Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NALCN Gene

Aliases for NALCN Gene

  • Sodium Leak Channel, Non Selective 2 3
  • Voltage Gated Channel-Like Protein 1 3 4
  • Sodium Leak Channel, Non-Selective 2 3
  • Voltage Gated Channel Like 1 2 3
  • VGCNL1 3 4
  • CanIon 3 4
  • INNFD 3 6
  • Sodium Leak Channel Non-Selective Protein 3
  • Four Repeat Voltage-Gated Ion Channel 3
  • BA430M15.1 3
  • CLIFAHDD 3
  • IHPRF 3

External Ids for NALCN Gene

Previous Symbols for NALCN Gene

  • VGCNL1

Summaries for NALCN Gene

Entrez Gene Summary for NALCN Gene

  • NALCN forms a voltage-independent, nonselective, noninactivating cation channel permeable to Na+, K+, and Ca(2+). It is responsible for the neuronal background sodium leak conductance (Lu et al., 2007 [PubMed 17448995]).[supplied by OMIM, Mar 2008]

GeneCards Summary for NALCN Gene

NALCN (Sodium Leak Channel, Non Selective) is a Protein Coding gene. Diseases associated with NALCN include hypotonia-speech impairment-severe cognitive delay syndrome and neuroaxonal neurodegeneration, infantile, with facial dysmophism. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include voltage-gated ion channel activity and sodium channel activity. An important paralog of this gene is CACNA1A.

UniProtKB/Swiss-Prot for NALCN Gene

  • Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Responsible for the background sodium ion leak current in neurons and controls neuronal excitability. Activated either by neuropeptides substance P or neurotensin. Required for normal respiratory rhythm and neonatal survival (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NALCN Gene

Genomics for NALCN Gene

Genomic Location for NALCN Gene

Start:
101,053,776 bp from pter
End:
101,416,492 bp from pter
Size:
362,717 bases
Orientation:
Minus strand

Genomic View for NALCN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NALCN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NALCN Gene

Regulatory Elements for NALCN Gene

Proteins for NALCN Gene

  • Protein details for NALCN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZF0-NALCN_HUMAN
    Recommended name:
    Sodium leak channel non-selective protein
    Protein Accession:
    Q8IZF0
    Secondary Accessions:
    • Q6P2S6
    • Q6ZMI7
    • Q8IZZ1
    • Q8TAH1

    Protein attributes for NALCN Gene

    Size:
    1738 amino acids
    Molecular mass:
    200331 Da
    Quaternary structure:
    • Interacts with UNC79 and UNC80.
    SequenceCaution:
    • Sequence=BAD18738.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NALCN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NALCN Gene

Proteomics data for NALCN Gene at MOPED

Post-translational modifications for NALCN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NALCN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NALCN Gene

Domains for NALCN Gene

Gene Families for NALCN Gene

HGNC:
  • NALCN :Ion channels / Sodium leak channels, non-selective
IUPHAR :

Protein Domains for NALCN Gene

UniProtKB/Swiss-Prot:

NALCN_HUMAN
Domain:
  • Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position:
    • Q8IZF0
Family:
  • Belongs to the cation-nonselective channel family.:
    • Q8IZF0
genes like me logo Genes that share domains with NALCN: view

Function for NALCN Gene

Molecular function for NALCN Gene

UniProtKB/Swiss-Prot Function: Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Responsible for the background sodium ion leak current in neurons and controls neuronal excitability. Activated either by neuropeptides substance P or neurotensin. Required for normal respiratory rhythm and neonatal survival (By similarity).

Gene Ontology (GO) - Molecular Function for NALCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005245 voltage-gated calcium channel activity IBA --
GO:0005272 sodium channel activity TAS --
GO:0005515 protein binding IPI 19575010
genes like me logo Genes that share ontologies with NALCN: view
genes like me logo Genes that share phenotypes with NALCN: view

Animal Models for NALCN Gene

MGI Knock Outs for NALCN:

miRNA for NALCN Gene

miRTarBase miRNAs that target NALCN

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NALCN Gene

Localization for NALCN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NALCN Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NALCN Gene COMPARTMENTS Subcellular localization image for NALCN gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for NALCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NALCN: view

Pathways for NALCN Gene

genes like me logo Genes that share pathways with NALCN: view

Pathways by source for NALCN Gene

Gene Ontology (GO) - Biological Process for NALCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0008219 cell death --
GO:0030317 NOT sperm motility IBA --
GO:0034220 ion transmembrane transport TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with NALCN: view

Compounds for NALCN Gene

(2) HMDB Compounds for NALCN Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Sodium
  • Sodium
7440-23-5

(4) IUPHAR Ligand for NALCN Gene

Ligand Type Action Affinity Pubmed IDs
Co2+ Channel blocker None 3.6
Gd3+ Channel blocker None
Cd2+ Channel blocker None
verapamil Inhibitor Inhibition

(1) PharmGKB related drug/compound annotations for NALCN Gene

Drug/compound Annotation
methotrexate CA
genes like me logo Genes that share compounds with NALCN: view

Transcripts for NALCN Gene

Unigene Clusters for NALCN Gene

Sodium leak channel, non-selective:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NALCN Gene

No ASD Table

Relevant External Links for NALCN Gene

GeneLoc Exon Structure for
NALCN
ECgene alternative splicing isoforms for
NALCN

Expression for NALCN Gene

mRNA expression in normal human tissues for NALCN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NALCN Gene

SOURCE GeneReport for Unigene cluster for NALCN Gene Hs.525146

genes like me logo Genes that share expressions with NALCN: view

Orthologs for NALCN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NALCN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NALCN 36
  • 99.62 (n)
  • 100 (a)
NALCN 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NALCN 36
  • 90.91 (n)
  • 98.46 (a)
NALCN 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NALCN 36
  • 91.6 (n)
  • 99.19 (a)
NALCN 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nalcn 36
  • 89.57 (n)
  • 98.68 (a)
Nalcn 16
Nalcn 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NALCN 37
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NALCN 37
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nalcn 36
  • 89.48 (n)
  • 98.62 (a)
chicken
(Gallus gallus)
Aves NALCN 36
  • 83.79 (n)
  • 96.89 (a)
NALCN 37
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 11 (a)
OneToMany
-- 37
  • 96 (a)
OneToMany
-- 37
  • 95 (a)
OneToMany
-- 37
  • 13 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nalcn 36
  • 80.4 (n)
  • 95.74 (a)
zebrafish
(Danio rerio)
Actinopterygii nalcn 36
  • 77.56 (n)
  • 91.32 (a)
nalcn 37
  • 90 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003921 36
  • 57.97 (n)
  • 58.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta na 36
  • 58.29 (n)
  • 58.05 (a)
na 37
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F17C8.6 37
  • 45 (a)
OneToOne
nca-2 36
  • 52.91 (n)
  • 50.43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCH1 37
  • 15 (a)
OneToOne
CCH1 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 54 (a)
OneToOne
Species with no ortholog for NALCN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NALCN Gene

ENSEMBL:
Gene Tree for NALCN (if available)
TreeFam:
Gene Tree for NALCN (if available)

Paralogs for NALCN Gene

Paralogs for NALCN Gene

genes like me logo Genes that share paralogs with NALCN: view

Variants for NALCN Gene

Sequence variations from dbSNP and Humsavar for NALCN Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs471071 -- 101,292,458(+) ATACT(C/T)ATTTT intron-variant
rs472879 -- 101,292,665(+) AAGTA(C/T)ATATA intron-variant
rs475328 -- 101,303,400(-) TTCAG(C/T)CTCTC intron-variant
rs475715 -- 101,259,629(-) Tggcc(A/G)ggcat intron-variant
rs476052 -- 101,188,387(-) GTCCA(C/T)GCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NALCN Gene

Variant ID Type Subtype PubMed ID
nsv900961 CNV Gain 21882294
nsv832699 CNV Gain 17160897
nsv900962 CNV Gain 21882294
nsv1149 CNV Loss 18451855
nsv514687 CNV Complex 21397061
nsv900963 CNV Gain 21882294
esv2747897 CNV Deletion 23290073
esv267585 CNV Insertion 20981092
nsv900964 CNV Loss 21882294
dgv1787n71 CNV Gain 21882294
nsv1150 CNV Insertion 18451855
esv274989 CNV Gain+Loss 21479260
nsv511517 CNV Loss 21212237
esv1011072 CNV Deletion 20482838
esv2524562 CNV Loss 19546169
nsv820338 CNV Deletion 20802225
nsv826769 CNV Loss 20364138
esv2424310 CNV Deletion 19546169
nsv512333 CNV Loss 21212237
esv2282833 CNV Deletion 18987734
nsv64877 CNV Loss 16902084
esv1093475 CNV Deletion 17803354
esv7952 CNV Loss 19470904
esv23881 CNV Gain+Loss 19812545
nsv826770 CNV Loss 20364138
nsv826771 CNV Gain+Loss 20364138
nsv514688 CNV Loss 21397061
esv3337 CNV Deletion 18987735
esv2747898 CNV Deletion 23290073
esv1761857 CNV Deletion 17803354
esv2659720 CNV Deletion 23128226
esv987666 CNV Deletion 20482838
nsv832700 CNV Gain 17160897
nsv528744 CNV Loss 19592680
nsv519642 CNV Loss 19592680
esv2671073 CNV Deletion 23128226
nsv516078 CNV Loss 19592680

Relevant External Links for NALCN Gene

HapMap Linkage Disequilibrium report
NALCN
Human Gene Mutation Database (HGMD)
NALCN

Disorders for NALCN Gene

(1) OMIM Diseases for NALCN Gene (611549)

UniProtKB/Swiss-Prot

NALCN_HUMAN
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies (IHPRF) [MIM:615419]: A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies. {ECO:0000269 PubMed:23749988, ECO:0000269 PubMed:24075186}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NALCN

Genetic Association Database (GAD)
NALCN
Human Genome Epidemiology (HuGE) Navigator
NALCN
genes like me logo Genes that share disorders with NALCN: view

Publications for NALCN Gene

  1. The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm. (PMID: 17448995) Lu B. … Ren D. (Cell 2007) 2 3 4
  2. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PMID: 19308021) Ollila H.M. … Paunio T. (Mol. Psychiatry 2009) 3 49
  3. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. (PMID: 12364586) Chumakov I. … Cohen D. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. (PMID: 23749988) KAProA9lu A.8. … Tolun A. (J. Med. Genet. 2013) 3 4

Products for NALCN Gene

Sources for NALCN Gene

Back to Top

Content