Human Gene SLC12A8 (uc010hrz.1)
  Description: Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.
RefSeq Summary (NM_024628): This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010].
Transcript (Including UTRs)
   Position: hg19 chr3:124,837,613-124,931,609 Size: 93,997 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr3:124,837,624-124,896,803 Size: 59,180 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:124,837,613-124,931,609)mRNA (may differ from genome)Protein (173 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
ExonPrimerGeneCardsGeneNetworkH-INVHGNCLynx
MalacardsMGIPubMedWikipedia

-  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): SLC12A8
CDC HuGE Published Literature: SLC12A8
Positive Disease Associations: Triglycerides
Related Studies:
  1. Triglycerides
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC12A8
Diseases sorted by gene-association score: psoriasis (7)

-  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: 15.87 RPKM in Thyroid
Total median expression: 74.30 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 -188.20410-0.459 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.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AF390442 - Homo sapiens solute carrier family 12 member 8 (SLC12A8) mRNA, partial cds.
AX721165 - Sequence 125 from Patent WO0220754.
AK123001 - Homo sapiens cDNA FLJ16790 fis, clone T1ESE2002665, highly similar to Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), mRNA.
CR749632 - Homo sapiens mRNA; cDNA DKFZp686L18248 (from clone DKFZp686L18248).
AK131070 - Homo sapiens cDNA FLJ29036 fis, clone SLV00594.
BC126158 - Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8, mRNA (cDNA clone MGC:161436 IMAGE:8991874), complete cds.
BC126160 - Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8, mRNA (cDNA clone MGC:161438 IMAGE:8991876), complete cds.
AF345197 - Homo sapiens cation-chloride cotransporter 9 mRNA, complete cds.
HQ258349 - Synthetic construct Homo sapiens clone IMAGE:100072658 solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8) (SLC12A8) gene, encodes complete protein.
KJ899808 - Synthetic construct Homo sapiens clone ccsbBroadEn_09202 SLC12A8 gene, encodes complete protein.
BX538023 - Homo sapiens mRNA; cDNA DKFZp686J0469 (from clone DKFZp686J0469).
BC063528 - Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8, mRNA (cDNA clone IMAGE:4385709), complete cds.
AK026841 - Homo sapiens cDNA: FLJ23188 fis, clone LNG12038.
AK308484 - Homo sapiens cDNA, FLJ98525.
JD402592 - Sequence 383616 from Patent EP1572962.
JD239192 - Sequence 220216 from Patent EP1572962.
JD280280 - Sequence 261304 from Patent EP1572962.
JD278439 - Sequence 259463 from Patent EP1572962.
JD334014 - Sequence 315038 from Patent EP1572962.
JD294707 - Sequence 275731 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AX721165
UCSC ID: uc010hrz.1
RefSeq Accession: NM_024628

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AX721165.1
exon count: 8CDS single in 3' UTR: no RNA size: 3194
ORF size: 522CDS single in intron: no Alignment % ID: 99.09
txCdsPredict score: 936.50frame shift in genome: no % Coverage: 28.40
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # 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.