KCND2 (potassium voltage-gated channel subfamily D member 2)

2015-11-01  

Identity

HGNC
KCND2
LOCATION
7q31.31
LOCUSID
3751
ALIAS
KV4.2,RK5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3751
MIM: 605410
HGNC: 6238
Ensembl: ENSG00000184408

Variants:

dbSNP: 3751
ClinVar: 3751
TCGA: ENSG00000184408
COSMIC: KCND2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184408ENST00000331113Q9NZV8
ENSG00000184408ENST00000331113A4D0V9
ENSG00000184408ENST00000425288H7C445

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Serotonergic synapseKEGGhsa04726
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 1 - inactivation of fast Na+ channelsREACTOMER-HSA-5576894

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
329777242021Potassium voltage-gated channel subfamily D member 2 induces an aggressive phenotype in lung adenocarcinoma.6
342452602021KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.13
345522432021Structural basis of gating modulation of Kv4 channel complexes.27
329777242021Potassium voltage-gated channel subfamily D member 2 induces an aggressive phenotype in lung adenocarcinoma.6
342452602021KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.13
345522432021Structural basis of gating modulation of Kv4 channel complexes.27
326414942020Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.3
326414942020Modulation of Kv4.2/KChIP3 interaction by the ceroid lipofuscinosis neuronal 3 protein CLN3.3
293851762018Somatodendritic surface expression of epitope-tagged and KChIP binding-deficient Kv4.2 channels in hippocampal neurons.4
295812702018Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening.17
300517292018KCND2 upregulation might be an independent indicator of poor survival in gastric cancer.4
305711832018Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel.11
293851762018Somatodendritic surface expression of epitope-tagged and KChIP binding-deficient Kv4.2 channels in hippocampal neurons.4
295812702018Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening.17
300517292018KCND2 upregulation might be an independent indicator of poor survival in gastric cancer.4

Citation

Dessen P

KCND2 (potassium voltage-gated channel subfamily D member 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version: http://atlasgeneticsoncology.org/gene/55511