SLCtables

SLC9A9

Protein name: NHE9 Aliases: N/D Substrates: Na+, K+, H+ Transport type: Exchanger / Na+ (K+), H+ Tissue and cellular expression: Brain Subcellular expression: N/D Disease: Familial autism, attention deficit hyperactivity disorder (ADHD), cancer (?) [PMID: 25662504] Locus: 3q24 Sequence ID: NP_775924.1, NM_173653.3 Gene ID: 285195 Splice variants: N/D

SL9A9_HUMAN (UniProt)

Gene names: SLC9A9, NHE9, Nbla00118
Protein names and data: SL9A9_HUMAN, Full=Sodium/hydrogen exchanger 9, Full=Na(+)/H(+) exchanger 9;Short=NHE-9;Full=Solute carrier family 9 member 9; Length: 645 a.a., Mass: 72565 Da,
fasta formatted sequence
Function: May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell
Disease: (OMIM: 608396 613410) Note=A chromosomal aberration involving SLC9A9 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9; Defects in SLC9A9 are a cause of susceptibility to autism type 16 (AUTS16) [MIM:613410]. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. AUTS16 can be associated with epilepsy
Cellular location: Late endosome membrane; Multi-pass membrane protein
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

Database cross-references

UniProt: Q8IVB4
NextBio: 95343
OMIM: 608396 613410
Ensembl: ENST00000316549
GeneCard: GC03M143265
PharmGenUCSF: SLC9A9
Guide to Pharmacology: SLC9A9 (956)
SLC9 family of sodium/hydrogen exchangers (956)
HGNC: HGNC:20653

Genetic variants

See also Ensembl:ENST00000316549

540 - 540 I -> V (in dbSNP:rs16853300). VAR_050232 16853300
589 - 589 I -> V (in dbSNP:rs2289491). VAR_022114 2289491