SLC9C2 (solute carrier family 9 member C2 (putative))

Gene

• Entrez ID: 284525
• Gene name: Solute carrier family 9 member C2 (putative)
• Gene symbol: SLC9C2
• Synonyms (NCBI Gene): NHE11, SLC9A11
• Chromosome: 1
• Chromosome location: 1q25.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0015297	Function	Antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	IBA
GO:0015385	Function	Sodium:proton antiporter activity	IEA
GO:0015386	Function	Potassium:proton antiporter activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0051453	Process	Regulation of intracellular pH	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0098719	Process	Sodium ion import across plasma membrane	IBA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 620338
• HGNC: 28664
• e!Ensembl: ENSG00000162753

Protein

• UniProt ID: Q5TAH2
• Protein name: Sodium/hydrogen exchanger 11 (Na(+)/H(+) exchanger 11) (NHE-11) (Solute carrier family 9 member 11) (Solute carrier family 9 member C2)
• Protein function: Involved in pH regulation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00999	Na_H_Exchanger	32 → 425	Sodium/hydrogen exchanger family	Family
  PF00027	cNMP_binding	886 → 984	Cyclic nucleotide-binding domain	Domain

• Sequence:

  MSSYFWAQNESNRPDLLCGQPADYLVEEKHFTTLVCFIVVLGGLLKMCLKNCEVIVLTIL
  SLSGFVIGHMAYNSVEVHQIVYPLLRTSSFSLYSYFSPLIIFMVALDVEFYTLKKMFWQV
  LLTGLISFSTASIIIGYVVIKFNKDSWDLQSCLLFSITLGIIDPLRSVNSLKTIGISKIY
  IDLIRGESLIICSIASIFFGNFRGNRIHFSIFRDLHVGIELSYDILGSIIFGYWCAKIIQ
  CILADVFSNMLTNIILCFSMVYMTFYIVEFLGMSGTLALAAVGLNLDSLTFKPKIELVIT
  KFLRIFSSVYEHLIYAFFGIVIGCGELSHYEFHTIPFIFILFTTVNLVRLLTILLVSPIL
  MHSNYEYNWRWGVVITWSGIKGVFNLLWAPDVYNLAERKVEVPQMFILYVQVISLLTMGI
  NSYVMTQSARKLDLCVLSLPRQMILQNATQHIQEIVQNTITLFKTEKILTNVNWTLVEDK
  TRIEYIPFSHVSHNDMKTESTTDEALMEEARLHVAAIQMSSFEKQRNNGILEIEAARILI
  GAAKCYYSIQGKFMSIYDVSTYMRTRSWLIKFKNVLTFLEYCIEKIHFIPPESNTFLTFI
  FHIVFSEEFEYTGQIINLIYIYPMIIHLWPMARGLNVSALISINYYFMFLYVLESTLKII
  ILKRKYFQQCWNTLEFFILVIGIIDIFCVYFVKLRPDNLALIQLTVIMGYLRIIRFLPLF
  KIIVPILIRIADVQIKKRLSLMYSITKGYIKSQEDAKLLIKQIAVCESIYQKLCEILETN
  KQDAVKELVLMEHEGRDVVIALKTKQAIRNVIAKALKNLTFLCSRGIIDKHEVIEINKVL
  LKKLKALNNFPKAIPPPTPDIYLHNIIWLEGKDVLIDFFKERAKLACFDSGDTICKGGEM
  PQGIYLIISGMAILHSLSPTFGIESNQRCDRGSRDMFTEFCTTGDIIGELSCLLKREIEY
  TVICETSLQACFISLEDLYEGFDAFWPSLEYKIWLKLALSTAYQYFESSLIDEDLRFQNC
  VMFNQAYVETLSSYSDMIIDNMTMKFVIIVYGSVIDTKTEEPYFAPCIIPTTCEQVQGTS
  DLSKLLIIQASELTQRNSNTNVMASVNTVFEQPGKNINGRQKMS

• Sequence length: 1124

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Eosinophilic Esophagitis	Associate	29729938	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	30547318	★☆☆☆☆ Found in Text Mining only
Periodontitis	Associate	30547318	★☆☆☆☆ Found in Text Mining only