Human Gene KCNH8 (ENST00000328405.7_4) from GENCODE V47lift37
  Description: potassium voltage-gated channel subfamily H member 8 (from RefSeq NM_144633.3)
Gencode Transcript: ENST00000328405.7_4
Gencode Gene: ENSG00000183960.9_7
Transcript (Including UTRs)
   Position: hg19 chr3:19,190,002-19,577,134 Size: 387,133 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr3:19,190,212-19,575,591 Size: 385,380 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:19,190,002-19,577,134)mRNA (may differ from genome)Protein (1107 aa)
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-  Comments and Description Text from UniProtKB
  ID: KCNH8_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily H member 8; AltName: Full=ELK1; Short=hElk1; AltName: Full=Ether-a-go-go-like potassium channel 3; Short=ELK channel 3; Short=ELK3; AltName: Full=Voltage-gated potassium channel subunit Kv12.1;
FUNCTION: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.
SUBUNIT: The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Primarily expressed in the nervous system.
DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
SIMILARITY: Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.1/KCNH8 sub-subfamily.
SIMILARITY: Contains 1 cyclic nucleotide-binding domain.
SIMILARITY: Contains 1 PAC (PAS-associated C-terminal) domain.
SIMILARITY: Contains 1 PAS (PER-ARNT-SIM) domain.

-  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


-  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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.40210-0.259 Picture PostScript Text
3' UTR -404.701543-0.262 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
IPR018490 - cNMP-bd-like
IPR000595 - cNMP-bd_dom
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
IPR014710 - RmlC-like_jellyroll

Pfam Domains:
PF00027 - Cyclic nucleotide-binding domain
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 Q96L42
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 DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000155 phosphorelay sensor kinase activity
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005267 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:0034765 regulation of ion transmembrane transport
GO:0042391 regulation of membrane potential
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
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.
JD331572 - Sequence 312596 from Patent EP1572962.
BC031226 - Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8, mRNA (cDNA clone IMAGE:5261208), with apparent retained intron.
JD360540 - Sequence 341564 from Patent EP1572962.
JD483541 - Sequence 464565 from Patent EP1572962.
JD255012 - Sequence 236036 from Patent EP1572962.
JD455501 - Sequence 436525 from Patent EP1572962.
JD466945 - Sequence 447969 from Patent EP1572962.
JD449062 - Sequence 430086 from Patent EP1572962.
JD340564 - Sequence 321588 from Patent EP1572962.
JD206270 - Sequence 187294 from Patent EP1572962.
JD358177 - Sequence 339201 from Patent EP1572962.
JD307734 - Sequence 288758 from Patent EP1572962.
JD237442 - Sequence 218466 from Patent EP1572962.
JD235026 - Sequence 216050 from Patent EP1572962.
JD282034 - Sequence 263058 from Patent EP1572962.
JD383045 - Sequence 364069 from Patent EP1572962.
JD330018 - Sequence 311042 from Patent EP1572962.
JD313436 - Sequence 294460 from Patent EP1572962.
JD045097 - Sequence 26121 from Patent EP1572962.
JD375343 - Sequence 356367 from Patent EP1572962.
JD171543 - Sequence 152567 from Patent EP1572962.
JD287733 - Sequence 268757 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96L42 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z2I7, ENST00000328405.1, ENST00000328405.2, ENST00000328405.3, ENST00000328405.4, ENST00000328405.5, ENST00000328405.6, KCNH8_HUMAN, NM_144633, Q59GQ6, Q96L42, uc317smn.1, uc317smn.2
UCSC ID: ENST00000328405.7_4
RefSeq Accession: NM_144633.3
Protein: Q96L42 (aka KCNH8_HUMAN or KCH8_HUMAN)

-  Gene Model Information
  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.