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Kcnh2 Gene Detail
Summary
  • Symbol
    Kcnh2
  • Name
    potassium voltage-gated channel, subfamily H (eag-related), member 2
  • Synonyms
    ERG1, ether a go-go related, LQT, Lqt2, M-erg, merg1a, merg1b
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341722
    NCBI Gene: 16511
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:24524587-24556602 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 10.94 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    702 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341722
 protein coding gene Chr5:24524583-24556671 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029337
 protein coding gene Chr5:22040634-22074225 (-)
A/J MGP_AJ_G0029303
 protein coding gene Chr5:21289770-21321778 (-)
AKR/J MGP_AKRJ_G0029254
 protein coding gene Chr5:22152679-22184676 (-)
BALB/cJ MGP_BALBcJ_G0029314
 protein coding gene Chr5:21804982-21837414 (-)
C3H/HeJ MGP_C3HHeJ_G0029034
 protein coding gene Chr5:22262740-22297094 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029767
 protein coding gene Chr5:23521216-23556691 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027005
 protein coding gene Chr5:19234234-19266304 (-)
CAST/EiJ MGP_CASTEiJ_G0028446
 protein coding gene Chr5:21434806-21469071 (-)
CBA/J MGP_CBAJ_G0029001
 protein coding gene Chr5:23901052-23935762 (-)
DBA/2J MGP_DBA2J_G0029152
 protein coding gene Chr5:21585661-21617729 (-)
FVB/NJ MGP_FVBNJ_G0029110
 protein coding gene Chr5:20952180-20984890 (-)
LP/J MGP_LPJ_G0029236
 protein coding gene Chr5:22439009-22473141 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029139
 protein coding gene Chr5:25046153-25078545 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029801
 protein coding gene Chr5:21790479-21822485 (-)
PWK/PhJ MGP_PWKPhJ_G0028170
 protein coding gene Chr5:20662149-20694791 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028001
 protein coding gene Chr5:21143825-21175800 (-)
WSB/EiJ MGP_WSBEiJ_G0028526
 protein coding gene Chr5:21858759-21890769 (-)



Homology
more
  • Human Ortholog
    KCNH2, potassium voltage-gated channel subfamily H member 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNH2, potassium voltage-gated channel subfamily H member 2
  • Synonyms
    ERG-1, ERG1, H-ERG, HERG, HERG1, Kv11.1, LQT2, SQT1
  • Links
    NCBI Gene ID: 3757
    neXtProt AC: NX_Q12809
    UniProt: Q12809

  • Chr Location
    7q36.1; chr7:150944961-150978321 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Kcnh2 mouse models; 3 with human KCNH2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    17 phenotypes from multigenic genotypes
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutant mice which maintain expression of the A isoform and lack expression of the B isoform are predisposed to episodic sinus bradycardia. Mice with mutations causing defects in both isoforms are embryonic lethal with defects in cardiac development and function.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    61
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    878
  • Tissues
    95
  • cDNA Data
    33
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038319 Ensembl Gene Model | MGI Sequence Detail 32016 C57BL/6J ±  kb
    transcript ENSMUST00000036092 Ensembl | MGI Sequence Detail 4221 Not Applicable  
    polypeptide ENSMUSP00000047705 Ensembl | MGI Sequence Detail 1162 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 45
      Genomic 4
      cDNA 33
      Primer pair 6
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2140841, MGI:893581
    References
    more
    • Summaries
      All 73
      Developmental Gene Expression 19
      Diseases 2
      Gene Ontology 10
      Phenotypes 19
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:358013 Schwarz JR, et al., Purkinje cell hyperexcitability and depressive-like behavior in mice lacking erg3 (ether-a-go-go-related gene) K(+) channel subunits. Sci Adv. 2024 Oct 4;10(40):eadn6836
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory