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 along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part o... See more...

Aliases for SLC9A7 Gene

Aliases for SLC9A7 Gene

  • Solute Carrier Family 9 Member A7 2 3 5
  • Solute Carrier Family 9, Subfamily A (NHE7, Cation Proton Antiporter 7), Member 7 2 3
  • Sodium/Hydrogen Exchanger 7 3 4
  • Na(+)/H(+) Exchanger 7 3 4
  • NHE-7 3 4
  • NHE7 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 7 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 7 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger) 3
  • Nonselective Sodium Potassium/Proton Exchanger 3
  • Solute Carrier Family 9 Member 7 4
  • MRX108 3
  • SLC9A6 3

External Ids for SLC9A7 Gene

Previous GeneCards Identifiers for SLC9A7 Gene

  • GC0XM045269
  • GC0XM044726
  • GC0XM045292
  • GC0XM045512
  • GC0XM046222
  • GC0XM046349
  • GC0XM046464
  • GC0XM044177

Summaries for SLC9A7 Gene

Entrez Gene Summary for SLC9A7 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 along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

GeneCards Summary for SLC9A7 Gene

SLC9A7 (Solute Carrier Family 9 Member A7) is a Protein Coding gene. Diseases associated with SLC9A7 include Intellectual Developmental Disorder, X-Linked 108 and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and sodium:proton antiporter activity. An important paralog of this gene is SLC9A6.

UniProtKB/Swiss-Prot Summary for SLC9A7 Gene

  • Mediates electroneutral exchange of protons for Na(+) and K(+) across endomembranes. May contribute to the regulation of Golgi apparatus volume and pH.

Additional gene information for SLC9A7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC9A7 Gene

Genomics for SLC9A7 Gene

GeneHancer (GH) Regulatory Elements for SLC9A7 Gene

Promoters and enhancers for SLC9A7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC9A7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC9A7

Top Transcription factor binding sites by QIAGEN in the SLC9A7 gene promoter:
  • AML1a
  • Evi-1
  • GATA-3
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • RFX1

Genomic Locations for SLC9A7 Gene

Genomic Locations for SLC9A7 Gene
chrX:46,599,246-46,759,172
(GRCh38/hg38)
Size:
159,927 bases
Orientation:
Minus strand
chrX:46,464,753-46,618,490
(GRCh37/hg19)
Size:
153,738 bases
Orientation:
Minus strand

Genomic View for SLC9A7 Gene

Genes around SLC9A7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC9A7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC9A7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A7 Gene

Proteins for SLC9A7 Gene

  • Protein details for SLC9A7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T83-SL9A7_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 7
    Protein Accession:
    Q96T83
    Secondary Accessions:
    • O75827
    • Q5JXP9

    Protein attributes for SLC9A7 Gene

    Size:
    725 amino acids
    Molecular mass:
    80131 Da
    Quaternary structure:
    • Interacts with SCAMP1, SCAMP2 and SCAMP5; may participate in its shuttling from trans-Golgi network to recycling endosomes.
    Miscellaneous:
    • Is not inhibited by amiloride but by benzamil and quinine.

neXtProt entry for SLC9A7 Gene

Post-translational modifications for SLC9A7 Gene

No data available for DME Specific Peptides for SLC9A7 Gene

Domains & Families for SLC9A7 Gene

Gene Families for SLC9A7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC9A7 Gene

Blocks:
  • Na+/H+ exchanger isoform 6 (NHE6) signature
  • Na+/H+ exchanger signature
  • Sodium/hydrogen exchanger
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC9A7 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 9 member 7 (SL9A7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96T83

UniProtKB/Swiss-Prot:

SL9A7_HUMAN :
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
Family:
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.
genes like me logo Genes that share domains with SLC9A7: view

Function for SLC9A7 Gene

Molecular function for SLC9A7 Gene

UniProtKB/Swiss-Prot Function:
Mediates electroneutral exchange of protons for Na(+) and K(+) across endomembranes. May contribute to the regulation of Golgi apparatus volume and pH.

Gene Ontology (GO) - Molecular Function for SLC9A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15840657
GO:0015297 antiporter activity IEA --
GO:0015299 solute:proton antiporter activity IEA --
GO:0015385 sodium:proton antiporter activity IDA,IEA 11279194
GO:0015386 potassium:proton antiporter activity IDA 11279194
genes like me logo Genes that share ontologies with SLC9A7: view
genes like me logo Genes that share phenotypes with SLC9A7: view

Human Phenotype Ontology for SLC9A7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC9A7

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC9A7 Gene

Localization for SLC9A7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A7 Gene

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC9A7 gene
Compartment Confidence
plasma membrane 5
endosome 5
golgi apparatus 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SLC9A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005623 cell IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 11279194
genes like me logo Genes that share ontologies with SLC9A7: view

Pathways & Interactions for SLC9A7 Gene

genes like me logo Genes that share pathways with SLC9A7: view

Gene Ontology (GO) - Biological Process for SLC9A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA,TAS --
GO:0006812 cation transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006885 regulation of pH IDA,IEA 11279194
genes like me logo Genes that share ontologies with SLC9A7: view

No data available for SIGNOR curated interactions for SLC9A7 Gene

Drugs & Compounds for SLC9A7 Gene

No Compound Related Data Available

Transcripts for SLC9A7 Gene

mRNA/cDNA for SLC9A7 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC9A7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A7 Gene

No ASD Table

Relevant External Links for SLC9A7 Gene

GeneLoc Exon Structure for
SLC9A7

Expression for SLC9A7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC9A7 Gene

mRNA differential expression in normal tissues according to GTEx for SLC9A7 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.4).

Protein differential expression in normal tissues from HIPED for SLC9A7 Gene

This gene is overexpressed in Blymphocyte (23.0), Platelet (21.1), Retina (12.6), and Lung (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC9A7 Gene



Protein tissue co-expression partners for SLC9A7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC9A7

mRNA Expression by UniProt/SwissProt for SLC9A7 Gene:

Q96T83-SL9A7_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with SLC9A7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC9A7 Gene

Orthologs for SLC9A7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC9A7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC9A7 31 30
  • 97.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC9A7 31
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC9A7 31 30
  • 91.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A7 31 30
  • 90.86 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a7 17 31 30
  • 89.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A7 31
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC9A7 31 30
  • 78.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC9A7 31
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a7 30
  • 76.23 (n)
zebrafish
(Danio rerio)
Actinopterygii slc9a7 31 30
  • 73.29 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Nhe3 31 32
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhx-5 31
  • 41 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHX1 31
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToMany
Species where no ortholog for SLC9A7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC9A7 Gene

ENSEMBL:
Gene Tree for SLC9A7 (if available)
TreeFam:
Gene Tree for SLC9A7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC9A7: view image

Paralogs for SLC9A7 Gene

(2) SIMAP similar genes for SLC9A7 Gene using alignment to 1 proteins:

  • SL9A7_HUMAN

Pseudogenes.org Pseudogenes for SLC9A7 Gene

genes like me logo Genes that share paralogs with SLC9A7: view

Variants for SLC9A7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC9A7 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1569507511 Likely Pathogenic: SLC9A7-related neurodevelopmental disorder; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108; not provided 46,643,309(-) G/A MISSENSE_VARIANT
VAR_082101 Intellectual developmental disorder, X-linked 108 (MRX108) [MIM:301024] p.Leu515Phe

Additional dbSNP identifiers (rs#s) for SLC9A7 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC9A7 Gene

Variant ID Type Subtype PubMed ID
dgv4235n106 CNV duplication 24896259
esv3576853 CNV gain 25503493
nsv1078669 CNV duplication 25765185
nsv1147423 CNV duplication 26484159
nsv6884 CNV insertion 18451855
nsv6885 CNV deletion 18451855

Variation tolerance for SLC9A7 Gene

Residual Variation Intolerance Score: 26.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC9A7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC9A7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC9A7 Gene

Disorders for SLC9A7 Gene

MalaCards: The human disease database

(19) MalaCards diseases for SLC9A7 Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
intellectual developmental disorder, x-linked 108
  • mrx108
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
christianson syndrome
  • mental retardation, x-linked, syndromic, christianson type
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
  • mental retardation, x-linked 60, formerly; mrx60, formerly
cystinuria
  • csnu
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SL9A7_HUMAN
  • Intellectual developmental disorder, X-linked 108 (MRX108) [MIM:301024]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:30335141}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC9A7

genes like me logo Genes that share disorders with SLC9A7: view

No data available for Genatlas for SLC9A7 Gene

Publications for SLC9A7 Gene

  1. Molecular cloning and characterization of a novel (Na+,K+)/H+ exchanger localized to the trans-Golgi network. (PMID: 11279194) Numata M … Orlowski J (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. (PMID: 30335141) Khayat W … Orlowski J (Human molecular genetics 2019) 3 4 54
  3. A membrane-proximal region in the C-terminal tail of NHE7 is required for its distribution in the trans-Golgi network, distinct from NHE6 localization at endosomes. (PMID: 20364249) Fukura N … Kanazawa H (The Journal of membrane biology 2010) 3 23 54
  4. Identification and biochemical characterization of the SLC9A7 interactome. (PMID: 18654930) Kagami T … Numata M (Molecular membrane biology 2008) 3 23 54
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 54

Products for SLC9A7 Gene

Sources for SLC9A7 Gene