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Q8TDN2

- KCNV2_HUMAN

UniProt

Q8TDN2 - KCNV2_HUMAN

Protein

Potassium voltage-gated channel subfamily V member 2

Gene

KCNV2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.

    GO - Molecular functioni

    1. delayed rectifier potassium channel activity Source: RefGenome

    GO - Biological processi

    1. protein homooligomerization Source: InterPro
    2. synaptic transmission Source: Reactome

    Keywords - Molecular functioni

    Ion channel, Potassium channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Transport

    Keywords - Ligandi

    Potassium

    Enzyme and pathway databases

    ReactomeiREACT_75770. Voltage gated Potassium channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Potassium voltage-gated channel subfamily V member 2
    Alternative name(s):
    Voltage-gated potassium channel subunit Kv8.2
    Gene namesi
    Name:KCNV2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:19698. KCNV2.

    Subcellular locationi

    Cell membrane; Multi-pass membrane protein
    Note: Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1.

    GO - Cellular componenti

    1. plasma membrane Source: Reactome
    2. voltage-gated potassium channel complex Source: InterPro

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Cone dystrophy retinal 3B (RCD3B) [MIM:610356]: A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti126 – 1261L → Q in RCD3B. 1 Publication
    VAR_027632
    Natural varianti188 – 1881W → C in RCD3B. 1 Publication
    VAR_027633
    Natural varianti256 – 2561S → W in RCD3B. 1 Publication
    VAR_027634
    Natural varianti259 – 2591A → V in RCD3B. 1 Publication
    VAR_027635
    Natural varianti339 – 3413Missing in RCD3B.
    VAR_027636
    Natural varianti459 – 4591G → D in RCD3B. 1 Publication
    VAR_027637

    Keywords - Diseasei

    Cone-rod dystrophy, Disease mutation

    Organism-specific databases

    MIMi610356. phenotype.
    Orphaneti209932. Cone dystrophy with supernormal rod response.
    PharmGKBiPA134992655.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 545545Potassium voltage-gated channel subfamily V member 2PRO_0000054094Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi440 – 4401N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ8TDN2.
    PRIDEiQ8TDN2.

    PTM databases

    PhosphoSiteiQ8TDN2.

    Expressioni

    Tissue specificityi

    Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon.1 Publication

    Gene expression databases

    BgeeiQ8TDN2.
    CleanExiHS_KCNV2.
    GenevestigatoriQ8TDN2.

    Organism-specific databases

    HPAiHPA031131.

    Interactioni

    Subunit structurei

    Heteromultimer with KCNB1, KCNC1 and KCNF1. Does not form homomultimers.1 Publication

    Protein-protein interaction databases

    BioGridi127982. 3 interactions.
    STRINGi9606.ENSP00000371514.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TDN2.
    SMRiQ8TDN2. Positions 101-502.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 155155CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini177 – 26185ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini283 – 33654CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini358 – 37417ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini396 – 41015CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini432 – 44413ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini466 – 4716ExtracellularSequence Analysis
    Topological domaini493 – 54553CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei445 – 46521Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei156 – 17621Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei262 – 28221Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei337 – 35721Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei375 – 39521Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei411 – 43121Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei472 – 49221Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi457 – 4626Selectivity 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.

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1226.
    HOGENOMiHOG000231016.
    HOVERGENiHBG095321.
    InParanoidiQ8TDN2.
    KOiK04935.
    OMAiEELGYWG.
    OrthoDBiEOG7CRTPP.
    PhylomeDBiQ8TDN2.
    TreeFamiTF313103.

    Family and domain databases

    Gene3Di1.20.120.350. 1 hit.
    3.30.710.10. 1 hit.
    InterProiIPR011333. BTB/POZ_fold.
    IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR003091. K_chnl.
    IPR003968. K_chnl_volt-dep_Kv.
    IPR003971. K_chnl_volt-dep_Kv9.
    IPR003131. T1-type_BTB.
    IPR028325. VG_K_chnl.
    [Graphical view]
    PANTHERiPTHR11537. PTHR11537. 1 hit.
    PfamiPF02214. BTB_2. 1 hit.
    PF00520. Ion_trans. 1 hit.
    [Graphical view]
    PRINTSiPR00169. KCHANNEL.
    PR01494. KV9CHANNEL.
    PR01491. KVCHANNEL.
    SUPFAMiSSF54695. SSF54695. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q8TDN2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLKQSERRRS WSYRPWNTTE NEGSQHRRSI CSLGARSGSQ ASIHGWTEGN    50
    YNYYIEEDED GEEEDQWKDD LAEEDQQAGE VTTAKPEGPS DPPALLSTLN 100
    VNVGGHSYQL DYCELAGFPK TRLGRLATST SRSRQLSLCD DYEEQTDEYF 150
    FDRDPAVFQL VYNFYLSGVL LVLDGLCPRR FLEELGYWGV RLKYTPRCCR 200
    ICFEERRDEL SERLKIQHEL RAQAQVEEAE ELFRDMRFYG PQRRRLWNLM 250
    EKPFSSVAAK AIGVASSTFV LVSVVALALN TVEEMQQHSG QGEGGPDLRP 300
    ILEHVEMLCM GFFTLEYLLR LASTPDLRRF ARSALNLVDL VAILPLYLQL 350
    LLECFTGEGH QRGQTVGSVG KVGQVLRVMR LMRIFRILKL ARHSTGLRAF 400
    GFTLRQCYQQ VGCLLLFIAM GIFTFSAAVY SVEHDVPSTN FTTIPHSWWW 450
    AAVSISTVGY GDMYPETHLG RFFAFLCIAF GIILNGMPIS ILYNKFSDYY 500
    SKLKAYEYTT IRRERGEVNF MQRARKKIAE CLLGSNPQLT PRQEN 545
    Length:545
    Mass (Da):62,459
    Last modified:June 1, 2002 - v1
    Checksum:i72D175B4C0C6B1DA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti126 – 1261L → Q in RCD3B. 1 Publication
    VAR_027632
    Natural varianti188 – 1881W → C in RCD3B. 1 Publication
    VAR_027633
    Natural varianti256 – 2561S → W in RCD3B. 1 Publication
    VAR_027634
    Natural varianti259 – 2591A → V in RCD3B. 1 Publication
    VAR_027635
    Natural varianti339 – 3413Missing in RCD3B.
    VAR_027636
    Natural varianti459 – 4591G → D in RCD3B. 1 Publication
    VAR_027637
    Natural varianti533 – 5331L → V.1 Publication
    Corresponds to variant rs12352254 [ dbSNP | Ensembl ].
    VAR_027638

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF348983 mRNA. Translation: AAL83910.1.
    AL354723 Genomic DNA. Translation: CAI15124.1.
    BC101352 mRNA. Translation: AAI01353.1.
    BC101353 mRNA. Translation: AAI01354.1.
    CCDSiCCDS6447.1.
    RefSeqiNP_598004.1. NM_133497.3.
    UniGeneiHs.622675.
    Hs.624689.
    Hs.740173.

    Genome annotation databases

    EnsembliENST00000382082; ENSP00000371514; ENSG00000168263.
    GeneIDi169522.
    KEGGihsa:169522.
    UCSCiuc003zho.2. human.

    Polymorphism databases

    DMDMi26006804.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF348983 mRNA. Translation: AAL83910.1 .
    AL354723 Genomic DNA. Translation: CAI15124.1 .
    BC101352 mRNA. Translation: AAI01353.1 .
    BC101353 mRNA. Translation: AAI01354.1 .
    CCDSi CCDS6447.1.
    RefSeqi NP_598004.1. NM_133497.3.
    UniGenei Hs.622675.
    Hs.624689.
    Hs.740173.

    3D structure databases

    ProteinModelPortali Q8TDN2.
    SMRi Q8TDN2. Positions 101-502.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127982. 3 interactions.
    STRINGi 9606.ENSP00000371514.

    Chemistry

    ChEMBLi CHEMBL2362996.

    PTM databases

    PhosphoSitei Q8TDN2.

    Polymorphism databases

    DMDMi 26006804.

    Proteomic databases

    PaxDbi Q8TDN2.
    PRIDEi Q8TDN2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000382082 ; ENSP00000371514 ; ENSG00000168263 .
    GeneIDi 169522.
    KEGGi hsa:169522.
    UCSCi uc003zho.2. human.

    Organism-specific databases

    CTDi 169522.
    GeneCardsi GC09P002705.
    H-InvDB HIX0035118.
    HGNCi HGNC:19698. KCNV2.
    HPAi HPA031131.
    MIMi 607604. gene.
    610356. phenotype.
    neXtProti NX_Q8TDN2.
    Orphaneti 209932. Cone dystrophy with supernormal rod response.
    PharmGKBi PA134992655.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1226.
    HOGENOMi HOG000231016.
    HOVERGENi HBG095321.
    InParanoidi Q8TDN2.
    KOi K04935.
    OMAi EELGYWG.
    OrthoDBi EOG7CRTPP.
    PhylomeDBi Q8TDN2.
    TreeFami TF313103.

    Enzyme and pathway databases

    Reactomei REACT_75770. Voltage gated Potassium channels.

    Miscellaneous databases

    GeneWikii KCNV2.
    GenomeRNAii 169522.
    NextBioi 88815.
    PROi Q8TDN2.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8TDN2.
    CleanExi HS_KCNV2.
    Genevestigatori Q8TDN2.

    Family and domain databases

    Gene3Di 1.20.120.350. 1 hit.
    3.30.710.10. 1 hit.
    InterProi IPR011333. BTB/POZ_fold.
    IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR003091. K_chnl.
    IPR003968. K_chnl_volt-dep_Kv.
    IPR003971. K_chnl_volt-dep_Kv9.
    IPR003131. T1-type_BTB.
    IPR028325. VG_K_chnl.
    [Graphical view ]
    PANTHERi PTHR11537. PTHR11537. 1 hit.
    Pfami PF02214. BTB_2. 1 hit.
    PF00520. Ion_trans. 1 hit.
    [Graphical view ]
    PRINTSi PR00169. KCHANNEL.
    PR01494. KV9CHANNEL.
    PR01491. KVCHANNEL.
    SUPFAMi SSF54695. SSF54695. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome."
      Ottschytsch N., Raes A., Van Hoorick D., Snyders D.J.
      Proc. Natl. Acad. Sci. U.S.A. 99:7986-7991(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBUNIT, TISSUE SPECIFICITY.
      Tissue: Brain.
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause 'cone dystrophy with supernormal rod electroretinogram' in humans."
      Wu H., Cowing J.A., Michaelides M., Wilkie S.E., Jeffery G., Jenkins S.A., Mester V., Bird A.C., Robson A.G., Holder G.E., Moore A.T., Hunt D.M., Webster A.R.
      Am. J. Hum. Genet. 79:574-579(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RCD3B GLN-126; CYS-188; TRP-256; VAL-259; 339-ASP--VAL-341 DEL AND ASP-459, VARIANT VAL-533.

    Entry informationi

    Entry nameiKCNV2_HUMAN
    AccessioniPrimary (citable) accession number: Q8TDN2
    Secondary accession number(s): Q5T6X0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 28, 2002
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 113 of the entry and version 1 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3