Kcnq5 MGI Mouse Gene Detail - MGI:1924937 - potassium voltage-gated channel, subfamily Q, member 5

Symbol

Kcnq5
Name

potassium voltage-gated channel, subfamily Q, member 5
Synonyms

9230107O05Rik, D1Mgi1

Feature Type

protein coding gene
IDs

MGI:1924937
NCBI Gene: 226922
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr1:21468627-22032166 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 6.67 cM, cytoband A5
Mapping Data

2 experiments

SNPs within 2kb

17909 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1924937	protein coding gene	Chr1:21468623-22032874 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0015881	protein coding gene	Chr1:19082445-19704017 (-)
A/J	MGP_AJ_G0015862	protein coding gene	Chr1:18831030-19406639 (-)
AKR/J	MGP_AKRJ_G0015819	protein coding gene	Chr1:18916858-19515798 (-)
BALB/cJ	MGP_BALBcJ_G0015818	protein coding gene	Chr1:18530698-19125558 (-)
C3H/HeJ	MGP_C3HHeJ_G0015652	protein coding gene	Chr1:18934375-19540607 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0016272	protein coding gene	Chr1:19990969-20618514 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0013991	protein coding gene	Chr1:16957340-17555517 (-)
CAST/EiJ	MGP_CASTEiJ_G0015231	protein coding gene	Chr1:19011677-19635178 (-)
CBA/J	MGP_CBAJ_G0015624	protein coding gene	Chr1:20445796-21125440 (-)
DBA/2J	MGP_DBA2J_G0015723	protein coding gene	Chr1:18340821-18917693 (-)
FVB/NJ	MGP_FVBNJ_G0015727	protein coding gene	Chr1:18110442-18682120 (-)
LP/J	MGP_LPJ_G0015795	protein coding gene	Chr1:19336422-19923091 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015747	protein coding gene	Chr1:21355170-22076964 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016319	protein coding gene	Chr1:18857414-19456693 (-)
PWK/PhJ	MGP_PWKPhJ_G0015014	protein coding gene	Chr1:18105492-18682821 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0014795	protein coding gene	Chr1:18946259-19551020 (-)
WSB/EiJ	MGP_WSBEiJ_G0015294	protein coding gene	Chr1:18816394-19428948 (-)

Human Ortholog

KCNQ5, potassium voltage-gated channel subfamily Q member 5

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KCNQ5, potassium voltage-gated channel subfamily Q member 5
Synonyms

Kv7.5, MRD46
Links

HGNC:6299

NCBI Gene ID: 56479

neXtProt AC: NX_Q9NR82

UniProt: Q9NR82
Chr Location

6q13; chr6:72621792-73198853 (+) GRCh38

MGI Vertebrate Homology

Kcnq5 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KCNQ5
Gene Tree

Kcnq5

Diseases

1 with human KCNQ5 associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 46 IDs autosomal dominant intellectual developmental disorder 46 DOID:0080237 OMIM:617601

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
11 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

6
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

3
Genomic Mutations

1 involving Kcnq5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

61 strains or lines available

Mice homozygous for a dominant negative knock-in mutation in this gene exhibit partial prenatal lethality and abnormal afterhyperpolarization in the in the CA3 area of hippocampus.

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All GO Annotations

19
GO References

6

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

709
Tissues

3
cDNA Data

8
Literature Summary

2

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kcnq5

ZFIN kcnq5a, kcnq5b

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All Sequences

62
RefSeq

8
UniProt

7
CCDS

CCDS35525.1, CCDS48230.1, CCDS78554.1

Ensembl

ENSMUSG00000028033 (Evidence)
NCBI Gene

226922

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028033	Ensembl Gene Model \| MGI Sequence Detail	563540	C57BL/6J	± kb
transcript	ENSMUST00000115300	Ensembl \| MGI Sequence Detail	6975	Not Applicable
polypeptide	ENSMUSP00000110955	Ensembl \| MGI Sequence Detail	952	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000000732 voltage-gated potassium channel subunit KCNQ5

(term hierarchy)
InterPro Domains

IPR005821 Ion transport domain

IPR003937 Potassium channel, voltage dependent, KCNQ

IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminal

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All nucleic 9

cDNA 8

Primer pair 1

Microarray probesets 4

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MGI:2138116

Summaries

All 44

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 11
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

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

TSS for Kcnq5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr11098	Chr1:22032558-22032616 (-)	-421 bp
Tssr11097	Chr1:22031702-22031733 (-)	448 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 11/19/2024 MGI 6.24