048812	neuron projection morphogenesis	IDA	biological process
GO:0006811	ion transport	TAS	biological process
GO:0031901	early endosome membrane	TAS	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0060996	dendritic spine development	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0051386	regulation of neurotrophin TRK receptor signaling pathway	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0044308	axonal spine	IEA	cellular component
GO:0043679	axon terminus	IEA	cellular component
GO:0031547	brain-derived neurotrophic factor receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0098656	anion transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	NOT|cellular component
GO:0055038	recycling endosome membrane	IDA	cellular component
GO:0031901	early endosome membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0051453	regulation of intracellular pH	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
Christianson syndrome	KEGG:H01914
Christianson syndrome	KEGG:H01914
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881