NALCN (sodium leak channel, non-selective)

2014-11-01  

Identity

HGNC
NALCN
LOCATION
13q32.3
LOCUSID
259232
ALIAS
CLIFAHDD,CanIon,IHPRF,IHPRF1,INNFD,VGCNL1,bA430M15.1
FUSION GENES
Show Gene Fusions

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
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
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
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 2
appendix
spleen
lymph node
tonsil
bone marrow

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/haematological-explorer/css/lib/gene-fusions/?id=70678