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Kcnh6 Gene Detail
Summary
  • Symbol
    Kcnh6
  • Name
    potassium voltage-gated channel, subfamily H (eag-related), member 6
  • Synonyms
    m-erg2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2684139
    NCBI Gene: 192775
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:105898950-105925375 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 68.87 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    558 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2684139
 protein coding gene Chr11:105898871-105926421 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019290
 protein coding gene Chr11:109277390-109299763 (+)
A/J MGP_AJ_G0019258
 protein coding gene Chr11:104629015-104651055 (+)
AKR/J MGP_AKRJ_G0019227
 protein coding gene Chr11:107756341-107779754 (+)
BALB/cJ MGP_BALBcJ_G0019232
 protein coding gene Chr11:105033530-105054969 (+)
C3H/HeJ MGP_C3HHeJ_G0019041
 protein coding gene Chr11:108047685-108069981 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019682
 protein coding gene Chr11:112633871-112659557 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017307
 protein coding gene Chr11:101920047-101941131 (+)
CAST/EiJ MGP_CASTEiJ_G0018594
 protein coding gene Chr11:109100392-109121442 (+)
CBA/J MGP_CBAJ_G0019010
 protein coding gene Chr11:117321623-117342698 (+)
DBA/2J MGP_DBA2J_G0019122
 protein coding gene Chr11:104104458-104125407 (+)
FVB/NJ MGP_FVBNJ_G0019113
 protein coding gene Chr11:103608868-103629977 (+)
LP/J MGP_LPJ_G0019192
 protein coding gene Chr11:109731338-109752641 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019143
 protein coding gene Chr11:116617559-116640528 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019719
 protein coding gene Chr11:108235672-108258130 (+)
PWK/PhJ MGP_PWKPhJ_G0018359
 protein coding gene Chr11:105197630-105218922 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018150
 protein coding gene Chr11:108010680-108031799 (+)
WSB/EiJ MGP_WSBEiJ_G0018645
 protein coding gene Chr11:108210250-108231358 (+)



Homology
more
  • Human Ortholog
    KCNH6, potassium voltage-gated channel subfamily H member 6
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNH6, potassium voltage-gated channel subfamily H member 6
  • Synonyms
    ERG-2, ERG2, hERG-2, HERG2, Kv11.2
  • Links
    NCBI Gene ID: 81033
    neXtProt AC: NX_Q9H252
    UniProt: Q9H252

  • Chr Location
    17q23.3; chr17:63523334-63548992 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Kcnh6 mouse models

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotypes from 3 alleles in 2 genetic backgrounds
    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.
Nullizygous mice show a phenotype changing from hyperinsulinemia to hypoinsulinemia and diabetes. Islets from young mice show high intracellular calcium levels and insulin hypersecretion, whereas adult islets show increased ER stress and apoptosis, loss of beta cell mass and insulin hyposecretion.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    2
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
    821
  • Tissues
    65
  • cDNA Data
    9
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000001901 Ensembl Gene Model | MGI Sequence Detail 26426 C57BL/6J ±  kb
    transcript ENSMUST00000001965 Ensembl | MGI Sequence Detail 3368 Not Applicable  
    polypeptide ENSMUSP00000001965 Ensembl | MGI Sequence Detail 950 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR000595 Cyclic nucleotide-binding domain
      IPR018490 Cyclic nucleotide-binding domain superfamily
      IPR005821 Ion transport domain
      IPR000014 PAS domain
      IPR035965 PAS domain superfamily
      IPR003938 Potassium channel, voltage-dependent, EAG/ELK/ERG
      IPR003967 Potassium channel, voltage-dependent, ERG
      IPR014710 RmlC-like jelly roll fold
      IPR050818 Voltage-gated potassium channel family H
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 9
      Primer pair 1

      Microarray probesets 1
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 2
      Phenotypes 19
    • Earliest
      J:86965 Polvani S, et al., Developmentally regulated expression of the mouse homologues of the potassium channel encoding genes m-erg1, m-erg2 and m-erg3. Gene Expr Patterns. 2003 Dec;3(6):767-76
    • Latest
      J:354324 Xiong FR, et al., KCNH6 is essential for insulin secretion by regulating intracellular ER Ca(2+) store. FASEB J. 2024 Feb 29;38(4):e23490
    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)
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    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