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Aliases for SLC12A9 Gene

Aliases for SLC12A9 Gene

  • Solute Carrier Family 12, Member 9 2 3
  • 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
  • CCC6 3 4
  • CIP1 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. Diseases associated with SLC12A9 include bartter disease. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SLC12A9 Gene at MOPED

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

CRISPR Products

miRNA for SLC12A9 Gene

miRTarBase miRNAs that target SLC12A9

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC12A9

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for SLC12A9 Gene COMPARTMENTS Subcellular localization image for SLC12A9 gene
Compartment Confidence
extracellular 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SLC12A9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane --
GO:0016021 integral component of membrane TAS 10871601
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 --
GO:0006821 chloride transport TAS 10871601
GO:0006884 cell volume homeostasis IBA --
GO:0010107 potassium ion import IBA --
GO:0055064 chloride ion homeostasis IBA --
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

Drugs & Compounds for SLC12A9 Gene

No Compound Related Data Available

Transcripts for SLC12A9 Gene

Unigene Clusters for SLC12A9 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC12A9

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 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, MOPED, and MaxQB for SLC12A9 Gene



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

Protein tissue co-expression partners for SLC12A9 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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
cow
(Bos Taurus)
Mammalia SLC12A9 35
  • 88.15 (n)
  • 93.11 (a)
SLC12A9 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A9 35
  • 88.26 (n)
  • 92.67 (a)
SLC12A9 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc12a9 35
  • 85.03 (n)
  • 92.66 (a)
Slc12a9 16
Slc12a9 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC12A9 35
  • 99.38 (n)
  • 99.67 (a)
SLC12A9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc12a9 35
  • 83.74 (n)
  • 91.89 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC12A9 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A9 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC12A9 35
  • 64.26 (n)
  • 59.74 (a)
SLC12A9 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC12A9 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498108 35
  • 56.44 (n)
  • 54.55 (a)
zebrafish
(Danio rerio)
Actinopterygii slc12a9 35
  • 60.94 (n)
  • 60.41 (a)
slc12a9 36
  • 59 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1845 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010249 35
  • 49.13 (n)
  • 45.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10413 35
  • 50.99 (n)
  • 45.85 (a)
CG10413 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T04B8.5 35
  • 48.7 (n)
  • 43.03 (a)
T04B8.5 36
  • 38 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL025C 35
  • 46.11 (n)
  • 37.52 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10549g 35
  • 42.97 (n)
  • 36.58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VHC1 35
  • 42.76 (n)
  • 36.89 (a)
-- 36
  • 25 (a)
OneToMany
-- 38
bread mold
(Neurospora crassa)
Ascomycetes NCU03784 35
  • 48.54 (n)
  • 37.57 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes can1 35
  • 42.01 (n)
  • 35.34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToOne
Species with no ortholog for SLC12A9:
  • 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 MAF
rs314320 -- 100,834,358(-) cccaG(A/G)GCAGT intron-variant
rs314321 -- 100,834,834(-) ctgga(A/G)tgcag intron-variant
rs314322 -- 100,834,894(-) gccac(C/G/T)gtgcc intron-variant
rs314323 -- 100,835,389(-) caggc(A/G)tgagc intron-variant
rs314324 -- 100,836,172(-) CCCCT(A/G)CTCCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2734888 CNV Deletion 23290073
dgv2119e1 CNV Complex 17122850
dgv7402n71 CNV Loss 21882294
dgv7403n71 CNV Loss 21882294
nsv831073 CNV Loss 17160897
nsv5870 CNV Insertion 18451855

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

HapMap Linkage Disequilibrium report
SLC12A9

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

Disorders for SLC12A9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC12A9 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bartter disease
  • bartter's syndrome
- elite association

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

No data available for 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 67
  2. Cloning and functional characterization of a cation-Cl-cotransporter- interacting protein. (PMID: 10871601) Caron L. … Isenring P. (J. Biol. Chem. 2000) 2 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts. (PMID: 23325410) Gagnon K.B. … Delpire E. (Am. J. Physiol., Cell Physiol. 2013) 67
  5. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. (PMID: 22990020) Huang J. … Hamsten A. (Blood 2012) 67

Products for SLC12A9 Gene

Sources for SLC12A9 Gene

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