Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
285195
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 9 member A9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC9A9
Synonyms (NCBI Gene) Gene synonyms aliases
AUTS16, NHE9
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AUTS16
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q24
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121912597 G>A Risk-factor Stop gained, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022577 hsa-miR-124-3p Microarray 18668037
MIRT1369204 hsa-miR-1207-5p CLIP-seq
MIRT1369205 hsa-miR-1285 CLIP-seq
MIRT1369206 hsa-miR-146b-3p CLIP-seq
MIRT1369207 hsa-miR-1913 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24705354
GO:0005886 Component Plasma membrane IBA 21873635
GO:0006811 Process Ion transport TAS
GO:0015385 Function Sodium:proton antiporter activity IBA 21873635
GO:0015385 Function Sodium:proton antiporter activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608396 20653 ENSG00000181804
Protein
UniProt ID Q8IVB4
Protein name Sodium/hydrogen exchanger 9 (Na(+)/H(+) exchanger 9) (NHE-9) (Solute carrier family 9 member 9)
Protein function Endosomal Na(+), K(+)/H(+) antiporter. Mediates the electroneutral exchange of endosomal luminal H(+) for a cytosolic Na(+) or K(+) (Probable). By facilitating proton efflux, SLC9A9 counteracts the acidity generated by vacuolar (V)-ATPase, there
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00999 Na_H_Exchanger 28 486 Sodium/hydrogen exchanger family Family
Tissue specificity 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:0000269|PubMed:14569117, ECO:
Sequence
Sequence length 645
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Sodium/Proton exchangers
Defective SLC9A9 causes autism 16 (AUTS16)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
27244217
Autism NON RARE IN EUROPE: Autism, Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
18621663
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 27244217
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 19065144 ClinVar
Autism Spectrum Disorder autism spectrum disorder GenCC
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Rheumatoid arthritis Rheumatoid arthritis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Attention Deficit Disorder with Hyperactivity Associate 18937294, 20032819, 20732626, 23527680
Auditory Perceptual Disorders Associate 23527680
Autism Spectrum Disorder Associate 23715297
Autistic Disorder Associate 23715297
Cerebellar Ataxia and Hypogonadotropic Hypogonadism Associate 25835977
Disruptive Impulse Control and Conduct Disorders Associate 20032819, 23527680
Esophageal Squamous Cell Carcinoma Associate 18649358, 25835977
Glioblastoma Associate 29268774
Leukemia Myeloid Acute Associate 36781600
Neoplasms Associate 29268774, 36781600