Gene Gene information from NCBI Gene database.
Entrez ID 285195
Gene name Solute carrier family 9 member A9
Gene symbol SLC9A9
Synonyms (NCBI Gene)
AUTS16NHE9
Chromosome 3
Chromosome location 3q24
Summary 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.
1
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.
213
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18057008, 24705354
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IDA 24065030
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608396 20653 ENSG00000181804
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Colorectal cancer Pathogenic rs1933531491 RCV001293845
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER ClinGen, GWAS catalog
ClinGen, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism, susceptibility to, 16 Uncertain significance; risk factor; Likely benign ClinVar
ClinVar, GenCC
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 31275360
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis GWASCAT_DG 27244217
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE Amyotrophic lateral sclerosis GWASCAT_DG 27244217
★☆☆☆☆
Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) Amyotrophic lateral sclerosis GWASCAT_DG 27244217
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis GWASCAT_DG 27244217
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder Attention Deficit Hyperactivity Disorder BEFREE 29212874
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 18937294, 20032819, 20732626, 23527680 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 20032819, 20732626, 21858920, 25875332, 29212874, 29362376
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Auditory Perceptual Disorders Auditory perceptual disorder Pubtator 23527680 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 23715297 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations