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KCNQ2 potassium voltage-gated channel subfamily Q member 2 [ Homo sapiens (human) ]

Gene ID: 3785, updated on 3-Nov-2024

Summary

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Official Symbol
KCNQ2provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily Q member 2provided by HGNC
Primary source
HGNC:HGNC:6296
See related
Ensembl:ENSG00000075043 MIM:602235; AllianceGenome:HGNC:6296
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
EBN; BFNC; DEE7; EBN1; ENB1; HNSPC; KV7.2; KCNA11
Summary
The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 15.5), adrenal (RPKM 2.3) and 1 other tissue See more
Orthologs
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Genomic context

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See KCNQ2 in Genome Data Viewer
Location:
20q13.33
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63400208..63472655, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65207872..65283534, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62031561..62104008, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic alpha 4 subunit Neighboring gene uncharacterized LOC100130587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61992809-61993442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62006107-62006606 Neighboring gene uncharacterized LOC124904953 Neighboring gene Sharpr-MPRA regulatory region 8221 Neighboring gene Sharpr-MPRA regulatory region 785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62013199-62013883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62025225-62025986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62036487-62037438 Neighboring gene Sharpr-MPRA regulatory region 327 Neighboring gene uncharacterized LOC105372724 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62048909-62049556 Neighboring gene uncharacterized LOC105372721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62085825-62086688 Neighboring gene KCNQ2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62086689-62087552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62087803-62088726 Neighboring gene MPRA-validated peak4316 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62100374-62101106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62101107-62101837 Neighboring gene MPRA-validated peak4318 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62109338-62110150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62110151-62110962 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62127057-62127852 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62129445-62130240 Neighboring gene uncharacterized LOC124904955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62130501-62131070 Neighboring gene eukaryotic translation elongation factor 1 alpha 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62133167-62133672 Neighboring gene uncharacterized LOC105372725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62133673-62134178

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Biervert C, et al. Hum Genet, 1999 Mar. PMID 10323247
  2. The variable phenotypes of KCNQ-related epilepsy. Allen NM, et al. Epilepsia, 2014 Sep. PMID 25052858
  3. Capturing distinct KCNQ2 channel resting states by metal ion bridges in the voltage-sensor domain. Gourgy-Hacohen O, et al. J Gen Physiol, 2014 Dec. PMID 25385787, Free PMC Article
  4. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. Heron SE, et al. J Med Genet, 2007 Dec. PMID 17675531, Free PMC Article
  5. Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. Soldovieri MV, et al. J Neurosci, 2007 May 2. PMID 17475800, Free PMC Article

See all (186) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Impacted spike frequency adaptation associated with reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy.
    Title: Impacted spike frequency adaptation associated with reduction of KCNQ2/3 exacerbates seizure activity in temporal lobe epilepsy.
  2. KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.
    Title: KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.
  3. Effect of a sensing charge mutation on the deactivation of KV7.2 channels.
    Title: Effect of a sensing charge mutation on the deactivation of KV7.2 channels.
  4. Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China.
    Title: Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China.
  5. Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.
    Title: Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.
  6. Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.
    Title: Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.
  7. Familial KCNQ2 mutation: a psychiatric perspective.
    Title: Familial KCNQ2 mutation: a psychiatric perspective.
  8. Prognostic Analysis of KCNQ2 Patients via Combining EEG Deep Features and Machine Learning Classifiers.
    Title: Prognostic Analysis of KCNQ2 Patients via Combining EEG Deep Features and Machine Learning Classifiers.
  9. Ligand activation mechanisms of human KCNQ2 channel.
    Title: Ligand activation mechanisms of human KCNQ2 channel.
  10. Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.
    Title: Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.
Submit: New GeneRIF Correction See all GeneRIFs (140)

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2013-07-18)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2013-07-18)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ankyrin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables calmodulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated monoatomic cation channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in action potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in axon initial segment ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in node of Ranvier ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in synapse 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 IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
potassium voltage-gated channel subfamily KQT member 2
Names
neuroblastoma-specific potassium channel subunit alpha KvLQT2
potassium channel, voltage gated KQT-like subfamily Q, member 2
voltage-gated potassium channel subunit Kv7.2

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.

Genomic

  1. NG_009004.2 RefSeqGene

    Range
    4986..77433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001382235.1 → NP_001369164.1  potassium voltage-gated channel subfamily KQT member 2 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL121827, AL121829, AL353658, KF456987
    UniProtKB/TrEMBL
    A0A9L9PXL0, A0AAQ5BGF6
    Related
    ENSP00000516702.1, ENST00000706989.1
    Conserved Domains (4) summary
    pfam00520
    Location:92 → 324
    Ion_trans; Ion transport protein
    pfam03520
    Location:448 → 669
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam11956
    Location:786 → 886
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:684 → 774
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

  2. NM_004518.6 → NP_004509.2  potassium voltage-gated channel subfamily KQT member 2 isoform c

    See identical proteins and their annotated locations for NP_004509.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 3' UTR and lacks two alternate in-frame exons compared to variant 1, resulting in a shorter isoform (c) compared to isoform a.
    Source sequence(s)
    AF033348, AF074247, AL121827, AL121829, D82346, DB636326, KF456987, Y15065
    Consensus CDS
    CCDS13518.1
    UniProtKB/TrEMBL
    A0AAQ5BGF6
    Related
    ENSP00000353668.3, ENST00000360480.7
    Conserved Domains (5) summary
    pfam00520
    Location:119 → 324
    Ion_trans; Ion transport protein
    pfam03520
    Location:444 → 629
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240 → 314
    Ion_trans_2; Ion channel
    pfam11956
    Location:753 → 840
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:638 → 728
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

  3. NM_172106.3 → NP_742104.1  potassium voltage-gated channel subfamily KQT member 2 isoform b

    See identical proteins and their annotated locations for NP_742104.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.
    Source sequence(s)
    AF074247, AL121827, AL121829, DB636326, KF456987, Y15065
    Consensus CDS
    CCDS13519.1
    UniProtKB/TrEMBL
    A0AAQ5BGF6
    Related
    ENSP00000486706.1, ENST00000626839.2
    Conserved Domains (5) summary
    pfam00520
    Location:119 → 324
    Ion_trans; Ion transport protein
    pfam03520
    Location:454 → 639
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240 → 314
    Ion_trans_2; Ion channel
    pfam11956
    Location:763 → 850
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:648 → 738
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

  4. NM_172107.4 → NP_742105.1  potassium voltage-gated channel subfamily KQT member 2 isoform a

    See identical proteins and their annotated locations for NP_742105.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF033348, AF074247, AL121827, AL121829, D82346, DB636326, KF456987, Y15065
    Consensus CDS
    CCDS13520.1
    UniProtKB/Swiss-Prot
    O43526, O43796, O75580, O95845, Q4VXP4, Q4VXR6, Q5VYT8, Q96J59, Q99454
    UniProtKB/TrEMBL
    A0AAQ5BGF6
    Related
    ENSP00000352035.2, ENST00000359125.7
    Conserved Domains (5) summary
    pfam00520
    Location:119 → 324
    Ion_trans; Ion transport protein
    pfam03520
    Location:472 → 657
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240 → 314
    Ion_trans_2; Ion channel
    pfam11956
    Location:781 → 868
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:666 → 756
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

  5. NM_172108.5 → NP_742106.1  potassium voltage-gated channel subfamily KQT member 2 isoform d

    See identical proteins and their annotated locations for NP_742106.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame coding segments compared to variant 1, resulting in a shorter isoform (d) compared to isoform a. The 3' UTR of this variant has not been fully characterized.
    Source sequence(s)
    AF033348, AF074247, AF110020, AL121827, AL121829, D82346, DB636326, KF456987, Y15065
    Consensus CDS
    CCDS46629.1
    UniProtKB/TrEMBL
    A0AAQ5BGF6
    Related
    ENSP00000339611.4, ENST00000344462.8
    Conserved Domains (5) summary
    pfam00520
    Location:119 → 324
    Ion_trans; Ion transport protein
    pfam03520
    Location:442 → 626
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240 → 314
    Ion_trans_2; Ion channel
    pfam11956
    Location:750 → 837
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:635 → 725
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

  6. NM_172109.3 → NP_742107.1  potassium voltage-gated channel subfamily KQT member 2 isoform e

    See identical proteins and their annotated locations for NP_742107.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the coding region compared to variant 1, resulting in a frameshift. It encodes isoform e, which has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL121829, AL353658, D82346, DB636326
    Consensus CDS
    CCDS13521.1
    UniProtKB/TrEMBL
    A0AAQ5BGI0, Q53Y30
    Related
    ENSP00000345523.5, ENST00000344425.8
    Conserved Domains (1) summary
    pfam00520
    Location:92 → 324
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    63400208..63472655 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440145.1 → XP_047296101.1  potassium voltage-gated channel subfamily KQT member 2 isoform X7

    UniProtKB/TrEMBL
    A0A0D9SGG3
    Related
    ENSP00000487469.2, ENST00000627221.3

  2. XM_047440144.1 → XP_047296100.1  potassium voltage-gated channel subfamily KQT member 2 isoform X3

  3. XM_011528811.3 → XP_011527113.1  potassium voltage-gated channel subfamily KQT member 2 isoform X2

    UniProtKB/TrEMBL
    A0AAQ5BGF6
    Related
    ENSP00000359244.2, ENST00000370224.5
    Conserved Domains (5) summary
    pfam00520
    Location:119 → 324
    Ion_trans; Ion transport protein
    pfam03520
    Location:444 → 665
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240 → 314
    Ion_trans_2; Ion channel
    pfam11956
    Location:789 → 876
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:674 → 764
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

  4. XM_017027844.3 → XP_016883333.1  potassium voltage-gated channel subfamily KQT member 2 isoform X6

    UniProtKB/TrEMBL
    A0AAQ5BGF6

  5. XM_017027841.3 → XP_016883330.1  potassium voltage-gated channel subfamily KQT member 2 isoform X1

    UniProtKB/TrEMBL
    A0AAQ5BGF6

  6. XM_017027842.3 → XP_016883331.1  potassium voltage-gated channel subfamily KQT member 2 isoform X4

    UniProtKB/TrEMBL
    A0AAQ5BGF6

  7. XM_017027843.2 → XP_016883332.1  potassium voltage-gated channel subfamily KQT member 2 isoform X5

    UniProtKB/TrEMBL
    A0A0G2JH35

  8. XM_017027845.2 → XP_016883334.1  potassium voltage-gated channel subfamily KQT member 2 isoform X8

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187625.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    183..33239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    65207872..65283534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323431.1 → XP_054179406.1  potassium voltage-gated channel subfamily KQT member 2 isoform X7

    UniProtKB/TrEMBL
    A0A0D9SGG3

  2. XM_054323427.1 → XP_054179402.1  potassium voltage-gated channel subfamily KQT member 2 isoform X3

  3. XM_054323426.1 → XP_054179401.1  potassium voltage-gated channel subfamily KQT member 2 isoform X2

  4. XM_054323430.1 → XP_054179405.1  potassium voltage-gated channel subfamily KQT member 2 isoform X6

  5. XM_054323425.1 → XP_054179400.1  potassium voltage-gated channel subfamily KQT member 2 isoform X1

  6. XM_054323428.1 → XP_054179403.1  potassium voltage-gated channel subfamily KQT member 2 isoform X4

  7. XM_054323429.1 → XP_054179404.1  potassium voltage-gated channel subfamily KQT member 2 isoform X5

  8. XM_054323432.1 → XP_054179407.1  potassium voltage-gated channel subfamily KQT member 2 isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43526.2 GenPept UniProtKB/Swiss-Prot:O43526

Gene LinkOut

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