Human Gene SLC12A9 (uc011kki.2)
  Description: Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr7:100,450,603-100,464,634 Size: 14,032 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr7:100,459,078-100,464,227 Size: 5,150 Coding Exon Count: 4 

Page IndexSequence and LinksPrimersGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:100,450,603-100,464,634)mRNA (may differ from genome)Protein (445 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIPubMedUniProtKB
Wikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC12A9
CDC HuGE Published Literature: SLC12A9
Positive Disease Associations: Coronary Disease , Heart Rate
Related Studies:
  1. Coronary Disease
    Guillaume Lettre et al. PLoS genetics 2011, Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project., PLoS genetics. [PubMed 21347282]
    suggest that no major loci uniquely explain the high prevalence of CHD in African Americans.
  2. Heart Rate
    Mark Eijgelsheim et al. Human molecular genetics 2010, Genome-wide association analysis identifies multiple loci related to resting heart rate., Human molecular genetics. [PubMed 20639392]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 58.74 RPKM in Whole Blood
Total median expression: 537.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1084.142598-0.417 Picture PostScript Text
3' UTR -180.10407-0.443 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004841 - AA-permease_dom

Pfam Domains:
PF00324 - Amino acid permease
PF03522 - Solute carrier family 12

ModBase Predicted Comparative 3D Structure on D6W5X5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity

Biological Process:
GO:0006811 ion transport
GO:0055085 transmembrane transport

Cellular Component:
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK301411 - Homo sapiens cDNA FLJ61603 complete cds, highly similar to Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.
BC000154 - Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9, mRNA (cDNA clone MGC:5319 IMAGE:2900382), complete cds.
AF284422 - Homo sapiens cation-chloride cotransporter-interacting protein mRNA, complete cds.
AK128873 - Homo sapiens cDNA FLJ46905 fis, clone PLACE6000012.
AB033284 - Homo sapiens hCCC6 mRNA for cation chloride cotransporter 6, complete cds.
AK090458 - Homo sapiens mRNA for FLJ00379 protein.
KJ902928 - Synthetic construct Homo sapiens clone ccsbBroadEn_12322 SLC12A9 gene, encodes complete protein.
AK024421 - Homo sapiens mRNA for FLJ00010 protein, partial cds.
AK024420 - Homo sapiens mRNA for FLJ00009 protein, partial cds.
AK024494 - Homo sapiens mRNA for FLJ00100 protein, partial cds.
AK024466 - Homo sapiens mRNA for FLJ00059 protein, partial cds.
JD155196 - Sequence 136220 from Patent EP1572962.
JD191621 - Sequence 172645 from Patent EP1572962.
JD518594 - Sequence 499618 from Patent EP1572962.
JD343804 - Sequence 324828 from Patent EP1572962.
JD453112 - Sequence 434136 from Patent EP1572962.
JD155158 - Sequence 136182 from Patent EP1572962.
JD448110 - Sequence 429134 from Patent EP1572962.
JD351384 - Sequence 332408 from Patent EP1572962.
JD403230 - Sequence 384254 from Patent EP1572962.
AK026624 - Homo sapiens cDNA: FLJ22971 fis, clone KAT10788.
JD481921 - Sequence 462945 from Patent EP1572962.
JD404029 - Sequence 385053 from Patent EP1572962.
JD431361 - Sequence 412385 from Patent EP1572962.
JD109735 - Sequence 90759 from Patent EP1572962.
JD551262 - Sequence 532286 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK090458, D6W5X5, D6W5X5_HUMAN, hCG_20458
UCSC ID: uc011kki.2
RefSeq Accession: NM_020246
Protein: D6W5X5

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK090458.1
exon count: 9CDS single in 3' UTR: no RNA size: 4341
ORF size: 1338CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 1567.00frame shift in genome: no % Coverage: 99.95
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.