Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	169522
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium voltage-gated channel modifier subfamily V member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNV2
Synonyms (NCBI Gene) Gene synonyms aliases	KV11.1, Kv8.2, RCD3B
Disease Acronyms (UniProt) Disease acronyms from UniProt database	RCD3B
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9p24.2
Summary Summary of gene provided in NCBI Entrez Gene.	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894113	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894114	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894115	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894116	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs139027297	A>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs140256288	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs149648640	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs201975160	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs387907302	C>T	Pathogenic	Stop gained, coding sequence variant
rs397514604	T>C	Pathogenic	Missense variant, coding sequence variant
rs754275640	C>T	Pathogenic	Coding sequence variant, missense variant
rs755071813	C>A	Pathogenic	Coding sequence variant, missense variant
rs786205064	ACCTGGTGG>-,ACCTGGTGGACCTGGTGG	Pathogenic	Coding sequence variant, inframe insertion, inframe deletion
rs786205121	AACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs977790637	T>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs986350598	GC>-,GCGC	Pathogenic	Coding sequence variant, frameshift variant
rs1402837406	CC>-,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs1554628460	->GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1586686845	CCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1586686896	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1586687216	AGCGGC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1586687247	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1586692857	G>C	Likely-pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT2252260	hsa-miR-377	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005249	Function	Voltage-gated potassium channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0008076	Component	Voltage-gated potassium channel complex	IBA	21873635
GO:0016021	Component	Integral component of membrane	IBA	21873635
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA	21873635

MIM	HGNC	e!Ensembl
607604	19698	ENSG00000168263

Protein

UniProt ID

Q8TDN2

Protein name

Potassium voltage-gated channel subfamily V member 2 (Voltage-gated potassium channel subunit Kv8.2)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	99 → 198	BTB/POZ domain	Domain
PF00520	Ion_trans	262 → 504	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon. {ECO:0000269|PubMed:12060745}.

Sequence

MLKQSERRRSWSYRPWNTTENEGSQHRRSICSLGARSGSQASIHGWTEGNYNYYIEEDED
GEEEDQWKDDLAEEDQQAGEVTTAKPEGPSDPPALLSTLNVNVGGHSYQLDYCELAGFPK
TRLGRLATSTSRSRQLSLCDDYEEQTDEYFFDRDPAVFQLVYNFYLSGVLLVLDGLCPRR
FLEELGYWGVRLKYTPRCCRICFEERRDELSERLKIQHELRAQAQVEEAEELFRDMRFYG
PQRRRLWNLMEKPFSSVAAKAIGVASSTFVLVSVVALALNTVEEMQQHSGQGEGGPDLRP
ILEHVEMLCMGFFTLEYLLRLASTPDLRRFARSALNLVDLVAILPLYLQLLLECFTGEGH
QRGQTVGSVGKVGQVLRVMRLMRIFRILKLARHSTGLRAFGFTLRQCYQQVGCLLLFIAM
GIFTFSAAVYSVEHDVPSTNFTTIPHSWWWAAVSISTVGYGDMYPETHLGRFFAFLCIAF
GIILNGMPISILYNKFSDYYSKLKAYEYTTIRRERGEVNFMQRARKKIAECLLGSNPQLT
PRQEN

Sequence length

545

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Cone dystrophy	CONE DYSTROPHY 3 (disorder)	rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709 View all (28 more)
Cone dystrophy with supernormal rod response	Cone dystrophy with supernormal rod response	rs104894113, rs104894114, rs104894115, rs104894116, rs149648640, rs387907302, rs786205121, rs140256288, rs1402837406, rs1586686845, rs1586686896, rs1586687216, rs1586687247, rs754275640, rs986350598 View all (3 more)
Cone-rod dystrophy	Cone-Rod Dystrophies	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209 View all (207 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Progressive cone dystrophy	Progressive cone dystrophy (without rod involvement)	rs61750173, rs61755783, rs764759172, rs1557106557, rs1306231185, rs536742386, rs1402837406, rs781339303	30718709
Retinal cone dystrophy	Retinal Cone Dystrophy 3B	rs200311463	18235024, 21911584, 16909397, 23885164, 21882291, 23115240, 18400204
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803 View all (2328 more)	21882291
Stargardt disease	STARGARDT DISEASE 1 (disorder)	rs779886453, rs121918284, rs1131690770, rs587776613, rs104893946, rs137853006, rs61751408, rs61750061, rs61753034, rs61751374, rs61750200, rs121909205, rs61750130, rs61752410, rs61753033 View all (126 more)	30718709

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Retinal Dystrophy	inherited retinal dystrophy			GenCC

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
Breast Neoplasms	Associate	34147842
Color Vision Defects	Associate	33309813, 37121194
Cone Dystrophy	Associate	21882291, 26957898
Cone Rod Dystrophies	Associate	16909397, 20554613, 23221069, 26957898
Hypertensive Retinopathy	Associate	23077521, 23885164, 30927187, 33309813, 33372566, 33737031, 38454848
Long QT Syndrome	Associate	25417810
Long Qt Syndrome 2	Associate	25417810
Metabolic Syndrome	Associate	31405227
Photophobia	Associate	38454848
Retinal Cone Dystrophy 3A	Associate	21882291, 23885164, 33372566, 33960280, 34535971, 37121194, 38454848
Retinal Diseases	Associate	33309813, 36161854
Retinal Dystrophies	Associate	37127645, 38454848
Retinitis	Associate	23077521
Sleep Deprivation	Associate	23440187
Vision Disorders	Associate	23221069, 33309813
Vision Low	Associate	38454848

KCNV2 (potassium voltage-gated channel modifier subfamily V member 2)