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Kcnh3 Gene Detail
Summary
  • Symbol
    Kcnh3
  • Name
    potassium voltage-gated channel, subfamily H (eag-related), member 3
  • Synonyms
    C030044P22Rik, Elk2, ether a go-go like, Melk2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341723
    NCBI Gene: 16512
  • Gene Overview
    MyGene.info: KCNH3
Location & Maps
more
  • Sequence Map
    Chr15:99224976-99242817 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17842 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 56.08 cM, cytoband F3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    KCNH3, potassium voltage-gated channel subfamily H member 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    KCNH3, potassium voltage-gated channel subfamily H member 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BEC1, ELK2, Kv12.2
  • Links
    NCBI Gene ID: 23416
    neXtProt AC: NX_Q9ULD8

  • Chr Location
    12q13.12; chr12:49539041-49558308 (+)  GRCh38.p2

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 4 alleles in 3 genetic backgrounds
    4 phenotypes from multigenic genotypes
    27 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.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    2
  • Targeted
    7
  • Transgenic
    1
  • Genomic Mutations
    3 involving Kcnh3
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000037579 Ensembl Gene Model | MGI Sequence Detail 17842 C57BL/6J ±  kb
transcript ENSMUST00000041415 Ensembl | MGI Sequence Detail 3583 Not Applicable  
polypeptide ENSMUSP00000040548 Ensembl | MGI Sequence Detail 1095 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    163 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 11
    Genomic 1
    cDNA 10

    Microarray probesets 4
Other
Accession IDs
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MGI:1924786, MGI:2146131
References
more
  • Summaries
    All 34
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 3
    Phenotypes 27
  • Earliest
    J:54018 Trudeau MC, et al., Functional analysis of a mouse brain Elk-type K+ channel. J Neurosci. 1999 Apr 15;19(8):2906-18
  • Latest
    J:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory