Human Gene KCNH8 (uc011awe.1)
  Description: Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.
RefSeq Summary (NM_144633): Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr3:19,190,017-19,492,896 Size: 302,880 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr3:19,190,212-19,491,851 Size: 301,640 Coding Exon Count: 9 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:19,190,017-19,492,896)mRNA (may differ from genome)Protein (542 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHuman Cortex Gene ExpressionLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  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): KCNH8
CDC HuGE Published Literature: KCNH8
Positive Disease Associations: Cystatins , Erythrocyte Indices , Hip , hip geometry , Pancreatic Neoplasms
Related Studies:
  1. Cystatins
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
  2. Erythrocyte Indices
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
  3. Erythrocyte Indices
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: KCNH8
Diseases sorted by gene-association score: exudative vitreoretinopathy (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 12.66 RPKM in Pituitary
Total median expression: 70.94 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 -49.86195-0.256 Picture PostScript Text
3' UTR -258.211045-0.247 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
IPR005821 - Ion_trans_dom
IPR003938 - K_chnl_volt-dep_EAG/ELK/ERG
IPR003950 - K_chnl_volt-dep_ELK
IPR001610 - PAC
IPR000014 - PAS
IPR000700 - PAS-assoc_C

Pfam Domains:
PF00520 - Ion transport protein
PF00989 - PAS fold
PF07885 - Ion channel
PF08447 - PAS fold
PF08448 - PAS fold
PF13426 - PAS domain

SCOP Domains:
51206 - cAMP-binding domain-like
55785 - PYP-like sensor domain (PAS domain)
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on B7Z398
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-  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 Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000155 phosphorelay sensor kinase activity
GO:0005216 ion channel activity
GO:0005249 voltage-gated potassium channel activity

Biological Process:
GO:0000160 phosphorelay signal transduction system
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0023014 signal transduction by protein phosphorylation
GO:0034220 ion transmembrane transport
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport

Cellular Component:
GO:0005622 intracellular
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK295633 - Homo sapiens cDNA FLJ50012 complete cds, highly similar to Potassium voltage-gated channel subfamily H member 8.
AY053503 - Homo sapiens ether-a-go-go-like potassium channel 1 mRNA, complete cds.
AB209053 - Homo sapiens mRNA for potassium voltage-gated channel, subfamily H, member 8 variant protein.
AK309034 - Homo sapiens cDNA, FLJ99075.
BC152893 - Synthetic construct Homo sapiens clone IMAGE:100016164, MGC:184118 potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8) mRNA, encodes complete protein.
AK294417 - Homo sapiens cDNA FLJ50075 complete cds, highly similar to Potassium voltage-gated channel subfamily H member 8.
JD480012 - Sequence 461036 from Patent EP1572962.
JD418753 - Sequence 399777 from Patent EP1572962.
JD259279 - Sequence 240303 from Patent EP1572962.
JD418493 - Sequence 399517 from Patent EP1572962.
JD219587 - Sequence 200611 from Patent EP1572962.
AK294759 - Homo sapiens cDNA FLJ57487 complete cds, highly similar to Potassium voltage-gated channel subfamily H member 8.

-  Other Names for This Gene
  Alternate Gene Symbols: AK295633, B7Z398, B7Z398_HUMAN, NM_144633, NP_653234
UCSC ID: uc011awe.1
RefSeq Accession: NM_144633
Protein: B7Z398

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK295633.1
exon count: 9CDS single in 3' UTR: no RNA size: 2009
ORF size: 1629CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 3430.00frame shift in genome: no % Coverage: 97.66
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.