SLC9A7 (solute carrier family 9 member A7)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84679
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 9 member A7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC9A7
Synonyms (NCBI Gene) Gene synonyms aliases
MRX108, NHE-7, NHE7, SLC9A6
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.3|Xp11.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300368 17123 ENSG00000065923
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intellectual Developmental Disorder Intellectual developmental disorder, X-linked 108 rs1569507511 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation non-syndromic X-linked intellectual disability N/A N/A GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cystinuria Type A Associate 28166740
Mental Retardation X Linked Associate 36701310