Identity
HGNC
LOCATION
13q32.3
LOCUSID
ALIAS
CLIFAHDD,CanIon,IHPRF,IHPRF1,INNFD,VGCNL1,bA430M15.1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 259232
MIM: 611549
HGNC: 19082
Ensembl: ENSG00000102452
Variants:
dbSNP: 259232
ClinVar: 259232
TCGA: ENSG00000102452
COSMIC: NALCN
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102452 | ENST00000251127 | Q8IZF0 |
| ENSG00000102452 | ENST00000251127 | A0A024RE05 |
| ENSG00000102452 | ENST00000376200 | Q8IZF0 |
| ENSG00000102452 | ENST00000648359 | A0A3B3ISV8 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA446155 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | Disease | ClinicalAnnotation | associated | PK | 19176441 | |
| PA450428 | methotrexate | Chemical | ClinicalAnnotation | associated | PK | 19176441 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37615954 | 2024 | New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN. | 4 |
| 37615954 | 2024 | New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN. | 4 |
| 37452996 | 2023 | Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection. | 0 |
| 37452996 | 2023 | Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection. | 0 |
| 34929720 | 2022 | Structural architecture of the human NALCN channelosome. | 11 |
| 34929720 | 2022 | Structural architecture of the human NALCN channelosome. | 11 |
| 32618095 | 2020 | A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly. | 1 |
| 32620897 | 2020 | Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. | 11 |
| 32698188 | 2020 | Structure of the human sodium leak channel NALCN. | 25 |
| 33203861 | 2020 | Structure of the human sodium leak channel NALCN in complex with FAM155A. | 14 |
| 32618095 | 2020 | A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly. | 1 |
| 32620897 | 2020 | Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. | 11 |
| 32698188 | 2020 | Structure of the human sodium leak channel NALCN. | 25 |
| 33203861 | 2020 | Structure of the human sodium leak channel NALCN in complex with FAM155A. | 14 |
| 31409833 | 2019 | Functional 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/new-content/case-report-explorer/
