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

Gene ID: 3785, updated on 16-Apr-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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Location:
20q13.33
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63400208..63472655, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65207872..65283534, complement)
105.20220307 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
  • 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. Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey. Cossu A, et al. Epilepsy Behav, 2023 May. PMID 36989566
  2. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants. Chokvithaya S, et al. Sci Rep, 2023 Feb 27. PMID 36849527, Free PMC Article
  3. A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant. Liu HF, et al. Mol Med Rep, 2022 Sep. PMID 35856407, Free PMC Article
  4. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism. Miceli F, et al. EBioMedicine, 2022 Jul. PMID 35780567, Free PMC Article
  5. Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels. Edmond MA, et al. Elife, 2022 Jun 1. PMID 35642783, Free PMC Article

See all (174) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.
    Title: Biallelic variants of KCNQ2 in early infantile developmental and epileptic encephalopathy.
  2. 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.
  3. Familial KCNQ2 mutation: a psychiatric perspective.
    Title: Familial KCNQ2 mutation: a psychiatric perspective.
  4. 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.
  5. Ligand activation mechanisms of human KCNQ2 channel.
    Title: Ligand activation mechanisms of human KCNQ2 channel.
  6. 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.
  7. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
    Title: Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
  8. A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to earlyonset epileptic encephalopathy in a female infant.
    Title: A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.
  9. Adult phenotype of KCNQ2 encephalopathy.
    Title: Adult phenotype of KCNQ2 encephalopathy.
  10. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
    Title: KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Submit: New GeneRIF Correction See all GeneRIFs (136)

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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, Q4VXP6
    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
    A0A0G2JH35
    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
    A0A0G2JH35
    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
    A0A0G2JH35
    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
    A0A0G2JH35
    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
    B4DEP4, 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_2023_10

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

  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
    Q4VXP6
    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
    A0A0G2JH35

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

    UniProtKB/TrEMBL
    Q4VXP6

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

    UniProtKB/TrEMBL
    A0A0G2JH35

  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

  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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