Kcnv2 potassium channel, subfamily V, member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcnv2provided by MGI
Official Full Name: potassium channel, subfamily V, member 2provided by MGI
Primary source: MGI:MGI:2670981
See related: Ensembl:ENSMUSG00000047298 AllianceGenome:MGI:2670981
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: KV11.1
Summary: Predicted to enable potassium channel regulator activity. Predicted to be involved in action potential and potassium ion transmembrane transport. Predicted to be part of voltage-gated potassium channel complex. Predicted to be active in membrane. Is expressed in several structures, including central nervous system; heart; and retina. Human ortholog(s) of this gene implicated in retinal cone dystrophy 3B. Orthologous to human KCNV2 (potassium voltage-gated channel modifier subfamily V member 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart adult (RPKM 1.7), testis adult (RPKM 0.5) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C1; 19 21.88 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (27299461..27314579)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (27322061..27337179)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Kv8.2 knock-out (KO) mice show many similarities to human cone dystrophy with a supernormal rod response, including a depressed a-wave and an elevated b-wave response with bright light stimulation. Optical coherence tomography imaging and immunohistochemistry indicate that the changes in six-month-old Kv8.2 KO retinae are largely limited to the outer nuclear layer, while outer segments appear intact.
Title: The Role of the Voltage-Gated Potassium Channel Proteins Kv8.2 and Kv2.1 in Vision and Retinal Disease: Insights from the Study of Mouse Gene Knock-Out Mutations.
We conclude that nucleotide changes in evolutionary conserved crx binding site could impact retina-specific expression levels of Kcnv2.
Title: RETINA-specific expression of Kcnv2 is controlled by cone-rod homeobox (Crx) and neural retina leucine zipper (Nrl).
two pore mutations (W467G and G478R) led to the formation of nonconducting heteromeric Kv2.1/Kv8.2 channels
Title: Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.
Results demonstrate that altered potassium subunit function influences epilepsy susceptibility and implicate Kcnv2 as an epilepsy gene.
Title: Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.
Kcnv2 is a strong functional candidate for epilepsy modifier.
Title: Fine mapping of an epilepsy modifier gene on mouse Chromosome 19.
Data show that total Kv11.1 alpha subunit protein is more abundant in neonatal heart and is distributed throughout both adult and neonatal ventricles with greater abundance in epicardia.
Title: Kv11.1 channel subunit composition includes MinK and varies developmentally in mouse cardiac muscle.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily V member 2

Names: voltage-gated potassium channel subunit Kv8.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_183179.1 → NP_899002.1 potassium voltage-gated channel subfamily V member 2

See identical proteins and their annotated locations for NP_899002.1

Status: VALIDATED

Source sequence(s)

BC039042

Consensus CDS

CCDS29722.1

UniProtKB/Swiss-Prot

Q8CFS6

Related

ENSMUSP00000055091.4, ENSMUST00000056708.4

Conserved Domains (4) summary

smart00225
Location:107 → 198

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam00520
Location:305 → 521

Ion_trans; Ion transport protein

pfam07885
Location:434 → 509

Ion_trans_2; Ion channel

cl02518
Location:107 → 198

BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

27299461..27314579

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006527067.4 → XP_006527130.1 potassium voltage-gated channel subfamily V member 2 isoform X1

Conserved Domains (2) summary

cl38908
Location:107 → 214

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam00520
Location:276 → 361

Ion_trans; Ion transport protein