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Protein

Potassium voltage-gated channel subfamily V member 2

Gene

KCNV2

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

Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

ReactomeiR-HSA-1296072 Voltage gated Potassium channels

Protein family/group databases

TCDBi1.A.1.2.23 the voltage-gated ion channel (vic) superfamily
1.A.1.2.24 the voltage-gated ion channel (vic) superfamily

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

EuPathDBiHostDB:ENSG00000168263.8
HGNCiHGNC:19698 KCNV2
MIMi607604 gene
neXtProtiNX_Q8TDN2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 PublicationCorresponds to variant dbSNP:rs776275880Ensembl.1
Natural variantiVAR_027633188W → C in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs772921412Ensembl.1
Natural variantiVAR_027634256S → W in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs104894116Ensembl.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 dbSNP:rs104894115Ensembl.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...) asparagineSequence 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

BioGridi1279826 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
OMAiSIPHAWW
OrthoDBiEOG091G0FP3
PhylomeDBiQ8TDN2
TreeFamiTF313103

Family and domain databases

Gene3Di1.20.120.3501 hit
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR003968 K_chnl_volt-dep_Kv
IPR003971 K_chnl_volt-dep_Kv9
IPR011333 SKP1/BTB/POZ_sf
IPR003131 T1-type_BTB
IPR028325 VG_K_chnl
IPR027359 Volt_channel_dom_sf
PANTHERiPTHR11537 PTHR11537, 1 hit
PfamiView protein in Pfam
PF02214 BTB_2, 1 hit
PF00520 Ion_trans, 1 hit
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 PublicationCorresponds to variant dbSNP:rs776275880Ensembl.1
Natural variantiVAR_027633188W → C in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs772921412Ensembl.1
Natural variantiVAR_027634256S → W in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs104894116Ensembl.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 dbSNP:rs104894115Ensembl.1
Natural variantiVAR_027638533L → V1 PublicationCorresponds to variant dbSNP:rs12352254Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF348983 mRNA Translation: AAL83910.1
AL354723 Genomic DNA No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiKCNV2_HUMAN
AccessioniPrimary (citable) accession number: Q8TDN2
Secondary accession number(s): Q5T6X0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: June 1, 2002
Last modified: February 28, 2018
This is version 142 of the entry and version 1 of the sequence. See 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