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P56696

- KCNQ4_HUMAN

UniProt

P56696 - KCNQ4_HUMAN

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Protein

Potassium voltage-gated channel subfamily KQT member 4

Gene
KCNQ4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.1 Publication

GO - Molecular functioni

  1. delayed rectifier potassium channel activity Source: RefGenome
  2. potassium channel activity Source: ProtInc

GO - Biological processi

  1. inner ear morphogenesis Source: Ensembl
  2. potassium ion transport Source: ProtInc
  3. sensory perception of sound Source: ProtInc
  4. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Hearing, Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiREACT_75770. Voltage gated Potassium channels.

Protein family/group databases

TCDBi1.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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:6298. KCNQ4.

Subcellular locationi

Basal cell membrane; Multi-pass membrane protein
Note: Situated at the basal membrane of cochlear outer hair cells By similarity.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 9797CytoplasmicAdd
BLAST
Transmembranei98 – 11821Helical; Name=Segment S1; Reviewed predictionAdd
BLAST
Topological domaini119 – 13113ExtracellularAdd
BLAST
Transmembranei132 – 15221Helical; Name=Segment S2; Reviewed predictionAdd
BLAST
Topological domaini153 – 17220CytoplasmicAdd
BLAST
Transmembranei173 – 19321Helical; Name=Segment S3; Reviewed predictionAdd
BLAST
Topological domaini194 – 2018Extracellular
Transmembranei202 – 22423Helical; Voltage-sensor; Name=Segment S4; Reviewed predictionAdd
BLAST
Topological domaini225 – 23713CytoplasmicAdd
BLAST
Transmembranei238 – 25821Helical; Name=Segment S5; Reviewed predictionAdd
BLAST
Topological domaini259 – 27012ExtracellularAdd
BLAST
Intramembranei271 – 29222Pore-forming; Name=Segment H5; Reviewed predictionAdd
BLAST
Topological domaini293 – 2964Extracellular
Transmembranei297 – 31721Helical; Name=Segment S6; Reviewed predictionAdd
BLAST
Topological domaini318 – 695378CytoplasmicAdd
BLAST

GO - Cellular componenti

  1. basal plasma membrane Source: UniProtKB-SubCell
  2. plasma membrane Source: Reactome
  3. voltage-gated potassium channel complex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti274 – 2741L → H in DFNA2A. 1 Publication
VAR_010936
Natural varianti276 – 2761W → S in DFNA2A. 1 Publication
VAR_008726
Natural varianti281 – 2811L → S in DFNA2A. 1 Publication
VAR_010937
Natural varianti285 – 2851G → C in DFNA2A; loss of potassium selectivity of the pore. 1 Publication
VAR_008727
Natural varianti285 – 2851G → S in DFNA2A; dominant negative effect; abolishes potassium current. 1 Publication
Corresponds to variant rs28937588 [ dbSNP | Ensembl ].
VAR_001547
Natural varianti287 – 2871G → R in DFNA2A. 1 Publication
VAR_065779
Natural varianti321 – 3211G → S in DFNA2A. 1 Publication
Corresponds to variant rs28939710 [ dbSNP | Ensembl ].
VAR_008728

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MIMi600101. phenotype.
Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBiPA30076.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 695695Potassium voltage-gated channel subfamily KQT member 4PRO_0000054037Add
BLAST

Proteomic databases

PaxDbiP56696.
PRIDEiP56696.

PTM databases

PhosphoSiteiP56696.

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

BgeeiP56696.
CleanExiHS_KCNQ4.
GenevestigatoriP56696.

Organism-specific databases

HPAiHPA018305.

Interactioni

Subunit structurei

Homotetramer. May form heteromultimers with KCNQ3.1 Publication

Protein-protein interaction databases

BioGridi114580. 6 interactions.
STRINGi9606.ENSP00000262916.

Structurei

Secondary structure

1
695
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi526 – 54823
Helixi612 – 63726

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2OVCX-ray2.07A610-640[»]
4GOWX-ray2.60A522-593[»]
ProteinModelPortaliP56696.
SMRiP56696. Positions 119-334, 524-549, 611-640.

Miscellaneous databases

EvolutionaryTraceiP56696.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni546 – 650105A-domain (Tetramerization)Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili610 – 645361 PublicationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi283 – 2886Selectivity filter By similarity

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

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1226.
HOGENOMiHOG000220839.
HOVERGENiHBG059014.
InParanoidiP56696.
KOiK04929.
OMAiWAFVYHV.
OrthoDBiEOG73804Z.
PhylomeDBiP56696.
TreeFamiTF315186.

Family and domain databases

InterProiIPR005821. Ion_trans_dom.
IPR003091. K_chnl.
IPR003937. K_chnl_volt-dep_KCNQ.
IPR013821. K_chnl_volt-dep_KCNQ_C.
IPR015573. KCQN4.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERiPTHR11537. PTHR11537. 1 hit.
PTHR11537:SF4. PTHR11537:SF4. 1 hit.
PfamiPF00520. Ion_trans. 1 hit.
PF03520. KCNQ_channel. 1 hit.
[Graphical view]
PRINTSiPR00169. KCHANNEL.
PR01459. KCNQCHANNEL.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: P56696-1) [UniParc]FASTAAdd 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

MAEAPPRRLG LGPPPGDAPR AELVALTAVQ SEQGEAGGGG SPRRLGLLGS    50
PLPPGAPLPG PGSGSGSACG QRSSAAHKRY RRLQNWVYNV LERPRGWAFV 100
YHVFIFLLVF SCLVLSVLST IQEHQELANE CLLILEFVMI VVFGLEYIVR 150
VWSAGCCCRY RGWQGRFRFA RKPFCVIDFI VFVASVAVIA AGTQGNIFAT 200
SALRSMRFLQ ILRMVRMDRR GGTWKLLGSV VYAHSKELIT AWYIGFLVLI 250
FASFLVYLAE KDANSDFSSY ADSLWWGTIT LTTIGYGDKT PHTWLGRVLA 300
AGFALLGISF FALPAGILGS GFALKVQEQH RQKHFEKRRM PAANLIQAAW 350
RLYSTDMSRA YLTATWYYYD SILPSFRELA LLFEHVQRAR NGGLRPLEVR 400
RAPVPDGAPS RYPPVATCHR PGSTSFCPGE SSRMGIKDRI RMGSSQRRTG 450
PSKQHLAPPT MPTSPSSEQV GEATSPTKVQ KSWSFNDRTR FRASLRLKPR 500
TSAEDAPSEE VAEEKSYQCE LTVDDIMPAV KTVIRSIRIL KFLVAKRKFK 550
ETLRPYDVKD VIEQYSAGHL DMLGRIKSLQ TRVDQIVGRG PGDRKAREKG 600
DKGPSDAEVV DEISMMGRVV KVEKQVQSIE HKLDLLLGFY SRCLRSGTSA 650
SLGAVQVPLF DPDITSDYHS PVDHEDISVS AQTLSISRSV STNMD 695
Length:695
Mass (Da):77,101
Last modified:September 22, 2009 - v2
Checksum:i51390F5E00E8C157
GO
Isoform 2 (identifier: P56696-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:641
Mass (Da):71,196
Checksum:i769D085366D51552
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti274 – 2741L → H in DFNA2A. 1 Publication
VAR_010936
Natural varianti276 – 2761W → S in DFNA2A. 1 Publication
VAR_008726
Natural varianti281 – 2811L → S in DFNA2A. 1 Publication
VAR_010937
Natural varianti285 – 2851G → C in DFNA2A; loss of potassium selectivity of the pore. 1 Publication
VAR_008727
Natural varianti285 – 2851G → S in DFNA2A; dominant negative effect; abolishes potassium current. 1 Publication
Corresponds to variant rs28937588 [ dbSNP | Ensembl ].
VAR_001547
Natural varianti287 – 2871G → R in DFNA2A. 1 Publication
VAR_065779
Natural varianti321 – 3211G → S in DFNA2A. 1 Publication
Corresponds to variant rs28939710 [ dbSNP | Ensembl ].
VAR_008728
Natural varianti455 – 4551H → Q.1 Publication
Corresponds to variant rs34287852 [ dbSNP | Ensembl ].
VAR_058971

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei377 – 43054Missing in isoform 2. VSP_001013Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF105202 mRNA. Translation: AAD14680.1.
AF105216
, AF105203, AF105204, AF105205, AF105206, AF105207, AF105208, AF105209, AF105210, AF105211, AF105212, AF105213, AF105214, AF105215 Genomic DNA. Translation: AAD14681.1.
AC119677 Genomic DNA. No translation available.
CCDSiCCDS456.1. [P56696-1]
RefSeqiNP_004691.2. NM_004700.3. [P56696-1]
NP_751895.1. NM_172163.2. [P56696-2]
UniGeneiHs.473058.

Genome annotation databases

EnsembliENST00000347132; ENSP00000262916; ENSG00000117013. [P56696-1]
ENST00000509682; ENSP00000423756; ENSG00000117013. [P56696-2]
GeneIDi9132.
KEGGihsa:9132.
UCSCiuc001cgh.2. human. [P56696-1]
uc001cgi.2. human. [P56696-2]

Polymorphism databases

DMDMi259016259.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF105202 mRNA. Translation: AAD14680.1 .
AF105216
, AF105203 , AF105204 , AF105205 , AF105206 , AF105207 , AF105208 , AF105209 , AF105210 , AF105211 , AF105212 , AF105213 , AF105214 , 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:
PDBe
RCSB PDB
PDBj
Links Updated
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. Positions 119-334, 524-549, 611-640.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114580. 6 interactions.
STRINGi 9606.ENSP00000262916.

Chemistry

ChEMBLi CHEMBL3576.
GuidetoPHARMACOLOGYi 563.

Protein family/group databases

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

PTM databases

PhosphoSitei P56696.

Polymorphism databases

DMDMi 259016259.

Proteomic databases

PaxDbi P56696.
PRIDEi P56696.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000347132 ; ENSP00000262916 ; ENSG00000117013 . [P56696-1 ]
ENST00000509682 ; ENSP00000423756 ; ENSG00000117013 . [P56696-2 ]
GeneIDi 9132.
KEGGi hsa:9132.
UCSCi uc001cgh.2. human. [P56696-1 ]
uc001cgi.2. human. [P56696-2 ]

Organism-specific databases

CTDi 9132.
GeneCardsi GC01P041249.
GeneReviewsi KCNQ4.
H-InvDB HIX0200020.
HGNCi HGNC:6298. KCNQ4.
HPAi HPA018305.
MIMi 600101. phenotype.
603537. gene.
neXtProti NX_P56696.
Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBi PA30076.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1226.
HOGENOMi HOG000220839.
HOVERGENi HBG059014.
InParanoidi P56696.
KOi K04929.
OMAi WAFVYHV.
OrthoDBi EOG73804Z.
PhylomeDBi P56696.
TreeFami TF315186.

Enzyme and pathway databases

Reactomei REACT_75770. Voltage gated Potassium channels.

Miscellaneous databases

EvolutionaryTracei P56696.
GeneWikii KCNQ4.
GenomeRNAii 9132.
NextBioi 34237.
PROi P56696.
SOURCEi Search...

Gene expression databases

Bgeei P56696.
CleanExi HS_KCNQ4.
Genevestigatori P56696.

Family and domain databases

InterProi IPR005821. Ion_trans_dom.
IPR003091. K_chnl.
IPR003937. K_chnl_volt-dep_KCNQ.
IPR013821. K_chnl_volt-dep_KCNQ_C.
IPR015573. KCQN4.
IPR028325. VG_K_chnl.
[Graphical view ]
PANTHERi PTHR11537. PTHR11537. 1 hit.
PTHR11537:SF4. PTHR11537:SF4. 1 hit.
Pfami PF00520. Ion_trans. 1 hit.
PF03520. KCNQ_channel. 1 hit.
[Graphical view ]
PRINTSi PR00169. KCHANNEL.
PR01459. KCNQCHANNEL.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness."
    Kubisch C., Schroeder B.C., Friedrich T., Luetjohann B., El-Amraoui A., Marlin S., Petit C., Jentsch T.J.
    Cell 96:437-446(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANT DFNA2A SER-285, VARIANT GLN-455, CHARACTERIZATION OF VARIANT DFNA2A SER-285.
    Tissue: Retina.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors."
    Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Jentsch T.J., Brown D.A.
    J. Physiol. (Lond.) 522:349-355(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INHIBITION BY M1 MUSCARINIC RECEPTORS.
  4. "KCNQ4 channels expressed in mammalian cells: functional characteristics and pharmacology."
    Soegaard R., Ljungstroem T., Pedersen K.A., Oelesen S.-P., Jensen B.S.
    Am. J. Physiol. 280:C859-C866(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHARMACOLOGICAL CHARACTERIZATION, POSSIBLE FUNCTION.
  5. "Structural insight into KCNQ (Kv7) channel assembly and channelopathy."
    Howard R.J., Clark K.A., Holton J.M., Minor D.L. Jr.
    Neuron 53:663-675(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.07 ANGSTROMS) OF 610-640, SUBUNIT, DOMAIN COILED-COIL.
  6. Cited for: VARIANTS DFNA2A SER-276; CYS-285 AND SER-321.
  7. "Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss."
    Talebizadeh Z., Kelley P.M., Askew J.W., Beisel K.W., Smith S.D.
    Hum. Mutat. 14:493-501(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA2A SER-281.
  8. "Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region."
    Van Hauwe P., Coucke P.J., Ensink R.J., Huygen P., Cremers C.W.R.J., Van Camp G.
    Am. J. Med. Genet. 93:184-187(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA2A HIS-274.
  9. "Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene."
    Arnett J., Emery S.B., Kim T.B., Boerst A.K., Lee K., Leal S.M., Lesperance M.M.
    Arch. Otolaryngol. Head Neck Surg. 137:54-59(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA2A ARG-287.

Entry informationi

Entry nameiKCNQ4_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

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