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Aliases for SLC9A9 Gene

Aliases for SLC9A9 Gene

  • Solute Carrier Family 9, Subfamily A (NHE9, Cation Proton Antiporter 9), Member 9 2 3
  • Na(+)/H(+) Exchanger 9 3 4
  • AUTS16 3 6
  • NHE9 3 4
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 9 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 9 2
  • Solute Carrier Family 9 (Sodium/Hydrogen Exchanger) 3
  • Putative Protein Product Of Nbla00118 3
  • Solute Carrier Family 9 Member 9 4
  • Sodium/Proton Exchanger NHE9 3
  • Sodium/Hydrogen Exchanger 9 3
  • NHE-9 4

External Ids for SLC9A9 Gene

Summaries for SLC9A9 Gene

Entrez Gene Summary for SLC9A9 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 are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]

GeneCards Summary for SLC9A9 Gene

SLC9A9 (Solute Carrier Family 9, Subfamily A (NHE9, Cation Proton Antiporter 9), Member 9) is a Protein Coding gene. Diseases associated with SLC9A9 include autism susceptibility 16 and attention deficit-hyperactivity disorder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include sodium:proton antiporter activity. An important paralog of this gene is SLC9A4.

UniProtKB/Swiss-Prot for SLC9A9 Gene

  • May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC9A9 Gene

Genomics for SLC9A9 Gene

Genomic Location for SLC9A9 Gene

Start:
143,265,222 bp from pter
End:
143,848,531 bp from pter
Size:
583,310 bases
Orientation:
Minus strand

Genomic View for SLC9A9 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC9A9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC9A9 Gene

Regulatory Elements for SLC9A9 Gene

Proteins for SLC9A9 Gene

  • Protein details for SLC9A9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVB4-SL9A9_HUMAN
    Recommended name:
    Sodium/hydrogen exchanger 9
    Protein Accession:
    Q8IVB4
    Secondary Accessions:
    • A6NMQ9
    • Q3LIC2
    • Q5JPI6
    • Q5WA58
    • Q8NAB9

    Protein attributes for SLC9A9 Gene

    Size:
    645 amino acids
    Molecular mass:
    72565 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04005.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SLC9A9 Gene

Proteomics data for SLC9A9 Gene at MOPED

Post-translational modifications for SLC9A9 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn96

Other Protein References for SLC9A9 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC9A9 Gene

Domains for SLC9A9 Gene

Gene Families for SLC9A9 Gene

UniProtKB/Swiss-Prot:

SL9A9_HUMAN
Family:
  • Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family.:
    • Q8IVB4
genes like me logo Genes that share domains with SLC9A9: view

Function for SLC9A9 Gene

Molecular function for SLC9A9 Gene

UniProtKB/Swiss-Prot Function: May act in electroneutral exchange of protons for Na(+) across membranes. Involved in the effusion of Golgi luminal H(+) in exchange for cytosolic cations. Involved in organelle ion homeostasis by contributing to the maintenance of the unique acidic pH values of the Golgi and post-Golgi compartments in the cell.

Gene Ontology (GO) - Molecular Function for SLC9A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24705354
GO:0015299 solute:proton antiporter activity --
GO:0015385 sodium:proton antiporter activity IEA --
genes like me logo Genes that share ontologies with SLC9A9: view

miRNA for SLC9A9 Gene

miRTarBase miRNAs that target SLC9A9

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC9A9 Gene

Localization for SLC9A9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC9A9 Gene

Late endosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC9A9 Gene COMPARTMENTS Subcellular localization image for SLC9A9 gene
Compartment Confidence
endosome 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SLC9A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0031902 late endosome membrane TAS --
GO:0055037 recycling endosome IDA 15522866
genes like me logo Genes that share ontologies with SLC9A9: view

Pathways for SLC9A9 Gene

genes like me logo Genes that share pathways with SLC9A9: view

Gene Ontology (GO) - Biological Process for SLC9A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006812 cation transport --
GO:0006814 sodium ion transport --
GO:0006885 regulation of pH IEA --
GO:0035725 sodium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC9A9: view

Transcripts for SLC9A9 Gene

Unigene Clusters for SLC9A9 Gene

Solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC9A9 Gene

No ASD Table

Relevant External Links for SLC9A9 Gene

GeneLoc Exon Structure for
SLC9A9
ECgene alternative splicing isoforms for
SLC9A9

Expression for SLC9A9 Gene

mRNA expression in normal human tissues for SLC9A9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC9A9 Gene

SOURCE GeneReport for Unigene cluster for SLC9A9 Gene Hs.302257

mRNA Expression by UniProt/SwissProt for SLC9A9 Gene

Q8IVB4-SL9A9_HUMAN
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.
genes like me logo Genes that share expressions with SLC9A9: view

Orthologs for SLC9A9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC9A9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC9A9 36
  • 99.43 (n)
  • 99.84 (a)
SLC9A9 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC9A9 36
  • 91.56 (n)
  • 93.91 (a)
SLC9A9 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC9A9 36
  • 91.67 (n)
  • 94.25 (a)
SLC9A9 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc9a9 36
  • 86.39 (n)
  • 92.55 (a)
Slc9a9 16
Slc9a9 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC9A9 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC9A9 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc9a9 36
  • 86.49 (n)
  • 91.93 (a)
chicken
(Gallus gallus)
Aves SLC9A9 36
  • 77.2 (n)
  • 82.16 (a)
SLC9A9 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC9A9 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc9a9 36
  • 73.62 (n)
  • 79.8 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nhe3 37
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhx-5 37
  • 38 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER308C 36
  • 49.24 (n)
  • 39.09 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHX1 36
  • 48.33 (n)
  • 40.48 (a)
NHX1 37
  • 28 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01738g 36
  • 47 (n)
  • 36.8 (a)
rice
(Oryza sativa)
Liliopsida Os.5237 36
bread mold
(Neurospora crassa)
Ascomycetes NCU00453 36
  • 49.15 (n)
  • 39.53 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC15A10.06 36
  • 48.96 (n)
  • 40.14 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11991 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 54 (a)
OneToMany
Species with no ortholog for SLC9A9:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • 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)
  • zebrafish (Danio rerio)

Evolution for SLC9A9 Gene

ENSEMBL:
Gene Tree for SLC9A9 (if available)
TreeFam:
Gene Tree for SLC9A9 (if available)

Paralogs for SLC9A9 Gene

Paralogs for SLC9A9 Gene

Selected SIMAP similar genes for SLC9A9 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC9A9: view

Variants for SLC9A9 Gene

Sequence variations from dbSNP and Humsavar for SLC9A9 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs2800 -- 143,705,980(+) ATCCA(C/T)AGAAA intron-variant
rs2801 -- 143,705,945(+) GAAAG(C/T)GCTAA intron-variant
rs708484 -- 143,464,160(+) TCTTG(G/T)GTTTC intron-variant
rs708485 -- 143,498,517(+) ccact(A/G)cactc intron-variant
rs716346 -- 143,549,740(+) GATGC(A/G)TTATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC9A9 Gene

Variant ID Type Subtype PubMed ID
dgv1516e1 CNV Complex 17122850
nsv520125 CNV Loss 19592680
nsv877564 CNV Loss 21882294
nsv877565 CNV Gain 21882294
esv2661107 CNV Deletion 23128226
esv2653887 CNV Deletion 19546169
nsv822273 CNV Loss 20364138
nsv513082 CNV Loss 21212237
esv1190500 CNV Deletion 17803354
esv1701091 CNV Deletion 17803354
esv1621744 CNV Deletion 17803354
esv32611 CNV Gain 17666407
esv274176 CNV Insertion 20981092
nsv511204 CNV Loss 21212237
nsv523529 CNV Loss 19592680
nsv10334 CNV Loss 18304495
nsv513083 CNV Loss 21212237
esv2661666 CNV Deletion 23128226
esv33993 CNV Loss 17666407
esv27203 CNV Loss 19812545
nsv518873 CNV Loss 19592680
esv2750736 CNV Loss 17666407
nsv829745 CNV Gain 17160897
nsv877566 CNV Gain 21882294
nsv877567 CNV Gain 21882294
nsv4041 CNV Insertion 18451855

Relevant External Links for SLC9A9 Gene

HapMap Linkage Disequilibrium report
SLC9A9
Human Gene Mutation Database (HGMD)
SLC9A9

Disorders for SLC9A9 Gene

(1) OMIM Diseases for SLC9A9 Gene (608396)

UniProtKB/Swiss-Prot

SL9A9_HUMAN
  • Note=A chromosomal aberration involving SLC9A9 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9.
  • Autism 16 (AUTS16) [MIM:613410]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. AUTS16 can be associated with epilepsy. {ECO:0000269 PubMed:18621663}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SLC9A9 Gene

Relevant External Links for SLC9A9

Genetic Association Database (GAD)
SLC9A9
Human Genome Epidemiology (HuGE) Navigator
SLC9A9
genes like me logo Genes that share disorders with SLC9A9: view

Publications for SLC9A9 Gene

  1. Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. (PMID: 14569117) De Silva M.G. … Forrest S. (J. Med. Genet. 2003) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Four Na+/H+ exchanger isoforms are distributed to Golgi and post- Golgi Compartments and are involved in organelle pH regulation. (PMID: 15522866) Nakamura N. … Kanazawa H. (J. Biol. Chem. 2005) 3 4
  5. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PMID: 17903302) Levy D. … Mitchell G.F. (BMC Med. Genet. 2007) 3 49

Products for SLC9A9 Gene

Sources for SLC9A9 Gene

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