KCNIP4 (potassium voltage-gated channel interacting protein 4)

2008-01-01  

Identity

HGNC
KCNIP4
LOCATION
4p15.31
LOCUSID
80333
ALIAS
CALP,KCHIP4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80333
MIM: 608182
HGNC: 30083
Ensembl: ENSG00000185774

Variants:

dbSNP: 80333
ClinVar: 80333
TCGA: ENSG00000185774
COSMIC: KCNIP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185774ENST00000359001Q6PIL6
ENSG00000185774ENST00000382148Q6PIL6
ENSG00000185774ENST00000382149Q3YAB7
ENSG00000185774ENST00000382150Q6PIL6
ENSG00000185774ENST00000382152Q6PIL6
ENSG00000185774ENST00000447367Q6PIL6
ENSG00000185774ENST00000509207Q6PIL6
ENSG00000185774ENST00000515786F5H395

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 1 - inactivation of fast Na+ channelsREACTOMER-HSA-5576894

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712308Ace Inhibitors, PlainChemicalClinicalAnnotationassociatedPD26169577, 28084903

References

Pubmed IDYearTitleCitations
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
118472322002Molecular cloning and characterization of CALP/KChIP4, a novel EF-hand protein interacting with presenilin 2 and voltage-gated potassium channel subunit Kv4.51
208773002012Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.26
200454632010KChIP4a regulates Kv4.2 channel trafficking through PKA phosphorylation.24
189574402008Multiple Kv channel-interacting proteins contain an N-terminal transmembrane domain that regulates Kv4 channel trafficking and gating.21
261695772016A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough.19
216249542011RNA polymerase III drives alternative splicing of the potassium channel-interacting protein contributing to brain complexity and neurodegeneration.17
234575222013Integration of mouse and human genome-wide association data identifies KCNIP4 as an asthma gene.15

Citation

Dessen P

KCNIP4 (potassium voltage-gated channel interacting protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/gene/49981/kcnip4