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
376159542024New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN.4
376159542024New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN.4
374529962023Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.0
374529962023Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.0
349297202022Structural architecture of the human NALCN channelosome.11
349297202022Structural architecture of the human NALCN channelosome.11
326180952020A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.1
326208972020Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.11
326981882020Structure of the human sodium leak channel NALCN.25
332038612020Structure of the human sodium leak channel NALCN in complex with FAM155A.14
326180952020A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.1
326208972020Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.11
326981882020Structure of the human sodium leak channel NALCN.25
332038612020Structure of the human sodium leak channel NALCN in complex with FAM155A.14
314098332019Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.11

Citation

Dessen P

NALCN (sodium leak channel, non-selective)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70678/gene-fusions-explorer/css/lib/favicon/favicon-32x32.png