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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
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:99224861-99242817 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      17957 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
    UniProt: Q9ULD8

  • Chr Location
    12q13.12; chr12:49538541-49558312 (+)  GRCh38.p7

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
    29 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037579 Ensembl Gene Model | MGI Sequence Detail 17957 C57BL/6J ±  kb
    transcript ENSMUST00000041415 Ensembl | MGI Sequence Detail 3698 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
    less
    • All nucleic 12
      Genomic 2
      cDNA 10

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1924786, MGI:2146131
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 3
      Phenotypes 29
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:246066 Sundberg JP, et al., Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PLoS One. 2017;12(7):e0180682

    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
    10/09/2018
    MGI 6.12
    The Jackson Laboratory