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P56696

- KCNQ4_HUMAN

UniProt

P56696 - KCNQ4_HUMAN

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
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 2 (22 Sep 2009)
      Previous versions | rss
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    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.

    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

    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

    GO - Cellular componenti

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

    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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP56696.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 9797CytoplasmicAdd
    BLAST
    Topological domaini119 – 13113ExtracellularAdd
    BLAST
    Topological domaini153 – 17220CytoplasmicAdd
    BLAST
    Topological domaini194 – 2018Extracellular
    Topological domaini225 – 23713CytoplasmicAdd
    BLAST
    Topological domaini259 – 27012ExtracellularAdd
    BLAST
    Topological domaini293 – 2964Extracellular
    Topological domaini318 – 695378CytoplasmicAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei271 – 29222Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei98 – 11821Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei132 – 15221Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei173 – 19321Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei202 – 22423Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei238 – 25821Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei297 – 31721Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    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 – 64536Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi283 – 2886Selectivity filterBy 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
    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. 1 PublicationVSP_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

    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: October 1, 2014
    This is version 140 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