KCNQ4

Functionⁱ

Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors.

Miscellaneous

Mutagenesis experiments were carried out by expressing in Xenopus oocytes KCNQ4 mutants either individually (homomultimers) or in combination with wild-type KCNQ4 (mut/wt homomultimers) in a ratio of 1:1, to mimic the situation in a heterozygous DFNA2 patient.

GO - Molecular functionⁱ

calmodulin binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
delayed rectifier potassium channel activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
potassium channel activity
Source: ProtInc
Traceable author statementⁱ
- 10025409
voltage-gated potassium channel activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

inner ear morphogenesis Source: Ensembl
potassium ion transmembrane transport
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
potassium ion transport
Source: ProtInc
Traceable author statementⁱ
- 10025409
regulation of ion transmembrane transport Source: UniProtKB-KW
sensory perception of sound
Source: ProtInc
Traceable author statementⁱ
- 10025409

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Ion channel, Potassium channel, Voltage-gated channel
Biological process	Hearing, Ion transport, Potassium transport, Transport
Ligand	Potassium

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1296072 Voltage gated Potassium channels

Reactomeⁱ

R-HSA-1296072 Voltage gated Potassium channels

Protein family/group databases

TCDBⁱ	1.A.1.15.4 the voltage-gated ion channel (vic) superfamily

TCDBⁱ

1.A.1.15.4 the voltage-gated ion channel (vic) superfamily

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Potassium voltage-gated channel subfamily KQT member 4 Alternative name(s): KQT-like 4 Potassium channel subunit alpha KvLQT4 Voltage-gated potassium channel subunit Kv7.4
Gene namesⁱ	Name:KCNQ4
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000117013.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6298 KCNQ4
MIMⁱ	603537 gene
neXtProtⁱ	NX_P56696

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 97	CytoplasmicSequence analysisAdd BLAST	97
Transmembraneⁱ	98 – 118	Helical; Name=Segment S1Sequence analysisAdd BLAST	21
Topological domainⁱ	119 – 131	ExtracellularSequence analysisAdd BLAST	13
Transmembraneⁱ	132 – 152	Helical; Name=Segment S2Sequence analysisAdd BLAST	21
Topological domainⁱ	153 – 172	CytoplasmicSequence analysisAdd BLAST	20
Transmembraneⁱ	173 – 193	Helical; Name=Segment S3Sequence analysisAdd BLAST	21
Topological domainⁱ	194 – 201	ExtracellularSequence analysis	8
Transmembraneⁱ	202 – 224	Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST	23
Topological domainⁱ	225 – 237	CytoplasmicSequence analysisAdd BLAST	13
Transmembraneⁱ	238 – 258	Helical; Name=Segment S5Sequence analysisAdd BLAST	21
Topological domainⁱ	259 – 270	ExtracellularSequence analysisAdd BLAST	12
Intramembraneⁱ	271 – 292	Pore-forming; Name=Segment H5Sequence analysisAdd BLAST	22
Topological domainⁱ	293 – 296	ExtracellularSequence analysis	4
Transmembraneⁱ	297 – 317	Helical; Name=Segment S6Sequence analysisAdd BLAST	21
Topological domainⁱ	318 – 695	CytoplasmicSequence analysisAdd BLAST	378

Keywords - Cellular componentⁱ

Cell membrane, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Deafness, autosomal dominant, 2A (DFNA2A)5 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	123	E → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	124	H → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	125	Q → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	126	E → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	194	Q → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	196	N → Q: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	205	S → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	210	Q → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	213	R → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	216	R → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	261	K → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	262	D → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	266	D → G: Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation. 1 Publication	1
Mutagenesisⁱ	268	S → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	272	D → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	288	D → G: Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation. 1 Publication	1
Mutagenesisⁱ	290	T → V: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	292	H → G: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	295	L → V: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1
Mutagenesisⁱ	298	V → T: No effect on inhibition by potassium channel toxin SsTX. 1 Publication	1

Keywords - Diseaseⁱ

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET More...DisGeNETⁱ	9132
GeneReviewsⁱ	KCNQ4
MalaCards human disease database More...MalaCardsⁱ	KCNQ4
MIMⁱ	600101 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000117013
Orphanetⁱ	90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBⁱ	PA30076

Chemistry databases

ChEMBLⁱ	CHEMBL3576
Drug and drug target database More...DrugBankⁱ	DB04953 Ezogabine DB06089 ICA-105665
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	563

Polymorphism and mutation databases

BioMutaⁱ	KCNQ4
DMDMⁱ	259016259

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000054037	1 – 695	Potassium voltage-gated channel subfamily KQT member 4Add BLAST		695

Proteomic databases

PaxDbⁱ	P56696
PeptideAtlas More...PeptideAtlasⁱ	P56696
PRIDEⁱ	P56696
ProteomicsDBⁱ	56934 56935 [P56696-2]

PTM databases

iPTMnetⁱ	P56696
PhosphoSitePlusⁱ	P56696

Expressionⁱ

Tissue specificityⁱ

Expressed in the outer, but not the inner, sensory hair cells of the cochlea. Slightly expressed in heart, brain and skeletal muscle.

Gene expression databases

Bgeeⁱ	ENSG00000117013 Expressed in 128 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_KCNQ4
ExpressionAtlasⁱ	P56696 baseline and differential
Genevisibleⁱ	P56696 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA018305

HPAⁱ

HPA018305

Interactionⁱ

Subunit structureⁱ

Homotetramer. May form heteromultimers with KCNQ3. Interacts with HSP90AB1; promotes cell surface expression of KCNQ4 (PubMed:23431407).2 Publications

GO - Molecular functionⁱ

calmodulin binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	114580, 6 interactors
STRINGⁱ	9606.ENSP00000262916

Chemistry databases

BindingDBⁱ

P56696

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Helixⁱ	526 – 548	Combined sources		23
Helixⁱ	612 – 637	Combined sources		26

Show more details

3D structure databases

ProteinModelPortalⁱ	P56696
SMRⁱ	P56696
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P56696

EvolutionaryTraceⁱ

P56696

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	546 – 650	A-domain (Tetramerization)Add BLAST		105

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	610 – 645	Add BLAST		36

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	283 – 288	Selectivity filterBy similarity		6

Domainⁱ

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.By similarity

The A-domain tail carries the major determinants of channel assembly specificity. Its coiled-coil region is Four-stranded.1 Publication

Sequence similaritiesⁱ

Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.4/KCNQ4 sub-subfamily. [View classification]Curated

Keywords - Domainⁱ

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG1419 Eukaryota COG1226 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074513
HOGENOMⁱ	HOG000220839
HOVERGENⁱ	HBG059014
InParanoidⁱ	P56696
KEGG Orthology (KO) More...KOⁱ	K04929
OMAⁱ	HQEFANE
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G02ZT
PhylomeDBⁱ	P56696
TreeFamⁱ	TF315186

Family and domain databases

InterProⁱ	View protein in InterPro IPR005821 Ion_trans_dom IPR003937 K_chnl_volt-dep_KCNQ IPR013821 K_chnl_volt-dep_KCNQ_C IPR015573 KCQN4 IPR028325 VG_K_chnl
PANTHERⁱ	PTHR11537 PTHR11537, 1 hit PTHR11537:SF4 PTHR11537:SF4, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00520 Ion_trans, 1 hit PF03520 KCNQ_channel, 1 hit
PRINTSⁱ	PR00169 KCHANNEL PR01459 KCNQCHANNEL

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show all Align All

Isoform 1 (identifier: P56696-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEAPPRRLG LGPPPGDAPR AELVALTAVQ SEQGEAGGGG SPRRLGLLGS 
        60         70         80         90        100
PLPPGAPLPG PGSGSGSACG QRSSAAHKRY RRLQNWVYNV LERPRGWAFV 
       110        120        130        140        150
YHVFIFLLVF SCLVLSVLST IQEHQELANE CLLILEFVMI VVFGLEYIVR 
       160        170        180        190        200
VWSAGCCCRY RGWQGRFRFA RKPFCVIDFI VFVASVAVIA AGTQGNIFAT 
       210        220        230        240        250
SALRSMRFLQ ILRMVRMDRR GGTWKLLGSV VYAHSKELIT AWYIGFLVLI 
       260        270        280        290        300
FASFLVYLAE KDANSDFSSY ADSLWWGTIT LTTIGYGDKT PHTWLGRVLA 
       310        320        330        340        350
AGFALLGISF FALPAGILGS GFALKVQEQH RQKHFEKRRM PAANLIQAAW 
       360        370        380        390        400
RLYSTDMSRA YLTATWYYYD SILPSFRELA LLFEHVQRAR NGGLRPLEVR 
       410        420        430        440        450
RAPVPDGAPS RYPPVATCHR PGSTSFCPGE SSRMGIKDRI RMGSSQRRTG 
       460        470        480        490        500
PSKQHLAPPT MPTSPSSEQV GEATSPTKVQ KSWSFNDRTR FRASLRLKPR 
       510        520        530        540        550
TSAEDAPSEE VAEEKSYQCE LTVDDIMPAV KTVIRSIRIL KFLVAKRKFK 
       560        570        580        590        600
ETLRPYDVKD VIEQYSAGHL DMLGRIKSLQ TRVDQIVGRG PGDRKAREKG 
       610        620        630        640        650
DKGPSDAEVV DEISMMGRVV KVEKQVQSIE HKLDLLLGFY SRCLRSGTSA 
       660        670        680        690 
SLGAVQVPLF DPDITSDYHS PVDHEDISVS AQTLSISRSV STNMD

Length:695

Mass (Da):77,101

Last modified:September 22, 2009 - v2

Checksum:ⁱ51390F5E00E8C157

GO

Isoform 2 (identifier: P56696-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
377-430: Missing.

« Hide

        10         20         30         40         50
MAEAPPRRLG LGPPPGDAPR AELVALTAVQ SEQGEAGGGG SPRRLGLLGS 
        60         70         80         90        100
PLPPGAPLPG PGSGSGSACG QRSSAAHKRY RRLQNWVYNV LERPRGWAFV 
       110        120        130        140        150
YHVFIFLLVF SCLVLSVLST IQEHQELANE CLLILEFVMI VVFGLEYIVR 
       160        170        180        190        200
VWSAGCCCRY RGWQGRFRFA RKPFCVIDFI VFVASVAVIA AGTQGNIFAT 
       210        220        230        240        250
SALRSMRFLQ ILRMVRMDRR GGTWKLLGSV VYAHSKELIT AWYIGFLVLI 
       260        270        280        290        300
FASFLVYLAE KDANSDFSSY ADSLWWGTIT LTTIGYGDKT PHTWLGRVLA 
       310        320        330        340        350
AGFALLGISF FALPAGILGS GFALKVQEQH RQKHFEKRRM PAANLIQAAW 
       360        370        380        390        400
RLYSTDMSRA YLTATWYYYD SILPSFSSRM GIKDRIRMGS SQRRTGPSKQ 
       410        420        430        440        450
HLAPPTMPTS PSSEQVGEAT SPTKVQKSWS FNDRTRFRAS LRLKPRTSAE 
       460        470        480        490        500
DAPSEEVAEE KSYQCELTVD DIMPAVKTVI RSIRILKFLV AKRKFKETLR 
       510        520        530        540        550
PYDVKDVIEQ YSAGHLDMLG RIKSLQTRVD QIVGRGPGDR KAREKGDKGP 
       560        570        580        590        600
SDAEVVDEIS MMGRVVKVEK QVQSIEHKLD LLLGFYSRCL RSGTSASLGA 
       610        620        630        640 
VQVPLFDPDI TSDYHSPVDH EDISVSAQTL SISRSVSTNM D

Show »

Length:641

Mass (Da):71,196

Checksum:ⁱ769D085366D51552

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	H0Y6N7	H0Y6N7_HUMAN		Potassium voltage-gated channel sub... Potassium voltage-gated channel subfamily KQT member 4	KCNQ4	556	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_010936	274	L → H in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358276EnsemblClinVar.	1
Natural variantⁱVAR_008726	276	W → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358277EnsemblClinVar.	1
Natural variantⁱVAR_010937	281	L → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs80358278EnsemblClinVar.	1
Natural variantⁱVAR_008727	285	G → C in DFNA2A; loss of potassium selectivity of the pore. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar.	1
Natural variantⁱVAR_001547	285	G → S in DFNA2A; dominant negative effect; abolishes potassium current. 1 PublicationCorresponds to variant dbSNP:rs28937588EnsemblClinVar.	1
Natural variantⁱVAR_065779	287	G → R in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs137853969EnsemblClinVar.	1
Natural variantⁱVAR_008728	321	G → S in DFNA2A. 1 PublicationCorresponds to variant dbSNP:rs28939710EnsemblClinVar.	1
Natural variantⁱVAR_058971	455	H → Q1 PublicationCorresponds to variant dbSNP:rs34287852EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_001013	377 – 430	Missing in isoform 2. 1 PublicationAdd BLAST		54

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF105202 mRNA Translation: AAD14680.1 AF105216 AF105215 Genomic DNA Translation: AAD14681.1 AC119677 Genomic DNA No translation available.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS456.1 [P56696-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_004691.2, NM_004700.3 [P56696-1] NP_751895.1, NM_172163.2 [P56696-2]
UniGeneⁱ	Hs.473058

Genome annotation databases

Ensemblⁱ	ENST00000347132; ENSP00000262916; ENSG00000117013 [P56696-1] ENST00000509682; ENSP00000423756; ENSG00000117013 [P56696-2] ENST00000642618; ENSP00000494128; ENSG00000117013 [P56696-1]
GeneIDⁱ	9132
KEGGⁱ	hsa:9132
UCSC genome browser More...UCSCⁱ	uc001cgh.2 human [P56696-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P56696	Potassium voltage-gated channel subfamily KQT member 4		MOUSE		696	UniRef90_P56696
Uncharacterized protein		MACNE		704
Uncharacterized protein		CERAT		700
Uncharacterized protein		RHIBE		700
Uncharacterized protein		CAVPO		699
+69
P56696-2	Uncharacterized protein		RHIBE		646	UniRef90_P56696-2
KCNQ4 isoform 2		PANTR		641
Uncharacterized protein		PANPA		570
Uncharacterized protein		PROCO		641
Uncharacterized protein		MACMU		641
+42

Protein	Similar proteins		Species	Score	Length	Source
P56696	Potassium voltage-gated channel subfamily KQT member 4		MOUSE		696	UniRef50_P56696
Uncharacterized protein		MACNE		704
Uncharacterized protein		RHIBE		700
Uncharacterized protein		CERAT		700
Uncharacterized protein		CAVPO		699
+70
P56696-2	Uncharacterized protein		RHIBE		646	UniRef50_P56696-2
Uncharacterized protein		Cebus capucinus imitator		641
potassium voltage-gated channel subfamily KQT member 4 isoform X2		ODORO		641
potassium voltage-gated channel subfamily KQT member 4 isoform X2		Enhydra lutris kenyoni		641
Uncharacterized protein		PROCO		641
+244

Cross-referencesⁱ

Web resourcesⁱ

Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF105202 mRNA Translation: AAD14680.1 AF105216 AF105215 Genomic DNA Translation: AAD14681.1 AC119677 Genomic DNA No translation available.
CCDSⁱ	CCDS456.1 [P56696-1]
RefSeqⁱ	NP_004691.2, NM_004700.3 [P56696-1] NP_751895.1, NM_172163.2 [P56696-2]
UniGeneⁱ	Hs.473058

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2OVC	X-ray	2.07	A	610-640	[»]
	4GOW	X-ray	2.60	A	522-593	[»]
ProteinModelPortalⁱ	P56696
SMRⁱ	P56696
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	114580, 6 interactors
STRINGⁱ	9606.ENSP00000262916

Chemistry databases

BindingDBⁱ	P56696
ChEMBLⁱ	CHEMBL3576
DrugBankⁱ	DB04953 Ezogabine DB06089 ICA-105665
GuidetoPHARMACOLOGYⁱ	563

Protein family/group databases

TCDBⁱ	1.A.1.15.4 the voltage-gated ion channel (vic) superfamily

TCDBⁱ

1.A.1.15.4 the voltage-gated ion channel (vic) superfamily

PTM databases

iPTMnetⁱ	P56696
PhosphoSitePlusⁱ	P56696

Polymorphism and mutation databases

BioMutaⁱ	KCNQ4
DMDMⁱ	259016259

Proteomic databases

PaxDbⁱ	P56696
PeptideAtlasⁱ	P56696
PRIDEⁱ	P56696
ProteomicsDBⁱ	56934 56935 [P56696-2]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000347132; ENSP00000262916; ENSG00000117013 [P56696-1] ENST00000509682; ENSP00000423756; ENSG00000117013 [P56696-2] ENST00000642618; ENSP00000494128; ENSG00000117013 [P56696-1]
GeneIDⁱ	9132
KEGGⁱ	hsa:9132
UCSCⁱ	uc001cgh.2 human [P56696-1]

Organism-specific databases

CTDⁱ	9132
DisGeNETⁱ	9132
EuPathDBⁱ	HostDB:ENSG00000117013.14
GeneCardsⁱ	KCNQ4
GeneReviewsⁱ	KCNQ4
H-InvDBⁱ	HIX0200020
HGNCⁱ	HGNC:6298 KCNQ4
HPAⁱ	HPA018305
MalaCardsⁱ	KCNQ4
MIMⁱ	600101 phenotype 603537 gene
neXtProtⁱ	NX_P56696
OpenTargetsⁱ	ENSG00000117013
Orphanetⁱ	90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBⁱ	PA30076
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1419 Eukaryota COG1226 LUCA
GeneTreeⁱ	ENSGT00550000074513
HOGENOMⁱ	HOG000220839
HOVERGENⁱ	HBG059014
InParanoidⁱ	P56696
KOⁱ	K04929
OMAⁱ	HQEFANE
OrthoDBⁱ	EOG091G02ZT
PhylomeDBⁱ	P56696
TreeFamⁱ	TF315186

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1296072 Voltage gated Potassium channels

Reactomeⁱ

R-HSA-1296072 Voltage gated Potassium channels

Miscellaneous databases

ChiTaRSⁱ	KCNQ4 human
EvolutionaryTraceⁱ	P56696
GeneWikiⁱ	KCNQ4
GenomeRNAiⁱ	9132
Protein Ontology More...PROⁱ	PR:P56696
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000117013 Expressed in 128 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_KCNQ4
ExpressionAtlasⁱ	P56696 baseline and differential
Genevisibleⁱ	P56696 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR005821 Ion_trans_dom IPR003937 K_chnl_volt-dep_KCNQ IPR013821 K_chnl_volt-dep_KCNQ_C IPR015573 KCQN4 IPR028325 VG_K_chnl
PANTHERⁱ	PTHR11537 PTHR11537, 1 hit PTHR11537:SF4 PTHR11537:SF4, 1 hit
Pfamⁱ	View protein in Pfam PF00520 Ion_trans, 1 hit PF03520 KCNQ_channel, 1 hit
PRINTSⁱ	PR00169 KCHANNEL PR01459 KCNQCHANNEL
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	KCNQ4_HUMAN
Accessionⁱ	P56696Primary (citable) accession number: P56696 Secondary accession number(s): O96025
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
	Last sequence update:	September 22, 2009
	Last modified:	November 7, 2018
	This is version 172 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

UniProtKB

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UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - P56696 (KCNQ4_HUMAN)

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Potassium voltage-gated channel subfamily KQT member 4

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Plasma Membrane

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Coiled coil

Motif

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ