SLC9A7 (solute carrier family 9 member A7)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84679
Gene name Solute carrier family 9 member A7
Gene symbol SLC9A7
Synonyms (NCBI Gene)
MRX108NHE-7NHE7SLC9A6
Chromosome X
Chromosome location Xp11.3|Xp11.3
Summary This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles a
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1569507511 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
72
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (72)
miRTarBase ID miRNA Experiments Reference
MIRT017259 hsa-miR-335-5p Microarray 18185580
MIRT670529 hsa-miR-4284 HITS-CLIP 23824327
MIRT670528 hsa-miR-24-3p HITS-CLIP 23824327
MIRT670527 hsa-miR-3180 HITS-CLIP 23824327
MIRT670526 hsa-miR-3180-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 15840657
GO:0005768 Component Endosome IEA
GO:0005794 Component Golgi apparatus IEA
GO:0005802 Component Trans-Golgi network IDA 11279194, 20364249, 30335141
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300368 17123 ENSG00000065923
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96T83
Protein name Sodium/hydrogen exchanger 7 (Na(+)/H(+) exchanger 7) (NHE-7) (Solute carrier family 9 member 7)
Protein function Golgi Na(+), K(+)/(H+) antiporter. Mediates the electoneutral influx of Na(+) or K(+) in exchange for H(+). May contribute to the regulation of Golgi apparatus volume and pH.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00999 Na_H_Exchanger 77 → 534 Sodium/hydrogen exchanger family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11279194}.
Sequence
Sequence length 725
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cardiac muscle contraction   Sodium/Proton exchangers
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder, X-linked 108 Likely pathogenic rs1569507511 RCV000766217
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC9A7-related neurodevelopmental disorder Likely pathogenic rs1569507511 RCV000754991
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (13)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (123)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 31740495
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 28289928
★★★★★
★☆☆☆☆
Found in Text Mining only
AL-RAQAD SYNDROME AL-Raqad Syndrome BEFREE 30481479
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25561733 Inhibit
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Angelman Syndrome Angelman Syndrome BEFREE 18342287, 19619532, 21812100, 24285247, 24839169
★★★★★
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome LHGDN 18342287
★★★★★
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman syndrome Pubtator 18342287, 20949524 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthrogryposis Arthrogryposis multiplex congenita HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 18342287, 34791706 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only