KCNQ2

GENERAL INFORMATION

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Gene name

KCNQ2

Gene description

Potassium voltage-gated channel, KQT-like subfamily, member 2

Protein class

Disease related genes
FDA approved drug targets
Plasma proteins
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (adrenal gland, cerebral cortex, testis)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus, testis)

Protein evidence

Evidence at protein level

Protein localization

Nuclear expression in CNS and testis.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Sub cellular location is contradicted by external data. Pending external verification.

Data reliability

Uncertain based on 2 antibodies.
HPA016642 , HPA057112
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Hippocampus

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (adrenal gland, cerebral cortex, testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus, testis)

Organ

Expression



GENE INFORMATION

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Gene name

KCNQ2 (HGNC Symbol)

Synonyms

BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, Kv7.2

Description

Potassium voltage-gated channel, KQT-like subfamily, member 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

20

Cytoband

q13.33

Chromosome location (bp)

63406039 - 63472638

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000075043 (version 78.38)

Entrez gene

3785

UniProt

O43526 (UniProt - Evidence at protein level)

neXtProt

NX_O43526

Antibodypedia

KCNQ2 antibodies


PROTEIN BROWSER

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ENST00000344425
 
ENST00000344462
 
ENST00000357249
 
ENST00000359125
 
ENST00000360480
 
ENST00000370224
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KCNQ2-001 ENSP00000349789
ENST00000357249
O43526
Show all »
Show » Show » 854 94.1 No 6
KCNQ2-003 ENSP00000352035
ENST00000359125
O43526
Show all »
Show » Show » 872 95.8 No 6
KCNQ2-006 ENSP00000345523
ENST00000344425
O43526
Show all »
Show » Show » 393 44.3 No 6
KCNQ2-007 ENSP00000359244
ENST00000370224
Q4VXP6
Show all »
Show » Show » 880 97.1 No 5
KCNQ2-011 ENSP00000353668
ENST00000360480
O43526
Show all »
Show » Show » 844 93.1 No 6
KCNQ2-012 ENSP00000339611
ENST00000344462
O43526
Show all »
Show » Show » 841 92.6 No 5