KCNC2 potassium voltage-gated channel subfamily C member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNC2provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily C member 2provided by HGNC
Primary source: HGNC:HGNC:6234
See related: Ensembl:ENSG00000166006 MIM:176256; AllianceGenome:HGNC:6234
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KV3.2; DEE103
Summary: The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Expression: Restricted expression toward brain (RPKM 14.9) See more
Orthologs: mouse all
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Genomic context

Location:: 12q21.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (75040078..75209839, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (75014738..75184480, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (75433858..75603619, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Investigation of novel de novo KCNC2 variants causing severe developmental and early-onset epileptic encephalopathy.
Title: Investigation of novel de novo KCNC2 variants causing severe developmental and early-onset epileptic encephalopathy.
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Title: Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.
Title: A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.
Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder.
Title: Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder.
these data suggest that reduction of KCNC2 is associated with modified hepatic gluconeogenesis and increased ER stress on obesity-mediated diabetic risk.
Title: An integrative study identifies KCNC2 as a novel predisposing factor for childhood obesity and the risk of diabetes in the Korean population.
Kv3.2 is not different in distribution or in level between normal and schizophrenia cases, nor influenced by antipsychotic drugs, in any brain region tested
Title: Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs.
This family's complex phenotype is associated with a new chromosomal deletion, which suggests potential roles for the two genes, KCNC2 and ATXN7L3B, in human neurological disease.
Title: Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
Although all KV3 subunit transcripts are significantly expressed at embryonic age in whole brain extracts, only KV3.1, KV3.2 and KV3.4 subunit transgenic proteins are present.
Title: Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease.
In the absence of potassium ion, significant N-methyl-D-glucamine (NMDG)-positive currents could be recorded from human embryonic kidney cells expressing Kv3.1 or Kv3.2b channels and Kv1.5 Arg487Tyr/Val, but not wild-type channels.
Title: Control of voltage-gated K+ channel permeability to NMDG+ by a residue at the outer pore.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy 103 MedGen: C5677002 OMIM: 619913 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC30445 (e-PCR)
- UniSTS:59513

HSC2JH102 (e-PCR)
- UniSTS:64890

A004A47 (e-PCR)
- UniSTS:7606

D12S1231E (e-PCR)
- UniSTS:151478

KCNC2_2525 (e-PCR)
- UniSTS:280797

SHGC-82234 (e-PCR)
- UniSTS:104185

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables delayed rectifier potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
enables voltage-gated potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in action potential	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ammonium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nitric oxide	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in globus pallidus development	IEA Inferred from Electronic Annotation more info
involved_in nitric oxide-cGMP-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in optic nerve development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein heterooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in response to amine	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to light intensity	IEA Inferred from Electronic Annotation more info
involved_in response to magnesium ion	IEA Inferred from Electronic Annotation more info
involved_in response to nerve growth factor	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in axolemma	IEA Inferred from Electronic Annotation more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
is_active_in axon terminus	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in neuronal cell body membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in presynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in terminal bouton	IEA Inferred from Electronic Annotation more info
located_in vesicle	IEA Inferred from Electronic Annotation 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	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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

Names: potassium channel, voltage gated Shaw related subfamily C, member 2; potassium voltage-gated channel, Shaw-related subfamily, member 2; shaw-like potassium channel; voltage-gated potassium channel Kv3.2

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_001260497.2 → NP_001247426.1 potassium voltage-gated channel subfamily C member 2 isoform 4

See identical proteins and their annotated locations for NP_001247426.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform KV3.2b.

Source sequence(s)

AC073525, AC091534, AF268897, AK309245, DA218546, DC323864

Consensus CDS

CCDS58257.1

UniProtKB/Swiss-Prot

Q96PR1

Related

ENSP00000376966.2, ENST00000393288.2

Conserved Domains (2) summary

cd18415
Location:7 → 166

BTB_KCNC2_4; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC2 and KCNC4

pfam00520
Location:228 → 484

Ion_trans; Ion transport protein
NM_001260498.2 → NP_001247427.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2d

See identical proteins and their annotated locations for NP_001247427.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (KV3.2d) has a shorter and distinct C-terminus compared to isoform KV3.2b.

Source sequence(s)

AC073525, AC091534, AY243473, DA218546, DC323864

Consensus CDS

CCDS58256.1

Conserved Domains (2) summary

cd18415
Location:7 → 166

BTB_KCNC2_4; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC2 and KCNC4

pfam00520
Location:228 → 484

Ion_trans; Ion transport protein
NM_001260499.2 → NP_001247428.1 potassium voltage-gated channel subfamily C member 2 isoform 6

See identical proteins and their annotated locations for NP_001247428.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an alternate in-frame exon compared to variant 2. The resulting isoform (6) has the same N- and C-termini but is shorter compared to isoform KV3.2b.

Source sequence(s)

AC073525, AC091534, AK094720, AK294269, DA218546, DC323864

Consensus CDS

CCDS58255.1

UniProtKB/Swiss-Prot

Q96PR1

Related

ENSP00000438423.1, ENST00000540018.5

Conserved Domains (2) summary

cd18415
Location:7 → 166

BTB_KCNC2_4; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC2 and KCNC4

pfam00520
Location:228 → 484

Ion_trans; Ion transport protein
NM_001414192.1 → NP_001401121.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2b

Status: REVIEWED

Source sequence(s)

AC073525, AC091534

UniProtKB/Swiss-Prot

B7Z231, F5H030, J3KPP5, Q4LE77, Q86W09, Q8N1V9, Q96PR0, Q96PR1
NM_001414193.1 → NP_001401122.1 potassium voltage-gated channel subfamily C member 2 isoform 7

Status: REVIEWED

Source sequence(s)

AC073525, AC091534
NM_001414194.1 → NP_001401123.1 potassium voltage-gated channel subfamily C member 2 isoform 8

Status: REVIEWED

Source sequence(s)

AC073525, AC091534
NM_001414195.1 → NP_001401124.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2a

Status: REVIEWED

Source sequence(s)

AC073525, AC091534
NM_001414196.1 → NP_001401125.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2a

Status: REVIEWED

Source sequence(s)

AC073525, AC091534

Related

ENSP00000449941.1, ENST00000548513.5
NM_001414197.1 → NP_001401126.1 potassium voltage-gated channel subfamily C member 2 isoform 9

Status: REVIEWED

Source sequence(s)

AC073525, AC091534
NM_001414198.1 → NP_001401127.1 potassium voltage-gated channel subfamily C member 2 isoform 10

Status: REVIEWED

Source sequence(s)

AC073525, AC091534
NM_001414199.1 → NP_001401128.1 potassium voltage-gated channel subfamily C member 2 isoform 11

Status: REVIEWED

Source sequence(s)

AC073525, AC091534
NM_001414202.1 → NP_001401131.1 potassium voltage-gated channel subfamily C member 2 isoform 9

Status: REVIEWED

Source sequence(s)

AC073525, AC091534

UniProtKB/TrEMBL

A0A3B3ISR9

Related

ENSP00000497415.1, ENST00000647764.1
NM_001414206.1 → NP_001401135.1 potassium voltage-gated channel subfamily C member 2 isoform 9

Status: REVIEWED

Source sequence(s)

AC073525, AC091534

UniProtKB/TrEMBL

A0A3B3ISR9
NM_001414213.1 → NP_001401142.1 potassium voltage-gated channel subfamily C member 2 isoform 9

Status: REVIEWED

Source sequence(s)

AC073525, AC091534

UniProtKB/TrEMBL

A0A3B3ISR9
NM_139136.4 → NP_631874.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2a

See identical proteins and their annotated locations for NP_631874.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (KV3.2a) has a shorter and distinct C-terminus compared to isoform KV3.2b. Variants 1, 10, and 11 all encode the same isoform (KV3.2a).

Source sequence(s)

AC091534, AF268897, AK094720, DA218546, DC323864

Consensus CDS

CCDS9005.1

Related

ENSP00000298972.1, ENST00000298972.5

Conserved Domains (2) summary

cd18415
Location:7 → 166

BTB_KCNC2_4; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC2 and KCNC4

pfam00520
Location:228 → 484

Ion_trans; Ion transport protein
NM_139137.4 → NP_631875.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2b

See identical proteins and their annotated locations for NP_631875.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes the longest isoform (KV3.2b). Variants 2 and 7 both encode the same isoform (KV3.2b).

Source sequence(s)

AC073525, AC091534, AY118169, DA218546, DC323864

Consensus CDS

CCDS9007.1

UniProtKB/Swiss-Prot

B7Z231, F5H030, J3KPP5, Q4LE77, Q86W09, Q8N1V9, Q96PR0, Q96PR1

Related

ENSP00000449253.2, ENST00000549446.6

Conserved Domains (2) summary

cd18415
Location:7 → 166

BTB_KCNC2_4; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC2 and KCNC4

pfam00520
Location:228 → 484

Ion_trans; Ion transport protein
NM_153748.3 → NP_715624.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2c

See identical proteins and their annotated locations for NP_715624.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon and differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (KV3.2c) lacks an alternate internal segment and differs in the 3' UTR and coding sequence compared to isoform KV3.2b.

Source sequence(s)

AC091534, AK094720, DA218546, DC323864

Consensus CDS

CCDS9006.1

UniProtKB/Swiss-Prot

Q96PR1

Related

ENSP00000319877.2, ENST00000350228.6

Conserved Domains (2) summary

cd18415
Location:7 → 166

BTB_KCNC2_4; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC2 and KCNC4

pfam00520
Location:228 → 484

Ion_trans; Ion transport protein

RNA

NR_182257.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC073525, AC091534
NR_182259.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC073525, AC091534

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

75040078..75209839 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428818.1 → XP_047284774.1 potassium voltage-gated channel subfamily C member 2 isoform X6
XM_047428817.1 → XP_047284773.1 potassium voltage-gated channel subfamily C member 2 isoform X5
XM_047428810.1 → XP_047284766.1 potassium voltage-gated channel subfamily C member 2 isoform X1

Related

ENSP00000448301.1, ENST00000550433.5
XM_047428812.1 → XP_047284768.1 potassium voltage-gated channel subfamily C member 2 isoform X3
XM_047428811.1 → XP_047284767.1 potassium voltage-gated channel subfamily C member 2 isoform X2
XM_047428816.1 → XP_047284772.1 potassium voltage-gated channel subfamily C member 2 isoform X4

UniProtKB/TrEMBL

A0A3B3ISR9
XM_006719383.5 → XP_006719446.1 potassium voltage-gated channel subfamily C member 2 isoform X4

See identical proteins and their annotated locations for XP_006719446.1

UniProtKB/TrEMBL

A0A3B3ISR9

Conserved Domains (2) summary

cd18415
Location:7 → 166

BTB_KCNC2_4; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC2 and KCNC4

pfam00520
Location:228 → 484

Ion_trans; Ion transport protein
XM_047428813.1 → XP_047284769.1 potassium voltage-gated channel subfamily C member 2 isoform X4

UniProtKB/TrEMBL

A0A3B3ISR9
XM_006719390.5 → XP_006719453.1 potassium voltage-gated channel subfamily C member 2 isoform X7

Conserved Domains (2) summary

smart00225
Location:10 → 159

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam02214
Location:10 → 151

BTB_2; BTB/POZ domain

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

75014738..75184480 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372004.1 → XP_054227979.1 potassium voltage-gated channel subfamily C member 2 isoform X6
XM_054372001.1 → XP_054227976.1 potassium voltage-gated channel subfamily C member 2 isoform X3
XM_054372003.1 → XP_054227978.1 potassium voltage-gated channel subfamily C member 2 isoform X4

UniProtKB/TrEMBL

A0A3B3ISR9
XM_054372002.1 → XP_054227977.1 potassium voltage-gated channel subfamily C member 2 isoform X4

UniProtKB/TrEMBL

A0A3B3ISR9
XM_054372005.1 → XP_054227980.1 potassium voltage-gated channel subfamily C member 2 isoform X7