We will be switching to the new UniProt website on Tuesday, June 28. Please explore and share your feedback.
Take me to UniProt BETA
UniProtKB - Q8TDN2 (KCNV2_HUMAN)
Protein
Potassium voltage-gated channel subfamily V member 2
Gene
KCNV2
Organism
Homo sapiens (Human)
Status
Functioni
Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.
GO - Molecular functioni
- voltage-gated potassium channel activity Source: GO_Central
GO - Biological processi
- potassium ion transmembrane transport Source: GO_Central
- protein homooligomerization Source: InterPro
- regulation of ion transmembrane transport Source: UniProtKB-KW
Keywordsi
Molecular function | Ion channel, Potassium channel, Voltage-gated channel |
Biological process | Ion transport, Potassium transport, Transport |
Ligand | Potassium |
Enzyme and pathway databases
PathwayCommonsi | Q8TDN2 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels |
SignaLinki | Q8TDN2 |
Protein family/group databases
TCDBi | 1.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 2Alternative name(s): Voltage-gated potassium channel subunit Kv8.2 |
Gene namesi | Name:KCNV2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19698, KCNV2 |
MIMi | 607604, gene |
neXtProti | NX_Q8TDN2 |
VEuPathDBi | HostDB:ENSG00000168263 |
Subcellular locationi
Plasma membrane
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.
Plasma Membrane
- plasma membrane Source: Reactome
- voltage-gated potassium channel complex Source: GO_Central
Other locations
- integral component of membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 155 | CytoplasmicSequence analysisAdd BLAST | 155 | |
Transmembranei | 156 – 176 | Helical; Name=Segment S1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 177 – 261 | ExtracellularSequence analysisAdd BLAST | 85 | |
Transmembranei | 262 – 282 | Helical; Name=Segment S2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 283 – 336 | CytoplasmicSequence analysisAdd BLAST | 54 | |
Transmembranei | 337 – 357 | Helical; Name=Segment S3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 358 – 374 | ExtracellularSequence analysisAdd BLAST | 17 | |
Transmembranei | 375 – 395 | Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 396 – 410 | CytoplasmicSequence analysisAdd BLAST | 15 | |
Transmembranei | 411 – 431 | Helical; Name=Segment S5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 432 – 444 | ExtracellularSequence analysisAdd BLAST | 13 | |
Intramembranei | 445 – 465 | Pore-forming; Name=Segment H5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 466 – 471 | ExtracellularSequence analysis | 6 | |
Transmembranei | 472 – 492 | Helical; Name=Segment S6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 493 – 545 | CytoplasmicSequence analysisAdd BLAST | 53 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Cone dystrophy retinal 3B (RCD3B)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027632 | 126 | L → Q in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs776275880Ensembl. | 1 | |
Natural variantiVAR_027633 | 188 | W → C in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs772921412Ensembl. | 1 | |
Natural variantiVAR_027634 | 256 | S → W in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs104894116EnsemblClinVar. | 1 | |
Natural variantiVAR_027635 | 259 | A → V in RCD3B. 1 Publication | 1 | |
Natural variantiVAR_027636 | 339 – 341 | Missing in RCD3B. 1 Publication | 3 | |
Natural variantiVAR_027637 | 459 | G → D in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs104894115EnsemblClinVar. | 1 |
Keywords - Diseasei
Cone-rod dystrophy, Disease variantOrganism-specific databases
DisGeNETi | 169522 |
MalaCardsi | KCNV2 |
MIMi | 610356, phenotype |
OpenTargetsi | ENSG00000168263 |
Orphaneti | 209932, Cone dystrophy with supernormal rod response |
PharmGKBi | PA134992655 |
Miscellaneous databases
Pharosi | Q8TDN2, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2362996 |
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | Q8TDN2 |
Genetic variation databases
BioMutai | KCNV2 |
DMDMi | 26006804 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000054094 | 1 – 545 | Potassium voltage-gated channel subfamily V member 2Add BLAST | 545 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 440 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
MassIVEi | Q8TDN2 |
PaxDbi | Q8TDN2 |
PeptideAtlasi | Q8TDN2 |
PRIDEi | Q8TDN2 |
ProteomicsDBi | 74309 |
PTM databases
GlyGeni | Q8TDN2, 1 site |
iPTMneti | Q8TDN2 |
PhosphoSitePlusi | Q8TDN2 |
Expressioni
Tissue specificityi
Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon.1 Publication
Gene expression databases
Bgeei | ENSG00000168263, Expressed in sperm and 35 other tissues |
Genevisiblei | Q8TDN2, HS |
Organism-specific databases
HPAi | ENSG00000168263, Tissue enriched (retina) |
Interactioni
Subunit structurei
Heteromultimer with KCNB1, KCNC1 and KCNF1. Does not form homomultimers.
1 PublicationBinary interactionsi
Q8TDN2
With | #Exp. | IntAct |
---|---|---|
ANKRD28 [O15084] | 3 | EBI-12014650,EBI-359567 |
Protein-protein interaction databases
BioGRIDi | 127982, 15 interactors |
IntActi | Q8TDN2, 4 interactors |
STRINGi | 9606.ENSP00000371514 |
Miscellaneous databases
RNActi | Q8TDN2, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 74 – 93 | DisorderedSequence analysisAdd BLAST | 20 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 457 – 462 | Selectivity filterBy similarity | 6 |
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
Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily. [View classification]Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3713, Eukaryota |
GeneTreei | ENSGT00940000157438 |
HOGENOMi | CLU_011722_4_1_1 |
InParanoidi | Q8TDN2 |
OMAi | HMRYYGP |
OrthoDBi | 818306at2759 |
PhylomeDBi | Q8TDN2 |
TreeFami | TF313103 |
Family and domain databases
Gene3Di | 1.20.120.350, 1 hit 3.30.710.10, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR11537, PTHR11537, 1 hit |
Pfami | View protein in Pfam PF02214, BTB_2, 1 hit PF00520, Ion_trans, 1 hit |
PRINTSi | PR01494, KV9CHANNEL PR01491, KVCHANNEL |
SUPFAMi | SSF54695, SSF54695, 1 hit |
i Sequence
Sequence statusi: Complete.
Q8TDN2-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027632 | 126 | L → Q in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs776275880Ensembl. | 1 | |
Natural variantiVAR_027633 | 188 | W → C in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs772921412Ensembl. | 1 | |
Natural variantiVAR_027634 | 256 | S → W in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs104894116EnsemblClinVar. | 1 | |
Natural variantiVAR_027635 | 259 | A → V in RCD3B. 1 Publication | 1 | |
Natural variantiVAR_027636 | 339 – 341 | Missing in RCD3B. 1 Publication | 3 | |
Natural variantiVAR_027637 | 459 | G → D in RCD3B. 1 PublicationCorresponds to variant dbSNP:rs104894115EnsemblClinVar. | 1 | |
Natural variantiVAR_027638 | 533 | L → V1 PublicationCorresponds to variant dbSNP:rs12352254EnsemblClinVar. | 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 |
CCDSi | CCDS6447.1 |
RefSeqi | NP_598004.1, NM_133497.3 |
Genome annotation databases
Ensembli | ENST00000382082.4; ENSP00000371514.3; ENSG00000168263.9 |
GeneIDi | 169522 |
KEGGi | hsa:169522 |
MANE-Selecti | ENST00000382082.4; ENSP00000371514.3; NM_133497.4; NP_598004.1 |
UCSCi | uc003zho.3, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS6447.1 |
RefSeqi | NP_598004.1, NM_133497.3 |
3D structure databases
AlphaFoldDBi | Q8TDN2 |
SMRi | Q8TDN2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127982, 15 interactors |
IntActi | Q8TDN2, 4 interactors |
STRINGi | 9606.ENSP00000371514 |
Chemistry databases
ChEMBLi | CHEMBL2362996 |
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
DrugCentrali | Q8TDN2 |
Protein family/group databases
TCDBi | 1.A.1.2.23, the voltage-gated ion channel (vic) superfamily 1.A.1.2.24, the voltage-gated ion channel (vic) superfamily |
PTM databases
GlyGeni | Q8TDN2, 1 site |
iPTMneti | Q8TDN2 |
PhosphoSitePlusi | Q8TDN2 |
Genetic variation databases
BioMutai | KCNV2 |
DMDMi | 26006804 |
Proteomic databases
MassIVEi | Q8TDN2 |
PaxDbi | Q8TDN2 |
PeptideAtlasi | Q8TDN2 |
PRIDEi | Q8TDN2 |
ProteomicsDBi | 74309 |
Protocols and materials databases
Antibodypediai | 23918, 213 antibodies from 25 providers |
DNASUi | 169522 |
Genome annotation databases
Ensembli | ENST00000382082.4; ENSP00000371514.3; ENSG00000168263.9 |
GeneIDi | 169522 |
KEGGi | hsa:169522 |
MANE-Selecti | ENST00000382082.4; ENSP00000371514.3; NM_133497.4; NP_598004.1 |
UCSCi | uc003zho.3, human |
Organism-specific databases
CTDi | 169522 |
DisGeNETi | 169522 |
GeneCardsi | KCNV2 |
HGNCi | HGNC:19698, KCNV2 |
HPAi | ENSG00000168263, Tissue enriched (retina) |
MalaCardsi | KCNV2 |
MIMi | 607604, gene 610356, phenotype |
neXtProti | NX_Q8TDN2 |
OpenTargetsi | ENSG00000168263 |
Orphaneti | 209932, Cone dystrophy with supernormal rod response |
PharmGKBi | PA134992655 |
VEuPathDBi | HostDB:ENSG00000168263 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3713, Eukaryota |
GeneTreei | ENSGT00940000157438 |
HOGENOMi | CLU_011722_4_1_1 |
InParanoidi | Q8TDN2 |
OMAi | HMRYYGP |
OrthoDBi | 818306at2759 |
PhylomeDBi | Q8TDN2 |
TreeFami | TF313103 |
Enzyme and pathway databases
PathwayCommonsi | Q8TDN2 |
Reactomei | R-HSA-1296072, Voltage gated Potassium channels |
SignaLinki | Q8TDN2 |
Miscellaneous databases
BioGRID-ORCSi | 169522, 12 hits in 1061 CRISPR screens |
ChiTaRSi | KCNV2, human |
GeneWikii | KCNV2 |
GenomeRNAii | 169522 |
Pharosi | Q8TDN2, Tclin |
PROi | PR:Q8TDN2 |
RNActi | Q8TDN2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000168263, Expressed in sperm and 35 other tissues |
Genevisiblei | Q8TDN2, HS |
Family and domain databases
Gene3Di | 1.20.120.350, 1 hit 3.30.710.10, 1 hit |
InterProi | View 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 |
PANTHERi | PTHR11537, PTHR11537, 1 hit |
Pfami | View protein in Pfam PF02214, BTB_2, 1 hit PF00520, Ion_trans, 1 hit |
PRINTSi | PR01494, KV9CHANNEL PR01491, KVCHANNEL |
SUPFAMi | SSF54695, SSF54695, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | KCNV2_HUMAN | |
Accessioni | Q8TDN2Primary (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: | May 25, 2022 | |
This is version 165 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families