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KCNH2

GENERAL INFORMATION

Gene name

 KCNH2

Gene description

 Potassium channel, voltage gated eag related subfamily H, member 2

Protein class

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

Predicted localization

 Membrane

Number of transcripts

 3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (bone marrow, testis)
GTEx:Tissue enhanced (pituitary gland)
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (bone marrow, testis)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pituitary gland)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 KCNH2 (HGNC Symbol)

Synonyms

 erg1, HERG, Kv11.1, LQT2

Description

 Potassium channel, voltage gated eag related subfamily H, member 2 (HGNC Symbol)

Entrez gene summary

 This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

Chromosome

 7

Cytoband

 q36.1

Chromosome location (bp)

 150944961 - 150978315

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000055118 (version 83.38)

Entrez gene

 3757

UniProt

 Q12809 (UniProt - Evidence at protein level)

neXtProt

 NX_Q12809

Antibodypedia

 KCNH2 antibodies

PROTEIN BROWSER
KCNH2-001
KCNH2-004
KCNH2-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
KCNH2-001
ENSP00000262186
ENST00000262186
Q12809 [Direct mapping]
Potassium voltage-gated channel subfamily H member 2
A0A090N8Q0 [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
Protein evidence (Kim et al 2014)
Show all
GO:0000155 [phosphorelay sensor kinase activity]
GO:0000160 [phosphorelay signal transduction system]
GO:0003064 [regulation of heart rate by hormone]
GO:0005216 [ion channel activity]
GO:0005242 [inward rectifier potassium channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0005515 [protein binding]
GO:0005635 [nuclear envelope]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0007268 [synaptic transmission]
GO:0008076 [voltage-gated potassium channel complex]
GO:0009986 [cell surface]
GO:0016020 [membrane]
GO:0023014 [signal transduction by protein phosphorylation]
GO:0031625 [ubiquitin protein ligase binding]
GO:0035690 [cellular response to drug]
GO:0042391 [regulation of membrane potential]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
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:0071435 [potassium ion export]
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: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: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:1902303 [negative regulation of potassium ion export]
Show all
 1159 aa
126.7 kDa 		No 5
KCNH2-004
ENSP00000328531
ENST00000330883
Q12809 [Direct mapping]
Potassium voltage-gated channel subfamily H member 2
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
Show all
GO:0000155 [phosphorelay sensor kinase activity]
GO:0000160 [phosphorelay signal transduction system]
GO:0003064 [regulation of heart rate by hormone]
GO:0005216 [ion channel activity]
GO:0005242 [inward rectifier potassium channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0007268 [synaptic transmission]
GO:0008076 [voltage-gated potassium channel complex]
GO:0009986 [cell surface]
GO:0016020 [membrane]
GO:0023014 [signal transduction by protein phosphorylation]
GO:0031625 [ubiquitin protein ligase binding]
GO:0035690 [cellular response to drug]
GO:0042391 [regulation of membrane potential]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
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:0071435 [potassium ion export]
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: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: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:1902303 [negative regulation of potassium ion export]
Show all
 819 aa
90.1 kDa 		No 5
KCNH2-201
ENSP00000387657
ENST00000430723
Q86U57 [Direct mapping]
Potassium voltage-gated channel subfamily H member 2; Potassium voltage-gated channel, subfamily H (Eag-related), member 2
Show all
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
Show all
GO:0000155 [phosphorelay sensor kinase activity]
GO:0000160 [phosphorelay signal transduction system]
GO:0005216 [ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005622 [intracellular]
GO:0005887 [integral component of plasma membrane]
GO:0006811 [ion transport]
GO:0016020 [membrane]
GO:0023014 [signal transduction by protein phosphorylation]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
 772 aa
85.2 kDa 		No 5

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.