Kcnc2 MGI Mouse Gene Detail - MGI:96668 - potassium voltage gated channel, Shaw-related subfamily, member 2

Symbol

Kcnc2
Name

potassium voltage gated channel, Shaw-related subfamily, member 2
Synonyms

KShIIIA, Kv3.2

Feature Type

protein coding gene
IDs

MGI:96668
NCBI Gene: 268345
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr10:112107026-112302929 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 60.30 cM
Mapping Data

11 experiments

SNPs within 2kb

1519 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96668	protein coding gene	Chr10:112105803-112302929 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017728	protein coding gene	Chr10:114801641-114994205 (+)
A/J	MGP_AJ_G0017705	protein coding gene	Chr10:110438420-110625210 (+)
AKR/J	MGP_AKRJ_G0017667	protein coding gene	Chr10:113679970-113869667 (+)
BALB/cJ	MGP_BALBcJ_G0017668	protein coding gene	Chr10:110792386-110979153 (+)
C3H/HeJ	MGP_C3HHeJ_G0017493	protein coding gene	Chr10:113818327-114009244 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018125	protein coding gene	Chr10:118784909-118970124 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015805	protein coding gene	Chr10:105192613-105373239 (+)
CAST/EiJ	MGP_CASTEiJ_G0017055	protein coding gene	Chr10:114016716-114193644 (+)
CBA/J	MGP_CBAJ_G0017462	protein coding gene	Chr10:123484347-123673779 (+)
DBA/2J	MGP_DBA2J_G0017567	protein coding gene	Chr10:109593756-109772090 (+)
FVB/NJ	MGP_FVBNJ_G0017562	protein coding gene	Chr10:108547340-108731208 (+)
LP/J	MGP_LPJ_G0017642	protein coding gene	Chr10:115441900-115636912 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017591	protein coding gene	Chr10:125997227-126202822 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018163	protein coding gene	Chr10:113660930-113845260 (+)
PWK/PhJ	MGP_PWKPhJ_G0016837	protein coding gene	Chr10:109629114-109816021 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016627	protein coding gene	Chr10:112430945-112616044 (+)
WSB/EiJ	MGP_WSBEiJ_G0017115	protein coding gene	Chr10:113842741-114046203 (+)

Human Ortholog

KCNC2, potassium voltage-gated channel subfamily C member 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KCNC2, potassium voltage-gated channel subfamily C member 2
Synonyms

DEE103, KV3.2
Links

HGNC:6234

NCBI Gene ID: 3747

neXtProt AC: NX_Q96PR1

UniProt: Q96PR1
Chr Location

12q21.1; chr12:75040077-75209839 (-) GRCh38

MGI Vertebrate Homology

Kcnc2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KCNC2
Gene Tree

Kcnc2

Diseases

1 with human KCNC2 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 103 IDs developmental and epileptic encephalopathy 103 DOID:0070389 OMIM:619913

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

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
19 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

7
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

4
Genomic Mutations

1 involving Kcnc2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

30 strains or lines available
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a knock-out allele display impaired fast spiking in cortical interneurons, distorted cortical rhythmic activity, enhanced susceptibility to seizures, increased anxiety in the open field, and abnormal sleep patterns.

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All GO Annotations

69
GO References

8

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

812
Tissues

36
cDNA Data

12
Literature Summary

9

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kcnc2

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All Sequences

83
RefSeq

36
UniProt

6
CCDS

CCDS24173.1, CCDS88085.1

Ensembl

ENSMUSG00000035681 (Evidence)
NCBI Gene

268345

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035681	Ensembl Gene Model \| MGI Sequence Detail	195904	C57BL/6J	± kb
transcript	ENSMUST00000092175	Ensembl \| MGI Sequence Detail	5046	Not Applicable
polypeptide	ENSMUSP00000089814	Ensembl \| MGI Sequence Detail	642	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000000782 voltage-gated potassium channel KCNC2

(term hierarchy)
InterPro Domains

IPR000210 BTB/POZ domain

IPR005821 Ion transport domain

IPR003131 Potassium channel tetramerisation-type BTB domain

IPR003968 Potassium channel, voltage dependent, Kv

IPR003974 Potassium channel, voltage dependent, Kv3

IPR011333 SKP1/BTB/POZ domain superfamily

IPR027359 Voltage-dependent channel domain superfamily

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All nucleic 16

cDNA 13

Primer pair 2

Other 1

Microarray probesets 2

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MGD-MRK-11572, MGI:2143797

Summaries

All 63

Developmental Gene Expression 9

Gene Ontology 8

Phenotypes 19
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:343283 Russell NX, et al., Wnt signaling regulates ion channel expression to promote smooth muscle and cartilage formation in developing mouse trachea. Am J Physiol Lung Cell Mol Physiol. 2023 Dec 1;325(6):L788-L802

TSS for Kcnc2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr95790	Chr10:112105683-112105693 (+)	-1,338 bp
Tssr95791	Chr10:112105840-112105860 (+)	-1,176 bp
Tssr95792	Chr10:112105914-112105934 (+)	-1,102 bp
Tssr95793	Chr10:112105939-112105972 (+)	-1,070 bp
Tssr95794	Chr10:112105998-112106050 (+)	-1,002 bp
Tssr95795	Chr10:112106161-112106172 (+)	-859 bp
Tssr95796	Chr10:112106202-112106238 (+)	-806 bp
Tssr3353	Chr10:112107495-112107506 (+)	475 bp
Tssr95797	Chr10:112107563-112107594 (+)	553 bp
Tssr3354	Chr10:112235659-112235666 (+)	128,637 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 04/16/2024 MGI 6.23