Format

Send to:

Choose Destination

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

Gene ID: 3785, updated on 19-Mar-2019

Summary

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
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; 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

Genomic context

See KCNQ2 in Genome Data Viewer
Location:
20q13.33
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (63400208..63472677, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62031561..62103993, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 994, pseudogene Neighboring gene cholinergic receptor nicotinic alpha 4 subunit Neighboring gene uncharacterized LOC100130587 Neighboring gene uncharacterized LOC105372724 Neighboring gene uncharacterized LOC105372721 Neighboring gene uncharacterized LOC105372720 Neighboring gene uncharacterized LOC105372725 Neighboring gene eukaryotic translation elongation factor 1 alpha 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Cholinergic synapse, organism-specific biosystem (from KEGG)
    Cholinergic synapse, organism-specific biosystemAcetylcholine (ACh) is a neurotransmitter widely distributed in the central (and also peripheral, autonomic and enteric) nervous system (CNS). In the CNS, ACh facilitates many functions, such as lear...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
    Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ankyrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon initial segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon initial segment ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
node of Ranvier ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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
    4964..77427
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004518.5NP_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/Swiss-Prot
    O43526
    Related
    ENSP00000353668.3, ENST00000360480.7
    Conserved Domains (5) summary
    pfam00520
    Location:119324
    Ion_trans; Ion transport protein
    pfam03520
    Location:444629
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240314
    Ion_trans_2; Ion channel
    pfam11956
    Location:753840
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:638728
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
  2. NM_172106.2NP_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/Swiss-Prot
    O43526
    Related
    ENSP00000486706.1, ENST00000626839.2
    Conserved Domains (5) summary
    pfam00520
    Location:119324
    Ion_trans; Ion transport protein
    pfam03520
    Location:454639
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240314
    Ion_trans_2; Ion channel
    pfam11956
    Location:763850
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:648738
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
  3. NM_172107.3NP_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
    Related
    ENSP00000352035.2, ENST00000359125.6
    Conserved Domains (5) summary
    pfam00520
    Location:119324
    Ion_trans; Ion transport protein
    pfam03520
    Location:472657
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240314
    Ion_trans_2; Ion channel
    pfam11956
    Location:781868
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:666756
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
  4. NM_172108.4NP_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/Swiss-Prot
    O43526
    Related
    ENSP00000339611.4, ENST00000344462.8
    Conserved Domains (5) summary
    pfam00520
    Location:119324
    Ion_trans; Ion transport protein
    pfam03520
    Location:442626
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240314
    Ion_trans_2; Ion channel
    pfam11956
    Location:750837
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:635725
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
  5. NM_172109.2NP_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, D82346, DB636326
    Consensus CDS
    CCDS13521.1
    UniProtKB/Swiss-Prot
    O43526
    UniProtKB/TrEMBL
    Q53Y30
    Related
    ENSP00000345523.5, ENST00000344425.7
    Conserved Domains (1) summary
    pfam00520
    Location:92324
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    63400208..63472677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528811.2XP_011527113.1  potassium voltage-gated channel subfamily KQT member 2 isoform X3

    Related
    ENSP00000359244.2, ENST00000370224.5
    Conserved Domains (5) summary
    pfam00520
    Location:119324
    Ion_trans; Ion transport protein
    pfam03520
    Location:444665
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240314
    Ion_trans_2; Ion channel
    pfam11956
    Location:789876
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:674764
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
  2. XM_017027844.2XP_016883333.1  potassium voltage-gated channel subfamily KQT member 2 isoform X6

  3. XM_017027841.2XP_016883330.1  potassium voltage-gated channel subfamily KQT member 2 isoform X2

  4. XM_011528810.2XP_011527112.1  potassium voltage-gated channel subfamily KQT member 2 isoform X1

    Conserved Domains (5) summary
    pfam00520
    Location:119324
    Ion_trans; Ion transport protein
    pfam03520
    Location:454675
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:240314
    Ion_trans_2; Ion channel
    pfam11956
    Location:799886
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
    pfam16642
    Location:684774
    KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
  5. XM_017027842.2XP_016883331.1  potassium voltage-gated channel subfamily KQT member 2 isoform X4

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

  7. XM_017027845.1XP_016883334.1  potassium voltage-gated channel subfamily KQT member 2 isoform X7

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187625.1 Reference GRCh38.p12 ALT_REF_LOCI_1

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