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

2014-11-01  

Identity

HGNC
KCNV2
LOCATION
9p24.2
LOCUSID
169522
ALIAS
KV11.1,Kv8.2,RCD3B

Other Information

Locus ID:

NCBI: 169522
MIM: 607604
HGNC: 19698
Ensembl: ENSG00000168263

Variants:

dbSNP: 169522
ClinVar: 169522
TCGA: ENSG00000168263
COSMIC: KCNV2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168263ENST00000382082Q8TDN2

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
120607452002Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome.51
169093972006Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.35
187087432007Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol.23
214029062011Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.23
182350242008Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.20
218822912011Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.15
232210692013Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".14
215582912012High-resolution optical coherence tomography imaging in KCNV2 retinopathy.13
178963112007Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.12
199529852010"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.12

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64815/kcnv2