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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	169522
Gene name	Potassium voltage-gated channel modifier subfamily V member 2
Gene symbol	KCNV2
Synonyms (NCBI Gene)	KV11.1Kv8.2RCD3B
Chromosome	9
Chromosome location	9p24.2
Summary	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

Show/Hide all (23)

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

Show/Hide all (1)

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

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 34535971
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
607604	19698	ENSG00000168263

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

237

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs149648640	RCV001270117
Cone dystrophy	Pathogenic; Likely pathogenic	rs139027297, rs138924201, rs748084580	RCV003324523 RCV001199694 RCV001199696
cone dystrophy with supernormal rod electroretinogram	Pathogenic; Likely pathogenic	rs1586686845, rs1586686896, rs1586687216, rs1586687247, rs754275640, rs986350598, rs1586692857	RCV001003061 RCV001003062 RCV001003063 RCV001003064 RCV001003066 RCV001003067 RCV001003068
Cone dystrophy with supernormal rod response	Likely pathogenic; Pathogenic	rs950492553, rs1486482604, rs768486552, rs760755040, rs1478587308, rs104894113, rs200148749, rs1819768982, rs149648640, rs387907302, rs786205121, rs140256288, rs1402837406, rs754275640, rs986350598, rs748280472, rs202036979 View all (2 more)	RCV001327982 RCV001352978 RCV001542671 RCV001782330 RCV004798934 RCV000003146 RCV005356165 RCV003990858 RCV000030809 RCV000030811 RCV000033031 RCV000033032 RCV000030810 RCV005629858 RCV006249699 RCV001542670 RCV001376514
KCNV2-related disorder	Likely pathogenic; Pathogenic	rs104894113, rs977790637, rs149648640, rs140256288	RCV004751194 RCV003409714 RCV003430644 RCV004751233
Nystagmus	Likely pathogenic; Pathogenic	rs149648640	RCV001270117
Progressive cone dystrophy (without rod involvement)	Pathogenic	rs1402837406	RCV000787846
Retinal dystrophy	Pathogenic; Likely pathogenic	rs139027297, rs977790637, rs1554628460, rs149648640, rs786205121, rs140256288, rs778977288, rs748084580, rs202036979, rs141099767, rs1819778559, rs751600925, rs763785730, rs1819787095, rs754275640 View all (3 more)	RCV004816466 RCV000504647 RCV000504999 RCV001075668 RCV000504838 RCV004814934 RCV001075336 RCV004818167 RCV001075580 RCV001074729 RCV001075320 RCV001074332 RCV001073734 RCV001073644 RCV001074484 RCV001075321 RCV004813756 RCV004813892
Stargardt disease	Pathogenic	rs1402837406	RCV000787847

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cone dystrophy 3	Conflicting classifications of pathogenicity	rs145731729	RCV000988139
Cone-rod dystrophy 6	Uncertain significance	rs1819796278	RCV001271077
Optic atrophy	Uncertain significance	rs756949524, rs146685593	RCV004816863 RCV004816256
Thyroid cancer, nonmedullary, 1	Likely benign	rs10967705	RCV005928347

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)