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KCNH2
HPA
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  • KCNH2
PROTEIN SUMMARY GENE INFORMATION RNA DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

KCNH2
Synonyms erg1, HERG, Kv11.1, LQT2
Gene descriptioni

Full gene name according to HGNC.

Potassium voltage-gated channel subfamily H member 2
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
FDA approved drug targets
Human disease related genes
Plasma proteins
Transporters
Voltage-gated ion channels
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 7
Cytoband q36.1
Chromosome location (bp) 150944961 - 150978321
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

2
Ensembl ENSG00000055118 (version 109)
Entrez gene 3757
HGNC HGNC:6251
UniProt Q12809 (UniProt - Evidence at protein level)
neXtProt NX_Q12809
GeneCards KCNH2
Antibodypedia KCNH2 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr) 1, 2, 3.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Ion channel, Potassium channel, Voltage-gated channel
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Ion transport, Potassium transport, Transport
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Potassium
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
KCNH2-201
ENSP00000262186
ENST00000262186
Q12809
[Direct mapping] Potassium voltage-gated channel subfamily H member 2
Show all
A0A090N8Q0
[Target identity:100%; Query identity:100%] Potassium voltage-gated channel subfamily H member 2
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Potassium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   5TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0000976 [transcription cis-regulatory region binding]
GO:0003064 [regulation of heart rate by hormone]
GO:0005216 [ion channel activity]
GO:0005242 [inward rectifier potassium channel activity]
GO:0005244 [voltage-gated ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0005267 [potassium channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0008076 [voltage-gated potassium channel complex]
GO:0009986 [cell surface]
GO:0016020 [membrane]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034765 [regulation of ion transmembrane transport]
GO:0042391 [regulation of membrane potential]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055075 [potassium ion homeostasis]
GO:0055085 [transmembrane transport]
GO:0055131 [C3HC4-type RING finger domain binding]
GO:0060048 [cardiac muscle contraction]
GO:0060306 [regulation of membrane repolarization]
GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization]
GO:0071466 [cellular response to xenobiotic stimulus]
GO:0071805 [potassium ion transmembrane transport]
GO:0086005 [ventricular cardiac muscle cell action potential]
GO:0086008 [voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization]
GO:0086009 [membrane repolarization]
GO:0086010 [membrane depolarization during action potential]
GO:0086011 [membrane repolarization during action potential]
GO:0086013 [membrane repolarization during cardiac muscle cell action potential]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:0097110 [scaffold protein binding]
GO:0097623 [potassium ion export across plasma membrane]
GO:0098915 [membrane repolarization during ventricular cardiac muscle cell action potential]
GO:1901379 [regulation of potassium ion transmembrane transport]
GO:1901380 [negative regulation of potassium ion transmembrane transport]
GO:1901381 [positive regulation of potassium ion transmembrane transport]
GO:1902282 [voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization]
GO:1902937 [inward rectifier potassium channel complex]
GO:1903765 [negative regulation of potassium ion export across plasma membrane]
GO:1990573 [potassium ion import across plasma membrane]
Show all
1159 aa
126.7 kDa
No 5
KCNH2-202
ENSP00000328531
ENST00000330883
Q12809
[Direct mapping] Potassium voltage-gated channel subfamily H member 2
Show all
A0A090N7X5
[Target identity:100%; Query identity:100%] Potassium voltage-gated channel, subfamily H (Eag-related), member 2
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Potassium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   5TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
   DeepTMHMM predicted membrane proteins
Show all
GO:0000976 [transcription cis-regulatory region binding]
GO:0003064 [regulation of heart rate by hormone]
GO:0005216 [ion channel activity]
GO:0005242 [inward rectifier potassium channel activity]
GO:0005244 [voltage-gated ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0005267 [potassium channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0008076 [voltage-gated potassium channel complex]
GO:0009986 [cell surface]
GO:0016020 [membrane]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0042391 [regulation of membrane potential]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0048471 [perinuclear region of cytoplasm]
GO:0055075 [potassium ion homeostasis]
GO:0055085 [transmembrane transport]
GO:0055131 [C3HC4-type RING finger domain binding]
GO:0060048 [cardiac muscle contraction]
GO:0060306 [regulation of membrane repolarization]
GO:0060307 [regulation of ventricular cardiac muscle cell membrane repolarization]
GO:0071466 [cellular response to xenobiotic stimulus]
GO:0071805 [potassium ion transmembrane transport]
GO:0086005 [ventricular cardiac muscle cell action potential]
GO:0086008 [voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization]
GO:0086009 [membrane repolarization]
GO:0086010 [membrane depolarization during action potential]
GO:0086011 [membrane repolarization during action potential]
GO:0086013 [membrane repolarization during cardiac muscle cell action potential]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:0097110 [scaffold protein binding]
GO:0097623 [potassium ion export across plasma membrane]
GO:0098915 [membrane repolarization during ventricular cardiac muscle cell action potential]
GO:1901379 [regulation of potassium ion transmembrane transport]
GO:1901380 [negative regulation of potassium ion transmembrane transport]
GO:1901381 [positive regulation of potassium ion transmembrane transport]
GO:1902282 [voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization]
GO:1902937 [inward rectifier potassium channel complex]
GO:1903765 [negative regulation of potassium ion export across plasma membrane]
GO:1990573 [potassium ion import across plasma membrane]
Show all
819 aa
90.1 kDa
No 5

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