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Aliases for SLC12A9 Gene

Aliases for SLC12A9 Gene

  • Solute Carrier Family 12 Member 9 2 3 5
  • Cation-Chloride Cotransporter-Interacting Protein 1 3 4
  • Potassium-Chloride Transporter 9 3 4
  • Cation-Chloride Cotransporter 6 3 4
  • CCC-Interacting Protein 1 3 4
  • WO3.3 3 4
  • HCCC6 3 4
  • CIP1 3 4
  • CCC6 3 4
  • Solute Carrier Family 12 (Potassium/Chloride Transporters), Member 9 3
  • Cation-Chloride Cotransporter-Interacting Protein 2
  • HCIP1 4

External Ids for SLC12A9 Gene

Previous GeneCards Identifiers for SLC12A9 Gene

  • GC07P100047
  • GC07P100061
  • GC07P100095
  • GC07P100290
  • GC07P100424
  • GC07P095080

Summaries for SLC12A9 Gene

GeneCards Summary for SLC12A9 Gene

SLC12A9 (Solute Carrier Family 12 Member 9) is a Protein Coding gene. GO annotations related to this gene include cation:chloride symporter activity. An important paralog of this gene is SLC12A2.

UniProtKB/Swiss-Prot for SLC12A9 Gene

  • May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function.

Gene Wiki entry for SLC12A9 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A9 Gene

Genomics for SLC12A9 Gene

Regulatory Elements for SLC12A9 Gene

Enhancers for SLC12A9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F100873 1.2 ENCODE 15.4 +48.5 48487 2.9 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 MIR6875 PPP1R35 ACHE EPHB4 PCOLCE SLC12A9 TRIP6 MUC3A GIGYF1 AP4M1
GH07F100909 1.2 Ensembl ENCODE 14.2 +84.9 84880 3.5 HDGF ATF1 PKNOX1 ARNT ZNF121 ZNF766 GATA2 KLF13 NCOA1 MBD2 ACHE SLC12A9 MUC3A COPS6 MBLAC1 PILRB UFSP1 FIS1 MOSPD3 LOC102724094
GH07F100886 1.1 ENCODE 14.8 +62.5 62509 5.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 ZNF207 ACHE RN7SL750P RN7SL416P SLC12A9 MOSPD3 MUC3A AP4M1 AGFG2 NYAP1 MBLAC1
GH07F100894 1.1 ENCODE 14.1 +69.6 69587 4.6 HDGF PKNOX1 ARID4B DMAP1 ZNF2 ZNF143 SP3 MXD4 REST KAT8 MOSPD3 ACHE ENSG00000242798 SLC12A9 MUC3A TRIP6 AP4M1 GIGYF1 PCOLCE-AS1 STAG3L5P
GH07F100913 1 ENCODE 12.2 +87.3 87274 1.1 HDGF ATF1 PKNOX1 ARNT ZFP64 YY1 ZNF766 GATA2 ZNF202 NCOA1 GIGYF1 STAG3L5P AP4M1 ENSG00000242798 PPP1R35 PCOLCE-AS1 MUC3A PCOLCE ACTL6B SLC12A9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC12A9 on UCSC Golden Path with GeneCards custom track

Promoters for SLC12A9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000682877 -20 4001 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 KLF13

Genomic Location for SLC12A9 Gene

Chromosome:
7
Start:
100,826,820 bp from pter
End:
100,867,012 bp from pter
Size:
40,193 bases
Orientation:
Plus strand

Genomic View for SLC12A9 Gene

Genes around SLC12A9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC12A9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC12A9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A9 Gene

Proteins for SLC12A9 Gene

  • Protein details for SLC12A9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXP2-S12A9_HUMAN
    Recommended name:
    Solute carrier family 12 member 9
    Protein Accession:
    Q9BXP2
    Secondary Accessions:
    • B7Z740
    • D6W5X0
    • D6W5X2
    • F5H8C2
    • Q9BWL2
    • Q9BXP1
    • Q9BYI0
    • Q9NQR5

    Protein attributes for SLC12A9 Gene

    Size:
    914 amino acids
    Molecular mass:
    96110 Da
    Quaternary structure:
    • Interacts with SLC12A1.

    Alternative splice isoforms for SLC12A9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC12A9 Gene

Post-translational modifications for SLC12A9 Gene

  • Ubiquitination at Lys 386
  • Glycosylation at Asn 228 and Asn 243
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC12A9 Gene

Domains & Families for SLC12A9 Gene

Gene Families for SLC12A9 Gene

Protein Domains for SLC12A9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BXP2

UniProtKB/Swiss-Prot:

S12A9_HUMAN :
  • Belongs to the SLC12A transporter family.
Family:
  • Belongs to the SLC12A transporter family.
genes like me logo Genes that share domains with SLC12A9: view

Function for SLC12A9 Gene

Molecular function for SLC12A9 Gene

UniProtKB/Swiss-Prot Function:
May be an inhibitor of SLC12A1. Seems to correspond to a subunit of a multimeric transport system and thus, additional subunits may be required for its function.

Gene Ontology (GO) - Molecular Function for SLC12A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015377 cation:chloride symporter activity TAS 10871601
GO:0015379 potassium:chloride symporter activity IBA --
GO:0022820 potassium ion symporter activity IBA --
genes like me logo Genes that share ontologies with SLC12A9: view
genes like me logo Genes that share phenotypes with SLC12A9: view

Animal Model Products

miRNA for SLC12A9 Gene

miRTarBase miRNAs that target SLC12A9

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC12A9 Gene

Localization for SLC12A9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A9 Gene

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 SLC12A9 gene
Compartment Confidence
plasma membrane 5
extracellular 5

Gene Ontology (GO) - Cellular Components for SLC12A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SLC12A9: view

Pathways & Interactions for SLC12A9 Gene

SuperPathways for SLC12A9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC12A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC12A9: view

No data available for Pathways by source and SIGNOR curated interactions for SLC12A9 Gene

Transcripts for SLC12A9 Gene

Unigene Clusters for SLC12A9 Gene

Solute carrier family 12 (potassium/chloride transporters), member 9:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A9 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - - - - - -
SP2: - - - - - - - - -
SP3: - -
SP4:
SP5: - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: -
SP8: - - -
SP9: -
SP10:
SP11: -
SP12: - - - - - - - - - - - -
SP13: - - - - - -

ExUns: 15 ^ 16 ^ 17
SP1: -
SP2:
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SLC12A9 Gene

GeneLoc Exon Structure for
SLC12A9
ECgene alternative splicing isoforms for
SLC12A9

Expression for SLC12A9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC12A9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC12A9 Gene

This gene is overexpressed in Whole Blood (x15.4).

Protein differential expression in normal tissues from HIPED for SLC12A9 Gene

This gene is overexpressed in Monocytes (26.5), Heart (6.5), Peripheral blood mononuclear cells (6.2), and Placenta (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC12A9 Gene



Protein tissue co-expression partners for SLC12A9 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC12A9 Gene:

SLC12A9

SOURCE GeneReport for Unigene cluster for SLC12A9 Gene:

Hs.521087

mRNA Expression by UniProt/SwissProt for SLC12A9 Gene:

Q9BXP2-S12A9_HUMAN
Tissue specificity: Highly expressed in placenta, brain and kidney. Lower expression in lung, liver and heart.
genes like me logo Genes that share expression patterns with SLC12A9: view

Primer Products

Orthologs for SLC12A9 Gene

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

Orthologs for SLC12A9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC12A9 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia SLC12A9 34 35
  • 88.26 (n)
cow
(Bos Taurus)
Mammalia SLC12A9 34 35
  • 88.15 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC12A9 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc12a9 34 16 35
  • 85.03 (n)
rat
(Rattus norvegicus)
Mammalia Slc12a9 34
  • 83.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A9 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC12A9 34 35
  • 64.26 (n)
lizard
(Anolis carolinensis)
Reptilia SLC12A9 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498108 34
  • 56.44 (n)
zebrafish
(Danio rerio)
Actinopterygii slc12a9 34 35
  • 60.94 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1845 34
fruit fly
(Drosophila melanogaster)
Insecta CG10413 34 35
  • 50.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010249 34
  • 49.13 (n)
worm
(Caenorhabditis elegans)
Secernentea T04B8.5 34 35
  • 48.7 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL025C 34
  • 46.11 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10549g 34
  • 42.97 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VHC1 34 37
  • 42.76 (n)
-- 35
  • 25 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03784 34
  • 48.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes can1 34
  • 42.01 (n)
Species where no ortholog for SLC12A9 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 SLC12A9 Gene

ENSEMBL:
Gene Tree for SLC12A9 (if available)
TreeFam:
Gene Tree for SLC12A9 (if available)

Paralogs for SLC12A9 Gene

Paralogs for SLC12A9 Gene

genes like me logo Genes that share paralogs with SLC12A9: view

Variants for SLC12A9 Gene

Sequence variations from dbSNP and Humsavar for SLC12A9 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10268605 -- 100,863,183(+) tctta(A/G)cctcc intron-variant
rs10598573 -- 100,864,097(+) TTTTT(-/T)GGACA intron-variant
rs10630227 -- 100,851,653(+) CAGGC(-/ATG)GTGGT intron-variant, upstream-variant-2KB
rs111263123 -- 100,857,165(+) GAAGG(A/G)CAACT intron-variant, upstream-variant-2KB, reference, missense
rs111443077 -- 100,855,010(+) ATTAC(A/C)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC12A9 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
esv2759547 CNV gain+loss 17122850
nsv1020837 CNV loss 25217958
nsv5870 CNV insertion 18451855
nsv607965 CNV loss 21841781
nsv607966 CNV loss 21841781
nsv831073 CNV loss 17160897

Variation tolerance for SLC12A9 Gene

Residual Variation Intolerance Score: 6.71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.83; 34.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC12A9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC12A9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A9 Gene

Disorders for SLC12A9 Gene

Relevant External Links for SLC12A9

Genetic Association Database (GAD)
SLC12A9
Human Genome Epidemiology (HuGE) Navigator
SLC12A9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC12A9

No disorders were found for SLC12A9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC12A9 Gene

Publications for SLC12A9 Gene

  1. Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5. (PMID: 11239002) Wilson M.D. … Koop B.F. (Nucleic Acids Res. 2001) 2 3 4 64
  2. Cloning and functional characterization of a cation-Cl-cotransporter- interacting protein. (PMID: 10871601) Caron L. … Isenring P. (J. Biol. Chem. 2000) 2 3 4 64
  3. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G. … Boerwinkle E. (PLoS Genet. 2011) 3 46 64
  4. Genome-wide association analysis identifies multiple loci related to resting heart rate. (PMID: 20639392) Eijgelsheim M. … O'Donnell C.J. (Hum. Mol. Genet. 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for SLC12A9 Gene

Sources for SLC12A9 Gene

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