Kcnh3 MGI Mouse Gene Detail - MGI:1341723 - potassium voltage-gated channel, subfamily H (eag-related), member 3

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
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr15:99122742-99140698 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 56.08 cM, cytoband F3
Mapping Data

3 experiments

SNPs within 2kb

482 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1341723	protein coding gene	Chr15:99122396-99140699 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022325	protein coding gene	Chr15:101039117-101062740 (+)
A/J	MGP_AJ_G0022283	protein coding gene	Chr15:97029821-97047394 (+)
AKR/J	MGP_AKRJ_G0022259	protein coding gene	Chr15:100023148-100040769 (+)
BALB/cJ	MGP_BALBcJ_G0022289	protein coding gene	Chr15:97219049-97236601 (+)
C3H/HeJ	MGP_C3HHeJ_G0022057	protein coding gene	Chr15:100074388-100102567 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022734	protein coding gene	Chr15:104811651-104842009 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020260	protein coding gene	Chr15:92927580-92945374 (+)
CAST/EiJ	MGP_CASTEiJ_G0021581	protein coding gene	Chr15:100933039-100952188 (+)
CBA/J	MGP_CBAJ_G0022026	protein coding gene	Chr15:108376768-108397964 (+)
DBA/2J	MGP_DBA2J_G0022153	protein coding gene	Chr15:96473443-96491870 (+)
FVB/NJ	MGP_FVBNJ_G0022133	protein coding gene	Chr15:95454715-95474822 (+)
LP/J	MGP_LPJ_G0022224	protein coding gene	Chr15:101185703-101204719 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022153	protein coding gene	Chr15:112320070-112339120 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022749	protein coding gene	Chr15:100112574-100135550 (+)
PWK/PhJ	MGP_PWKPhJ_G0021320	protein coding gene	Chr15:96604153-96622497 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021155	protein coding gene	Chr15:99969479-99988143 (+)
WSB/EiJ	MGP_WSBEiJ_G0021632	protein coding gene	Chr15:100643685-100669273 (+)

Human Ortholog

KCNH3, potassium voltage-gated channel subfamily H member 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KCNH3, potassium voltage-gated channel subfamily H member 3
Synonyms

BEC1, ELK2, Kv12.2
Links

HGNC:6252

NCBI Gene ID: 23416

neXtProt AC: NX_Q9ULD8

UniProt: Q9ULD8
Chr Location

12q13.12; chr12:49539030-49558337 (+) GRCh38

MGI Vertebrate Homology

Kcnh3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KCNH3
Gene Tree

Kcnh3

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References

1 with disease annotations

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Phenotype Summary

17 phenotypes from 4 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
33 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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
Endonuclease-mediated

1
Gene trapped

2
Radiation induced

2
Targeted

7
Genomic Mutations

3 involving Kcnh3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

10
GO References

5

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

742
Tissues

25
cDNA Data

9
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

47
RefSeq

14
UniProt

1
CCDS

CCDS27817.1

Ensembl

ENSMUSG00000037579 (Evidence)
NCBI Gene

16512

			Length	Strain/Species	Flank
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

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UniProt

1 Sequence
Protein Ontology

PR:000000792 voltage-gated potassium channel KCNH3

(term hierarchy)
InterPro Domains

IPR000595 Cyclic nucleotide-binding domain

IPR018490 Cyclic nucleotide-binding domain superfamily

IPR005821 Ion transport domain

IPR001610 PAC motif

IPR000700 PAS-associated, C-terminal

IPR000014 PAS domain

IPR035965 PAS domain superfamily

IPR003938 Potassium channel, voltage-dependent, EAG/ELK/ERG

IPR003950 Potassium channel, voltage-dependent, ELK

IPR014710 RmlC-like jelly roll fold

IPR050818 Voltage-gated potassium channel family H
GlyGen

Q9WVJ0 3 sites, 1 N-linked glycan (1 site)

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All nucleic 15

Genomic 2

cDNA 10

Primer pair 2

Other 1

Microarray probesets 4

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MGI:1924786, MGI:2146131

Summaries

All 61

Developmental Gene Expression 3

Diseases 1

Gene Ontology 5

Phenotypes 33
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Kcnh3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr133001	Chr15:99122426-99122454 (+)	-302 bp
Tssr133002	Chr15:99122460-99122499 (+)	-262 bp
Tssr133003	Chr15:99126413-99126422 (+)	3,676 bp
Tssr133004	Chr15:99131771-99131785 (+)	9,036 bp
Tssr133005	Chr15:99133146-99133150 (+)	10,406 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24