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Q8TDN2 (KCNV2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Potassium voltage-gated channel subfamily V member 2
Alternative name(s):
Voltage-gated potassium channel subunit Kv8.2
Gene names
Name:KCNV2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length545 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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

Subcellular location

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.

Tissue specificity

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

Domain

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 545545Potassium voltage-gated channel subfamily V member 2
PRO_0000054094

Regions

Topological domain1 – 155155Cytoplasmic Potential
Transmembrane156 – 17621Helical; Name=Segment S1; Potential
Topological domain177 – 26185Extracellular Potential
Transmembrane262 – 28221Helical; Name=Segment S2; Potential
Topological domain283 – 33654Cytoplasmic Potential
Transmembrane337 – 35721Helical; Name=Segment S3; Potential
Topological domain358 – 37417Extracellular Potential
Transmembrane375 – 39521Helical; Voltage-sensor; Name=Segment S4; Potential
Topological domain396 – 41015Cytoplasmic Potential
Transmembrane411 – 43121Helical; Name=Segment S5; Potential
Topological domain432 – 44413Extracellular Potential
Intramembrane445 – 46521Pore-forming; Name=Segment H5; Potential
Topological domain466 – 4716Extracellular Potential
Transmembrane472 – 49221Helical; Name=Segment S6; Potential
Topological domain493 – 54553Cytoplasmic Potential
Motif457 – 4626Selectivity filter By similarity

Amino acid modifications

Glycosylation4401N-linked (GlcNAc...) Potential

Natural variations

Natural variant1261L → Q in RCD3B. Ref.4
VAR_027632
Natural variant1881W → C in RCD3B. Ref.4
VAR_027633
Natural variant2561S → W in RCD3B. Ref.4
VAR_027634
Natural variant2591A → V in RCD3B. Ref.4
VAR_027635
Natural variant339 – 3413Missing in RCD3B.
VAR_027636
Natural variant4591G → D in RCD3B. Ref.4
VAR_027637
Natural variant5331L → V. Ref.4
Corresponds to variant rs12352254 [ dbSNP | Ensembl ].
VAR_027638

Sequences

Sequence LengthMass (Da)Tools
Q8TDN2 [UniParc].

Last modified June 1, 2002. Version 1.
Checksum: 72D175B4C0C6B1DA

FASTA54562,459
        10         20         30         40         50         60 
MLKQSERRRS WSYRPWNTTE NEGSQHRRSI CSLGARSGSQ ASIHGWTEGN YNYYIEEDED 

        70         80         90        100        110        120 
GEEEDQWKDD LAEEDQQAGE VTTAKPEGPS DPPALLSTLN VNVGGHSYQL DYCELAGFPK 

       130        140        150        160        170        180 
TRLGRLATST SRSRQLSLCD DYEEQTDEYF FDRDPAVFQL VYNFYLSGVL LVLDGLCPRR 

       190        200        210        220        230        240 
FLEELGYWGV RLKYTPRCCR ICFEERRDEL SERLKIQHEL RAQAQVEEAE ELFRDMRFYG 

       250        260        270        280        290        300 
PQRRRLWNLM EKPFSSVAAK AIGVASSTFV LVSVVALALN TVEEMQQHSG QGEGGPDLRP 

       310        320        330        340        350        360 
ILEHVEMLCM GFFTLEYLLR LASTPDLRRF ARSALNLVDL VAILPLYLQL LLECFTGEGH 

       370        380        390        400        410        420 
QRGQTVGSVG KVGQVLRVMR LMRIFRILKL ARHSTGLRAF GFTLRQCYQQ VGCLLLFIAM 

       430        440        450        460        470        480 
GIFTFSAAVY SVEHDVPSTN FTTIPHSWWW AAVSISTVGY GDMYPETHLG RFFAFLCIAF 

       490        500        510        520        530        540 
GIILNGMPIS ILYNKFSDYY SKLKAYEYTT IRRERGEVNF MQRARKKIAE CLLGSNPQLT 


PRQEN 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF348983 mRNA. Translation: AAL83910.1.
AL354723 Genomic DNA. Translation: CAI15124.1.
BC101352 mRNA. Translation: AAI01353.1.
BC101353 mRNA. Translation: AAI01354.1.
RefSeqNP_598004.1. NM_133497.3.
UniGeneHs.622675.
Hs.624689.
Hs.740173.

3D structure databases

ProteinModelPortalQ8TDN2.
SMRQ8TDN2. Positions 101-531.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127982. 3 interactions.
STRING9606.ENSP00000371514.

Chemistry

ChEMBLCHEMBL2362996.

PTM databases

PhosphoSiteQ8TDN2.

Polymorphism databases

DMDM26006804.

Proteomic databases

PaxDbQ8TDN2.
PRIDEQ8TDN2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382082; ENSP00000371514; ENSG00000168263.
GeneID169522.
KEGGhsa:169522.
UCSCuc003zho.2. human.

Organism-specific databases

CTD169522.
GeneCardsGC09P002705.
H-InvDBHIX0035118.
HGNCHGNC:19698. KCNV2.
HPAHPA031131.
MIM607604. gene.
610356. phenotype.
neXtProtNX_Q8TDN2.
Orphanet209932. Cone dystrophy with supernormal rod response.
PharmGKBPA134992655.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1226.
HOGENOMHOG000231016.
HOVERGENHBG095321.
InParanoidQ8TDN2.
KOK04935.
OMAEELGYWG.
OrthoDBEOG7CRTPP.
PhylomeDBQ8TDN2.
TreeFamTF313103.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

BgeeQ8TDN2.
CleanExHS_KCNV2.
GenevestigatorQ8TDN2.

Family and domain databases

Gene3D1.20.120.350. 1 hit.
3.30.710.10. 1 hit.
InterProIPR011333. 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]
PANTHERPTHR11537. PTHR11537. 1 hit.
PfamPF02214. BTB_2. 1 hit.
PF00520. Ion_trans. 1 hit.
[Graphical view]
PRINTSPR00169. KCHANNEL.
PR01494. KV9CHANNEL.
PR01491. KVCHANNEL.
SUPFAMSSF54695. SSF54695. 1 hit.
ProtoNetSearch...

Other

GeneWikiKCNV2.
GenomeRNAi169522.
NextBio88815.
PROQ8TDN2.
SOURCESearch...

Entry information

Entry nameKCNV2_HUMAN
AccessionPrimary (citable) accession number: Q8TDN2
Secondary accession number(s): Q5T6X0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: June 1, 2002
Last modified: March 19, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM