Kcnh8 MGI Mouse Gene Detail - MGI:2445160 - potassium voltage-gated channel, subfamily H (eag-related), member 8

Symbol

Kcnh8
Name

potassium voltage-gated channel, subfamily H (eag-related), member 8
Synonyms

C130090D05Rik, ELK1, Kv12.1

Feature Type

protein coding gene
IDs

MGI:2445160
NCBI Gene: 211468
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr17:52909737-53286222 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 27.37 cM
Mapping Data

1 experiment

SNPs within 2kb

12388 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2445160	protein coding gene	Chr17:52909535-53286892 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023885	protein coding gene	Chr17:54129186-54517325 (+)
A/J	MGP_AJ_G0023845	protein coding gene	Chr17:52617237-52998316 (+)
AKR/J	MGP_AKRJ_G0023813	protein coding gene	Chr17:53235005-53627918 (+)
BALB/cJ	MGP_BALBcJ_G0023847	protein coding gene	Chr17:52510376-52890083 (+)
C3H/HeJ	MGP_C3HHeJ_G0023610	protein coding gene	Chr17:53937561-54333362 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024291	protein coding gene	Chr17:56224312-56617765 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021739	protein coding gene	Chr17:49285931-49638699 (+)
CAST/EiJ	MGP_CASTEiJ_G0023092	protein coding gene	Chr17:54264526-54668788 (+)
CBA/J	MGP_CBAJ_G0023586	protein coding gene	Chr17:58336959-58767882 (+)
DBA/2J	MGP_DBA2J_G0023715	protein coding gene	Chr17:51388443-51768301 (+)
FVB/NJ	MGP_FVBNJ_G0023681	protein coding gene	Chr17:51038271-51406323 (+)
LP/J	MGP_LPJ_G0023795	protein coding gene	Chr17:54832420-55219135 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023709	protein coding gene	Chr17:57739051-58164073 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024336	protein coding gene	Chr17:53565357-53950586 (+)
PWK/PhJ	MGP_PWKPhJ_G0022837	protein coding gene	Chr17:50850489-51235751 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022651	protein coding gene	Chr17:50426802-50889943 (+)
WSB/EiJ	MGP_WSBEiJ_G0023156	protein coding gene	Chr17:54181527-54570692 (+)

Human Ortholog

KCNH8, potassium voltage-gated channel subfamily H member 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KCNH8, potassium voltage-gated channel subfamily H member 8
Synonyms

ELK, ELK1, elk3, hElk-1, Kv12.1
Links

HGNC:18864

NCBI Gene ID: 131096

neXtProt AC: NX_Q96L42

UniProt: Q96L42
Chr Location

3p24.3; chr3:19148510-19535642 (+) GRCh38

MGI Vertebrate Homology

Kcnh8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KCNH8
Gene Tree

Kcnh8

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Phenotype Summary

11 phenotypes from 2 alleles in 2 genetic backgrounds
2 phenotypes from multigenic genotypes
5 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

3
Endonuclease-mediated

1
Gene trapped

1
Targeted

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

91 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele display loss of circadian patterns of neuron firing rates but no disruption of circadian rhythms of locomotor activity.

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All GO Annotations

14
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	non-membrane-bounded 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

709
Tissues

3
cDNA Data

4
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN kcnh8

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All Sequences

41
RefSeq

6
UniProt

4
CCDS

CCDS57101.1

Ensembl

ENSMUSG00000035580 (Evidence)
NCBI Gene

211468

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035580	Ensembl Gene Model \| MGI Sequence Detail	376486	C57BL/6J	± kb
transcript	ENSMUST00000039366	Ensembl \| MGI Sequence Detail	4287	Not Applicable
polypeptide	ENSMUSP00000049206	Ensembl \| MGI Sequence Detail	1102	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000000797 voltage-gated potassium channel KCNH8

(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

P59111 2 sites

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All nucleic 5

cDNA 4

Primer pair 1

Microarray probesets 4

Summaries

All 27

Developmental Gene Expression 2

Gene Ontology 5

Phenotypes 5
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

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

TSS for Kcnh8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr145202	Chr17:52909270-52909312 (+)	-446 bp
Tssr145203	Chr17:52909313-52909323 (+)	-419 bp
Tssr145204	Chr17:52909425-52909465 (+)	-292 bp
Tssr145205	Chr17:52909728-52909745 (+)	0 bp
Tssr5165	Chr17:52909750-52909788 (+)	32 bp
Tssr145206	Chr17:52932064-52932068 (+)	22,329 bp
Tssr5166	Chr17:53026892-53026896 (+)	117,157 bp
Tssr145207	Chr17:53064119-53064121 (+)	154,383 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 10/29/2024 MGI 6.24