Q8TDN2 (KCNV2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Potassium voltage-gated channel subfamily V member 2

Alternative name(s):
Voltage-gated potassium channel subunit Kv8.2

Gene names

Name:

KCNV2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	545 AA.
Sequence status	Complete.
Protein existence	Evidence 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]

Ontologies

Keywords
Biological process	Ion transport Potassium transport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Cone-rod dystrophy Disease mutation
Domain	Transmembrane Transmembrane helix
Ligand	Potassium
Molecular function	Ion channel Potassium channel Voltage-gated channel
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein homooligomerization Inferred from electronic annotation. Source: InterPro synaptic transmission Traceable author statement. Source: Reactome
Cellular_component	plasma membrane Traceable author statement. Source: Reactome voltage-gated potassium channel complex Inferred from electronic annotation. Source: InterPro
Molecular_function	delayed rectifier potassium channel activity Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 545	545	Potassium voltage-gated channel subfamily V member 2		PRO_0000054094
Regions
	Topological domain	1 – 155	155	Cytoplasmic Potential
	Transmembrane	156 – 176	21	Helical; Name=Segment S1; Potential
	Topological domain	177 – 261	85	Extracellular Potential
	Transmembrane	262 – 282	21	Helical; Name=Segment S2; Potential
	Topological domain	283 – 336	54	Cytoplasmic Potential
	Transmembrane	337 – 357	21	Helical; Name=Segment S3; Potential
	Topological domain	358 – 374	17	Extracellular Potential
	Transmembrane	375 – 395	21	Helical; Voltage-sensor; Name=Segment S4; Potential
	Topological domain	396 – 410	15	Cytoplasmic Potential
	Transmembrane	411 – 431	21	Helical; Name=Segment S5; Potential
	Topological domain	432 – 444	13	Extracellular Potential
	Intramembrane	445 – 465	21	Pore-forming; Name=Segment H5; Potential
	Topological domain	466 – 471	6	Extracellular Potential
	Transmembrane	472 – 492	21	Helical; Name=Segment S6; Potential
	Topological domain	493 – 545	53	Cytoplasmic Potential
	Motif	457 – 462	6	Selectivity filter By similarity
Amino acid modifications
	Glycosylation	440	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	126	1	L → Q in RCD3B. Ref.4		VAR_027632
	Natural variant	188	1	W → C in RCD3B. Ref.4		VAR_027633
	Natural variant	256	1	S → W in RCD3B. Ref.4		VAR_027634
	Natural variant	259	1	A → V in RCD3B. Ref.4		VAR_027635
	Natural variant	339 – 341	3	Missing in RCD3B.		VAR_027636
	Natural variant	459	1	G → D in RCD3B. Ref.4		VAR_027637
	Natural variant	533	1	L → V. Ref.4 Corresponds to variant rs12352254 [ dbSNP | Ensembl ].		VAR_027638

Sequences

	Sequence		Length	Mass (Da)
	Q8TDN2 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: 72D175B4C0C6B1DA	FASTA	545	62,459
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00152566.
RefSeq	NP_598004.1. NM_133497.3.
UniGene	Hs.622675. Hs.624689. Hs.740173.
3D structure databases
ProteinModelPortal	Q8TDN2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000371514.
PTM databases
PhosphoSite	Q8TDN2.
Polymorphism databases
DMDM	26006804.
Proteomic databases
PaxDb	Q8TDN2.
PRIDE	Q8TDN2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382082; ENSP00000371514; ENSG00000168263.
GeneID	169522.
KEGG	hsa:169522.
UCSC	uc003zho.2. human.
Organism-specific databases
CTD	169522.
GeneCards	GC09P002705.
H-InvDB	HIX0035118.
HGNC	HGNC:19698. KCNV2.
HPA	HPA031131.
MIM	607604. gene. 610356. phenotype.
neXtProt	NX_Q8TDN2.
Orphanet	209932. Cone dystrophy with supernormal rod response.
PharmGKB	PA134992655.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1226.
HOGENOM	HOG000231016.
HOVERGEN	HBG095321.
InParanoid	Q8TDN2.
KO	K04935.
OMA	WGVRLKY.
OrthoDB	EOG418BNG.
PhylomeDB	Q8TDN2.
Enzyme and pathway databases
Reactome	REACT_13685. Neuronal System.
Gene expression databases
Bgee	Q8TDN2.
CleanEx	HS_KCNV2.
Genevestigator	Q8TDN2.
GermOnline	ENSG00000168263. Homo sapiens.
Family and domain databases
Gene3D	3.30.710.10. 1 hit.
InterPro	IPR011333. BTB/POZ_fold. IPR005821. Ion_trans_dom. IPR003091. K_chnl. IPR003968. K_chnl_volt-dep_Kv. IPR003971. K_chnl_volt-dep_Kv9. IPR003131. T1-type_BTB. [Graphical view]
PANTHER	PTHR11537. PTHR11537. 1 hit.
Pfam	PF00520. Ion_trans. 1 hit. PF02214. K_tetra. 1 hit. [Graphical view]
PRINTS	PR00169. KCHANNEL. PR01494. KV9CHANNEL. PR01491. KVCHANNEL.
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	169522.
NextBio	88815.
SOURCE	Search...

Entry information

Entry name

KCNV2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 100 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.