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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
232256032013Encephalitis and antibodies to dipeptidyl-peptidase-like protein-6, a subunit of Kv4.2 potassium channels.59
194016822010High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.52
162604972005Traffic of Kv4 K+ channels mediated by KChIP1 is via a novel post-ER vesicular pathway.49
169344822006A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.49
145599112004Differential recruitment of Kv1.4 and Kv4.2 to lipid rafts by PSD-95.39
192139562009Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes.39
245012782014Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.35
191717722009Dynamic coupling of voltage sensor and gate involved in closed-state inactivation of kv4.2 channels.30
146238802004Ito channels are octomeric complexes with four subunits of each Kv4.2 and K+ channel-interacting protein 2.27

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/kcnd2