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Q8TDN2

- KCNV2_HUMAN

UniProt

Q8TDN2 - KCNV2_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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. 1 Publication
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.
GeneTreeiENSGT00760000118981.
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

        10         20         30         40         50
MLKQSERRRS WSYRPWNTTE NEGSQHRRSI CSLGARSGSQ ASIHGWTEGN
60 70 80 90 100
YNYYIEEDED GEEEDQWKDD LAEEDQQAGE VTTAKPEGPS DPPALLSTLN
110 120 130 140 150
VNVGGHSYQL DYCELAGFPK TRLGRLATST SRSRQLSLCD DYEEQTDEYF
160 170 180 190 200
FDRDPAVFQL VYNFYLSGVL LVLDGLCPRR FLEELGYWGV RLKYTPRCCR
210 220 230 240 250
ICFEERRDEL SERLKIQHEL RAQAQVEEAE ELFRDMRFYG PQRRRLWNLM
260 270 280 290 300
EKPFSSVAAK AIGVASSTFV LVSVVALALN TVEEMQQHSG QGEGGPDLRP
310 320 330 340 350
ILEHVEMLCM GFFTLEYLLR LASTPDLRRF ARSALNLVDL VAILPLYLQL
360 370 380 390 400
LLECFTGEGH QRGQTVGSVG KVGQVLRVMR LMRIFRILKL ARHSTGLRAF
410 420 430 440 450
GFTLRQCYQQ VGCLLLFIAM GIFTFSAAVY SVEHDVPSTN FTTIPHSWWW
460 470 480 490 500
AAVSISTVGY GDMYPETHLG RFFAFLCIAF GIILNGMPIS ILYNKFSDYY
510 520 530 540
SKLKAYEYTT IRRERGEVNF MQRARKKIAE CLLGSNPQLT PRQEN
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. 1 Publication
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.
GeneTreei ENSGT00760000118981.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 114 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