SLC9B2 (solute carrier family 9 member B2)

Gene

• Entrez ID: 133308
• Gene name: Solute carrier family 9 member B2
• Gene symbol: SLC9B2
• Synonyms (NCBI Gene): NHA2, NHE10, NHEDC2
• Chromosome: 4
• Chromosome location: 4q24
• Summary: Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IDA	18000046, 18508966, 36177733
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IDA	18508966, 36177733
GO:0006814	Process	Sodium ion transport	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0010348	Function	Lithium:proton antiporter activity	IDA	36177733
GO:0010348	Function	Lithium:proton antiporter activity	IMP	18000046, 28154142
GO:0010351	Process	Lithium ion transport	IDA	36177733
GO:0015297	Function	Antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	EXP	28154142
GO:0015385	Function	Sodium:proton antiporter activity	IDA	36177733
GO:0015385	Function	Sodium:proton antiporter activity	IEA
GO:0015385	Function	Sodium:proton antiporter activity	IMP	18000046, 28154142
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	18508966
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042802	Function	Identical protein binding	IPI	28071645
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0055037	Component	Recycling endosome	IEA
GO:0055037	Component	Recycling endosome	ISS
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0055078	Process	Sodium ion homeostasis	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	IEA
GO:0097228	Component	Sperm principal piece	IEA
GO:0097228	Component	Sperm principal piece	ISS
GO:0097708	Component	Intracellular vesicle	IEA
GO:0098662	Process	Inorganic cation transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:2001206	Process	Positive regulation of osteoclast development	IEA

Other IDs

• MIM: 611789
• HGNC: 25143
• e!Ensembl: ENSG00000164038

Protein

• UniProt ID: Q86UD5
• Protein name: Sodium/hydrogen exchanger 9B2 (Na(+)/H(+) exchanger NHA2) (Na(+)/H(+) exchanger-like domain-containing protein 2) (NHE domain-containing protein 2) (Sodium/hydrogen exchanger-like domain-containing protein 2) (Solute carrier family 9 subfamily B member 2)
• Protein function: Electroneutral Na(+) Li(+)/H(+) antiporter that extrudes Na(+) or Li(+) in exchange for external protons across the membrane (PubMed:18000046, PubMed:18508966, PubMed:22948142, PubMed:28154142, PubMed:36177733). Uses the proton gradient/membrane
• PDB: 7B4L, 7B4M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00999	Na_H_Exchanger	115 → 518	Sodium/hydrogen exchanger family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:18508966). High levels detected in the distal tubules of the kidney nephron (PubMed:18508966). Detected in red blood cells (at protein level) (PubMed:18000046, PubMed:18508966). {ECO:0000269|PubMed:18000046, EC
• Sequence:

  MGDEDKRITYEDSEPSTGMNYTPSMHQEAQEETVMKLKGIDANEPTEGSILLKSSEKKLQ
  ETPTEANHVQRLRQMLACPPHGLLDRVITNVTIIVLLWAVVWSITGSECLPGGNLFGIII
  LFYCAIIGGKLLGLIKLPTLPPLPSLLGMLLAGFLIRNIPVINDNVQIKHKWSSSLRSIA
  LSIILVRAGLGLDSKALKKLKGVCVRLSMGPCIVEACTSALLAHYLLGLPWQWGFILGFV
  LGAVSPAVVVPSMLLLQGGGYGVEKGVPTLLMAAGSFDDILAITGFNTCLGIAFSTGSTV
  FNVLRGVLEVVIGVATGSVLGFFIQYFPSRDQDKLVCKRTFLVLGLSVLAVFSSVHFGFP
  GSGGLCTLVMAFLAGMGWTSEKAEVEKIIAVAWDIFQPLLFGLIGAEVSIASLRPETVGL
  CVATVGIAVLIRILTTFLMVCFAGFNLKEKIFISFAWLPKATVQAAIGSVALDTARSHGE
  KQLEDYGMDVLTVAFLSILITAPIGSLLIGLLGPRLLQKVEHQNKDEEVQGETSVQV

• Sequence length: 537

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
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	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
Essential Hypertension	Associate	20053353	★☆☆☆☆ Found in Text Mining only
Hypertension	Associate	20053353	★☆☆☆☆ Found in Text Mining only
Inflammation	Stimulate	22419871	★☆☆☆☆ Found in Text Mining only