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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
  • Four Repeat Voltage-Gated Ion Channel 3
  • BA430M15.1 3
  • CLIFAHDD 3
  • IHPRF 3
  • INNFD 3

External Ids for NALCN Gene

Previous HGNC Symbols for NALCN Gene

  • VGCNL1

Previous GeneCards Identifiers for NALCN Gene

  • GC13M100505
  • GC13M101706
  • GC13M082301

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 hypotonia, infantile, with psychomotor retardation and characteristic facies. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include 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

Regulatory Elements for NALCN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NALCN Gene

Chromosome:
13
Start:
101,053,776 bp from pter
End:
101,417,205 bp from pter
Size:
363,430 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

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:
REFSEQ proteins:

No data available for DME Specific Peptides for NALCN Gene

Domains & Families for NALCN Gene

Gene Families for NALCN Gene

Protein Domains for NALCN Gene

Suggested Antigen Peptide Sequences for NALCN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IZF0

UniProtKB/Swiss-Prot:

NALCN_HUMAN :
  • 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
  • Belongs to the cation-nonselective channel family.
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
Family:
  • Belongs to the cation-nonselective channel family.
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:

Animal Model Products

miRNA for NALCN Gene

miRTarBase miRNAs that target NALCN

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NALCN

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 3
nucleus 2

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 & Interactions 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:0030317 NOT sperm motility IBA --
GO:0034220 ion transmembrane transport TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0035725 sodium ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with NALCN: view

No data available for SIGNOR curated interactions for NALCN Gene

Drugs & Compounds for NALCN Gene

(6) Drugs for NALCN Gene - From: IUPHAR, DGIdb, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Verapamil Approved Pharma Inhibition, Inhibitor, blocker 112
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1387
Cd<sup>2+</sup> Pharma Channel blocker 0
Co<sup>2+</sup> Pharma Channel blocker 0
Gd<sup>3+</sup> Pharma Channel blocker 0

(1) Additional Compounds for NALCN Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NALCN

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for NALCN Gene

This gene is overexpressed in Bone (20.7), Bone marrow mesenchymal stem cell (15.2), Heart (14.1), Platelet (10.7), and Fetal gut (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NALCN: view

Protein tissue co-expression partners for NALCN Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NALCN Gene

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
cow
(Bos Taurus)
Mammalia NALCN 35
  • 90.91 (n)
  • 98.46 (a)
NALCN 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NALCN 35
  • 91.6 (n)
  • 99.19 (a)
NALCN 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nalcn 35
  • 89.57 (n)
  • 98.68 (a)
Nalcn 16
Nalcn 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NALCN 35
  • 99.62 (n)
  • 100 (a)
NALCN 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nalcn 35
  • 89.48 (n)
  • 98.62 (a)
oppossum
(Monodelphis domestica)
Mammalia NALCN 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NALCN 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves NALCN 35
  • 83.79 (n)
  • 96.89 (a)
NALCN 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 11 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
-- 36
  • 95 (a)
OneToMany
-- 36
  • 13 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nalcn 35
  • 80.4 (n)
  • 95.74 (a)
zebrafish
(Danio rerio)
Actinopterygii nalcn 35
  • 77.56 (n)
  • 91.32 (a)
nalcn 36
  • 90 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003921 35
  • 57.97 (n)
  • 58.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta na 35
  • 58.29 (n)
  • 58.05 (a)
na 36
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nca-2 35
  • 52.91 (n)
  • 50.43 (a)
F17C8.6 36
  • 45 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCH1 36
  • 15 (a)
OneToOne
CCH1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
VAR_070599 Hypotonia, infantile, with psychomotor retardation and characteristic facies (IHPRF)
VAR_073361 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD)
VAR_073362 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD)
VAR_073363 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD)
VAR_073364 Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD)

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

Variation tolerance for NALCN Gene

Residual Variation Intolerance Score: .84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NALCN Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NALCN Gene

Disorders for NALCN Gene

MalaCards: The human disease database

(7) MalaCards diseases for NALCN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

NALCN_HUMAN
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) [MIM:616266]: A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay. {ECO:0000269 PubMed:25683120}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NALCN
genes like me logo Genes that share disorders with NALCN: view

No data available for Genatlas for NALCN Gene

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 67
  2. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. (PMID: 25683120) Chong J.X. … Bamshad M.J. (Am. J. Hum. Genet. 2015) 67
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  4. Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. (PMID: 23749988) KAProA9lu A.8. … Tolun A. (J. Med. Genet. 2013) 67
  5. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. (PMID: 24075186) Al-Sayed M.D. … Kaya N. (Am. J. Hum. Genet. 2013) 67

Products for NALCN Gene

Sources for NALCN Gene

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