NALCN (sodium leak channel, non-selective)

2014-11-01  

Identity

HGNC
LOCATION
13q32.3
LOCUSID
ALIAS
CLIFAHDD,CanIon,IHPRF,IHPRF1,INNFD,VGCNL1,bA430M15.1
FUSION GENES

Other Information

Locus ID:

NCBI: 259232
MIM: 611549
HGNC: 19082
Ensembl: ENSG00000102452

Variants:

dbSNP: 259232
ClinVar: 259232
TCGA: ENSG00000102452
COSMIC: NALCN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102452ENST00000251127Q8IZF0
ENSG00000102452ENST00000251127A0A024RE05
ENSG00000102452ENST00000376200Q8IZF0
ENSG00000102452ENST00000648359A0A3B3ISV8

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446155Precursor Cell Lymphoblastic Leukemia-LymphomaDiseaseClinicalAnnotationassociatedPK19176441
PA450428methotrexateChemicalClinicalAnnotationassociatedPK19176441

References

Pubmed IDYearTitleCitations
208893122010A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.84
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
195750102009The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line.47
193080212009Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort.29
195359182009UNC80 functions as a scaffold for Src kinases in NALCN channel function.14
267087532016Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.12
301678502018Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).7
206740382011Lack of association of NALCN genetic variants with schizophrenia.0
206740382011Lack of association of NALCN genetic variants with schizophrenia.0
237499882013Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.0

Citation

Dessen P

NALCN (sodium leak channel, non-selective)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70678/nalcn