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Protein

Potassium voltage-gated channel subfamily V member 2

Gene

KCNV2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

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

BioCyciZFISH:ENSG00000168263-MONOMER.
ReactomeiR-HSA-1296072. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:19698. KCNV2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 155CytoplasmicSequence analysisAdd BLAST155
Transmembranei156 – 176Helical; Name=Segment S1Sequence analysisAdd BLAST21
Topological domaini177 – 261ExtracellularSequence analysisAdd BLAST85
Transmembranei262 – 282Helical; Name=Segment S2Sequence analysisAdd BLAST21
Topological domaini283 – 336CytoplasmicSequence analysisAdd BLAST54
Transmembranei337 – 357Helical; Name=Segment S3Sequence analysisAdd BLAST21
Topological domaini358 – 374ExtracellularSequence analysisAdd BLAST17
Transmembranei375 – 395Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST21
Topological domaini396 – 410CytoplasmicSequence analysisAdd BLAST15
Transmembranei411 – 431Helical; Name=Segment S5Sequence analysisAdd BLAST21
Topological domaini432 – 444ExtracellularSequence analysisAdd BLAST13
Intramembranei445 – 465Pore-forming; Name=Segment H5Sequence analysisAdd BLAST21
Topological domaini466 – 471ExtracellularSequence analysis6
Transmembranei472 – 492Helical; Name=Segment S6Sequence analysisAdd BLAST21
Topological domaini493 – 545CytoplasmicSequence analysisAdd BLAST53

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Cone dystrophy retinal 3B (RCD3B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610356
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027632126L → Q in RCD3B. 1 Publication1
Natural variantiVAR_027633188W → C in RCD3B. 1 PublicationCorresponds to variant rs772921412dbSNPEnsembl.1
Natural variantiVAR_027634256S → W in RCD3B. 1 PublicationCorresponds to variant rs104894116dbSNPEnsembl.1
Natural variantiVAR_027635259A → V in RCD3B. 1 Publication1
Natural variantiVAR_027636339 – 341Missing in RCD3B. 1 Publication3
Natural variantiVAR_027637459G → D in RCD3B. 1 PublicationCorresponds to variant rs104894115dbSNPEnsembl.1

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation

Organism-specific databases

DisGeNETi169522.
MalaCardsiKCNV2.
MIMi610356. phenotype.
OpenTargetsiENSG00000168263.
Orphaneti209932. Cone dystrophy with supernormal rod response.
PharmGKBiPA134992655.

Chemistry databases

ChEMBLiCHEMBL2362996.

Polymorphism and mutation databases

BioMutaiKCNV2.
DMDMi26006804.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000540941 – 545Potassium voltage-gated channel subfamily V member 2Add BLAST545

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi440N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8TDN2.
PeptideAtlasiQ8TDN2.
PRIDEiQ8TDN2.

PTM databases

iPTMnetiQ8TDN2.
PhosphoSitePlusiQ8TDN2.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000168263.
CleanExiHS_KCNV2.
GenevisibleiQ8TDN2. HS.

Organism-specific databases

HPAiHPA031131.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi127982. 6 interactors.
IntActiQ8TDN2. 1 interactor.
STRINGi9606.ENSP00000371514.

Structurei

3D structure databases

ProteinModelPortaliQ8TDN2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi457 – 462Selectivity filterBy similarity6

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

eggNOGiKOG3713. Eukaryota.
COG1226. LUCA.
GeneTreeiENSGT00760000118981.
HOGENOMiHOG000231016.
HOVERGENiHBG095321.
InParanoidiQ8TDN2.
KOiK04935.
OMAiFQLIYNF.
OrthoDBiEOG091G0FP3.
PhylomeDBiQ8TDN2.
TreeFamiTF313103.

Family and domain databases

Gene3Di1.20.120.350. 1 hit.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR003968. K_chnl_volt-dep_Kv.
IPR003971. K_chnl_volt-dep_Kv9.
IPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERiPTHR11537. PTHR11537. 2 hits.
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_027632126L → Q in RCD3B. 1 Publication1
Natural variantiVAR_027633188W → C in RCD3B. 1 PublicationCorresponds to variant rs772921412dbSNPEnsembl.1
Natural variantiVAR_027634256S → W in RCD3B. 1 PublicationCorresponds to variant rs104894116dbSNPEnsembl.1
Natural variantiVAR_027635259A → V in RCD3B. 1 Publication1
Natural variantiVAR_027636339 – 341Missing in RCD3B. 1 Publication3
Natural variantiVAR_027637459G → D in RCD3B. 1 PublicationCorresponds to variant rs104894115dbSNPEnsembl.1
Natural variantiVAR_027638533L → V.1 PublicationCorresponds to variant rs12352254dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ8TDN2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127982. 6 interactors.
IntActiQ8TDN2. 1 interactor.
STRINGi9606.ENSP00000371514.

Chemistry databases

ChEMBLiCHEMBL2362996.

PTM databases

iPTMnetiQ8TDN2.
PhosphoSitePlusiQ8TDN2.

Polymorphism and mutation databases

BioMutaiKCNV2.
DMDMi26006804.

Proteomic databases

PaxDbiQ8TDN2.
PeptideAtlasiQ8TDN2.
PRIDEiQ8TDN2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382082; ENSP00000371514; ENSG00000168263.
GeneIDi169522.
KEGGihsa:169522.
UCSCiuc003zho.3. human.

Organism-specific databases

CTDi169522.
DisGeNETi169522.
GeneCardsiKCNV2.
H-InvDBHIX0035118.
HGNCiHGNC:19698. KCNV2.
HPAiHPA031131.
MalaCardsiKCNV2.
MIMi607604. gene.
610356. phenotype.
neXtProtiNX_Q8TDN2.
OpenTargetsiENSG00000168263.
Orphaneti209932. Cone dystrophy with supernormal rod response.
PharmGKBiPA134992655.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3713. Eukaryota.
COG1226. LUCA.
GeneTreeiENSGT00760000118981.
HOGENOMiHOG000231016.
HOVERGENiHBG095321.
InParanoidiQ8TDN2.
KOiK04935.
OMAiFQLIYNF.
OrthoDBiEOG091G0FP3.
PhylomeDBiQ8TDN2.
TreeFamiTF313103.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168263-MONOMER.
ReactomeiR-HSA-1296072. Voltage gated Potassium channels.

Miscellaneous databases

GeneWikiiKCNV2.
GenomeRNAii169522.
PROiQ8TDN2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168263.
CleanExiHS_KCNV2.
GenevisibleiQ8TDN2. HS.

Family and domain databases

Gene3Di1.20.120.350. 1 hit.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR003968. K_chnl_volt-dep_Kv.
IPR003971. K_chnl_volt-dep_Kv9.
IPR011333. SKP1/BTB/POZ.
IPR003131. T1-type_BTB.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERiPTHR11537. PTHR11537. 2 hits.
PfamiPF02214. BTB_2. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
PRINTSiPR00169. KCHANNEL.
PR01494. KV9CHANNEL.
PR01491. KVCHANNEL.
SUPFAMiSSF54695. SSF54695. 1 hit.
ProtoNetiSearch...

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: November 30, 2016
This is version 132 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.