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

Gene

• Entrez ID: 169522
• Gene name: Potassium voltage-gated channel modifier subfamily V member 2
• Gene symbol: KCNV2
• Synonyms (NCBI Gene): KV11.1, Kv8.2, RCD3B
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 607604
• HGNC: 19698
• e!Ensembl: 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

Pathways

Reactome:

Voltage gated Potassium channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs149648640	RCV001270117	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Pathogenic; Likely pathogenic	rs139027297, rs138924201, rs748084580	RCV003324523 RCV001199694 RCV001199696	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
cone dystrophy with supernormal rod electroretinogram	Pathogenic; Likely pathogenic	rs1586686845, rs1586686896, rs1586687216, rs1586687247, rs754275640, rs986350598, rs1586692857	RCV001003061 RCV001003062 RCV001003063 RCV001003064 RCV001003066 RCV001003067 RCV001003068	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	RCV001327982 RCV001352978 RCV001542671 RCV001782330 RCV004798934 RCV000003146 RCV005356165 RCV003990858 RCV000030809 RCV000030811 RCV000033031 RCV000033032 RCV000030810 RCV005629858 RCV006249699 RCV001542670 RCV001376514	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KCNV2-related disorder	Likely pathogenic; Pathogenic	rs104894113, rs977790637, rs149648640, rs140256288	RCV004751194 RCV003409714 RCV003430644 RCV004751233	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Likely pathogenic; Pathogenic	rs149648640	RCV001270117	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive cone dystrophy (without rod involvement)	Pathogenic	rs1402837406	RCV000787846	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs139027297, rs977790637, rs1554628460, rs149648640, rs786205121, rs140256288, rs778977288, rs748084580, rs202036979, rs141099767, rs1819778559, rs751600925, rs763785730, rs1819787095, rs754275640, rs1819797791, rs1819778622, rs1385132304	RCV004816466 RCV000504647 RCV000504999 RCV001075668 RCV000504838 RCV004814934 RCV001075336 RCV004818167 RCV001075580 RCV001074729 RCV001075320 RCV001074332 RCV001073734 RCV001073644 RCV001074484 RCV001075321 RCV004813756 RCV004813892	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stargardt disease	Pathogenic	rs1402837406	RCV000787847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone dystrophy 3	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy 6	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROGRESSIVE CONE DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL CONE DYSTROPHY 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL CONE DYSTROPHY 3B	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STARGARDTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34147842	Associate	★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	33309813, 37121194	Associate	★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	BEFREE	17896311, 18400204, 21911584, 24210337		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone Dystrophy	Cone dystrophy	Pubtator	21882291, 26957898	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CONE DYSTROPHY 3 (disorder)	Cone Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cone dystrophy with supernormal rod response	Cone Dystrophy With Supernormal Rod Response	BEFREE	16909397, 18235024, 18400204, 21882291, 23115240, 23143909, 23221069, 23725738		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone dystrophy with supernormal rod response	Cone Dystrophy With Supernormal Rod Response	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	23563732		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	23143909		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	21402906		★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	25417810	Associate	★☆☆☆☆ Found in Text Mining only
Long Qt Syndrome 2	Long qt syndrome	Pubtator	25417810	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	31405227	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cone dystrophy (without rod involvement)	Progressive Cone Dystrophy	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Cone Dystrophy 3A	Retinal cone dystrophy	Pubtator	21882291, 23885164, 33372566, 33960280, 34535971, 37121194, 38454848	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Cone Dystrophy 3B	Retinal Cone Dystrophy	ORPHANET_DG	16909397, 18235024, 18400204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Cone Dystrophy 3B	Retinal Cone Dystrophy	UNIPROT_DG	16909397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Cone Dystrophy 3B	Retinal Cone Dystrophy	BEFREE	18235024, 21882291, 23725738, 23885164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Cone Dystrophy 3B	Retinal Cone Dystrophy	CLINVAR_DG	18235024, 21882291, 21911584, 23115240, 23885164		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Cone Dystrophy 3B	Retinal Cone Dystrophy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Cone Dystrophy 3B	Retinal Cone Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Retinal Diseases	BEFREE	21558291, 23077521, 23885164, 24210337		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	33309813, 36161854	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	21882291		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	23440187	Associate	★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	CLINVAR_DG	30718709		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23221069, 33309813	Associate	★☆☆☆☆ Found in Text Mining only