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Kcnh2 potassium voltage-gated channel, subfamily H (eag-related), member 2 [ Mus musculus (house mouse) ]

Gene ID: 16511, updated on 12-May-2024

Summary

Official Symbol
Kcnh2provided by MGI
Official Full Name
potassium voltage-gated channel, subfamily H (eag-related), member 2provided by MGI
Primary source
MGI:MGI:1341722
See related
Ensembl:ENSMUSG00000038319 AllianceGenome:MGI:1341722
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
LQT; ERG1; Lqt2; M-erg; Merg1; merg1a; merg1b
Summary
Enables inward rectifier potassium channel activity. Acts upstream of or within potassium ion transmembrane transport; regulation of heart rate by cardiac conduction; and regulation of ventricular cardiac muscle cell membrane repolarization. Located in cytoplasm; nuclear envelope; and plasma membrane. Is expressed in several structures, including brain; early conceptus; gonad; heart; and retina. Used to study short QT syndrome. Human ortholog(s) of this gene implicated in long QT syndrome; long QT syndrome 2; and short QT syndrome. Orthologous to human KCNH2 (potassium voltage-gated channel subfamily H member 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in ovary adult (RPKM 33.4), thymus adult (RPKM 29.0) and 22 other tissues See more
Orthologs
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Genomic context

Location:
5 A3; 5 10.94 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (24524583..24556671, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (24319589..24351684, complement)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_12636 Neighboring gene small ubiquitin-related modifier 2 pseudogene Neighboring gene predicted gene, 33476 Neighboring gene predicted gene 15589 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:23853089-23853272 Neighboring gene STARR-positive B cell enhancer ABC_E10309 Neighboring gene nitric oxide synthase 3, endothelial cell Neighboring gene STARR-positive B cell enhancer ABC_E4747 Neighboring gene STARR-positive B cell enhancer ABC_E1677 Neighboring gene autophagy related 9B Neighboring gene ATP-binding cassette, sub-family B member 8 Neighboring gene cyclin dependent kinase 5

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (4)  1 citation

Pathways from PubChem

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables C3HC4-type RING finger domain binding ISO
Inferred from Sequence Orthology
more info
 
enables delayed rectifier potassium channel activity ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables inward rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables inward rectifier potassium channel activity ISO
Inferred from Sequence Orthology
more info
 
enables monoatomic ion channel activity ISO
Inferred from Sequence Orthology
more info
 
enables potassium channel activity ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables scaffold protein binding ISO
Inferred from Sequence Orthology
more info
 
enables transcription cis-regulatory region binding ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables voltage-gated potassium channel activity ISO
Inferred from Sequence Orthology
more info
 
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in cardiac muscle contraction ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to xenobiotic stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane depolarization during action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane repolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane repolarization during action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane repolarization during cardiac muscle cell action potential IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in membrane repolarization during cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in membrane repolarization during ventricular cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of potassium ion export across plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of potassium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of potassium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in potassium ion export across plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in potassium ion homeostasis ISO
Inferred from Sequence Orthology
more info
 
involved_in potassium ion import across plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in potassium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in potassium ion transport ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of heart rate by cardiac conduction IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within regulation of heart rate by cardiac conduction IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of heart rate by cardiac conduction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of membrane potential IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of membrane potential ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of membrane repolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of potassium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of ventricular cardiac muscle cell membrane repolarization IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of ventricular cardiac muscle cell membrane repolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
part_of inward rectifier potassium channel complex ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
part_of voltage-gated potassium channel complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
potassium voltage-gated channel subfamily H member 2
Names
eag-related protein 1
ether-a-go-go-related gene potassium channel 1
ether-a-go-go-related protein 1
voltage-gated potassium channel subunit Kv11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001294162.1NP_001281091.1  potassium voltage-gated channel subfamily H member 2 isoform 2

    See identical proteins and their annotated locations for NP_001281091.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons in the 5' coding region and contains an alternate 5' terminal exon, compared to variant 1. It encodes isoform 2 (also known as Merg1b), which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AA145089, AC113055, AI326795, BM936394, BQ745654, BU707188, CK619061, CX565252
    Consensus CDS
    CCDS80224.1
    UniProtKB/TrEMBL
    A0A0R4J1K0
    Related
    ENSMUSP00000110750.3, ENSMUST00000115098.7
    Conserved Domains (5) summary
    COG0664
    Location:396516
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:402513
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:109328
    Ion_trans; Ion transport protein
    pfam07885
    Location:271325
    Ion_trans_2; Ion channel
    pfam15836
    Location:673774
    SSTK-IP; SSTK-interacting protein, TSSK6-activating co-chaperone protein
  2. NM_013569.2NP_038597.2  potassium voltage-gated channel subfamily H member 2 isoform 1

    See identical proteins and their annotated locations for NP_038597.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as Merg1a).
    Source sequence(s)
    AC113055
    Consensus CDS
    CCDS19116.1
    UniProtKB/Swiss-Prot
    O35219, O35220, O35221, O35989
    UniProtKB/TrEMBL
    Q53Z09
    Related
    ENSMUSP00000047705.8, ENSMUST00000036092.10
    Conserved Domains (7) summary
    COG0664
    Location:738858
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:744855
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    cd00130
    Location:41132
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00520
    Location:451670
    Ion_trans; Ion transport protein
    pfam07885
    Location:613667
    Ion_trans_2; Ion channel
    pfam13426
    Location:29130
    PAS_9; PAS domain
    pfam15836
    Location:10151116
    SSTK-IP; SSTK-interacting protein, TSSK6-activating co-chaperone protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    24524583..24556671 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006535634.5XP_006535697.1  potassium voltage-gated channel subfamily H member 2 isoform X3

    See identical proteins and their annotated locations for XP_006535697.1

    UniProtKB/Swiss-Prot
    O35219, O35220, O35221, O35989
    Conserved Domains (5) summary
    PRK13559
    Location:7269
    PRK13559; hypothetical protein; Provisional
    cd00038
    Location:685796
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:352611
    Ion_trans; Ion transport protein
    pfam15836
    Location:9561057
    SSTK-IP; SSTK-interacting protein, TSSK6-activating co-chaperone protein
    pfam13426
    Location:171
    PAS_9; PAS domain
  2. XM_006535635.5XP_006535698.1  potassium voltage-gated channel subfamily H member 2 isoform X3

    See identical proteins and their annotated locations for XP_006535698.1

    UniProtKB/Swiss-Prot
    O35219, O35220, O35221, O35989
    Conserved Domains (5) summary
    PRK13559
    Location:7269
    PRK13559; hypothetical protein; Provisional
    cd00038
    Location:685796
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:352611
    Ion_trans; Ion transport protein
    pfam15836
    Location:9561057
    SSTK-IP; SSTK-interacting protein, TSSK6-activating co-chaperone protein
    pfam13426
    Location:171
    PAS_9; PAS domain
  3. XM_006535632.5XP_006535695.1  potassium voltage-gated channel subfamily H member 2 isoform X1

    UniProtKB/Swiss-Prot
    O35219, O35220, O35221, O35989
    Conserved Domains (3) summary
    cd00038
    Location:691802
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:358617
    Ion_trans; Ion transport protein
    pfam15836
    Location:9621063
    SSTK-IP; SSTK-interacting protein, TSSK6-activating co-chaperone protein
  4. XM_006535633.4XP_006535696.1  potassium voltage-gated channel subfamily H member 2 isoform X2

    UniProtKB/Swiss-Prot
    O35219, O35220, O35221, O35989
    Conserved Domains (4) summary
    cd00038
    Location:687798
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
    pfam00520
    Location:354613
    Ion_trans; Ion transport protein
    pfam15836
    Location:9581059
    SSTK-IP; SSTK-interacting protein, TSSK6-activating co-chaperone protein
    pfam13426
    Location:29130
    PAS_9; PAS domain

RNA

  1. XR_389740.5 RNA Sequence