KCNA5 (potassium voltage-gated channel subfamily A member 5)

2007-09-01  

Identity

HGNC
KCNA5
LOCATION
12p13.32
LOCUSID
3741
ALIAS
ATFB7,HCK1,HK2,HPCN1,KV1.5,PCN1

Other Information

Locus ID:

NCBI: 3741
MIM: 176267
HGNC: 6224
Ensembl: ENSG00000130037

Variants:

dbSNP: 3741
ClinVar: 3741
TCGA: ENSG00000130037
COSMIC: KCNA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130037ENST00000252321P22460

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
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
180838912008Mitochondrial metabolism, redox signaling, and fusion: a mitochondria-ROS-HIF-1alpha-Kv1.5 O2-sensing pathway at the intersection of pulmonary hypertension and cancer.146
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
172675492007Function of Kv1.5 channels and genetic variations of KCNA5 in patients with idiopathic pulmonary arterial hypertension.57
152179122004Preferential expression and function of voltage-gated, O2-sensitive K+ channels in resistance pulmonary arteries explains regional heterogeneity in hypoxic pulmonary vasoconstriction: ionic diversity in smooth muscle cells.53
190293742008Kv channel gating requires a compatible S4-S5 linker and bottom part of S6, constrained by non-interacting residues.48
232645832013Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation.41
193430452009Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation.40
193430452009Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation.40
160518872005Kv1.5 surface expression is modulated by retrograde trafficking of newly endocytosed channels by the dynein motor.35
136793722003Gating of shaker-type channels requires the flexibility of S6 caused by prolines.34

Citation

Dessen P

KCNA5 (potassium voltage-gated channel subfamily A member 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-09-01

Online version: http://atlasgeneticsoncology.org/gene/49727/kcna5