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NALCN Gene

protein-coding   GIFtS: 55
GCID: GC13M101706

Sodium Leak Channel, Non-Selective

(Previous name: voltage gated channel like 1)
(Previous symbol: VGCNL1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sodium Leak Channel, Non-Selective1 2     INNFD2 5
VGCNL11 2 3     bA430M15.12
Voltage Gated Channel Like 11 2     Four Repeat Voltage-Gated Ion Channel2
Voltage Gated Channel-Like Protein 12 3     Sodium Leak Channel Non-Selective Protein2
CanIon2 3     

External Ids:    HGNC: 190821   Entrez Gene: 2592322   Ensembl: ENSG000001024527   OMIM: 6115495   UniProtKB: Q8IZF03   

Export aliases for NALCN gene to outside databases

Previous GC identifers: GC13M100505 GC13M082301


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 neuroaxonal neurodegeneration, infantile, with facial dysmophism, and bipolar disorder. GO annotations related to this gene include sodium channel activity and voltage-gated ion channel activity. An important paralog of this gene is CACNA1A.

UniProtKB/Swiss-Prot: NALCN_HUMAN, Q8IZF0
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000013.11  NT_009952.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NALCN gene promoter:
         p53   AML1a   MyoD   FOXL1   E47   S8   POU2F1   POU2F1a   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNALCN promoter sequence
   Search Chromatin IP Primers for NALCN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NALCN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q32.3   Ensembl cytogenetic band:  13q33.1   HGNC cytogenetic band: 13q32.3

NALCN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NALCN gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M101706:  view genomic region     (about GC identifiers)

Start:
101,706,130 bp from pter      End:
102,068,843 bp from pter
Size:
362,714 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NALCN_HUMAN, Q8IZF0 (See protein sequence)
Recommended Name: Sodium leak channel non-selective protein  
Size: 1738 amino acids; 200331 Da
Subunit: Interacts with UNC79 and UNC80 (By similarity)
Sequence caution: Sequence=BAD18738.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6P2S6 Q6ZMI7 Q8IZZ1 Q8TAH1
Alternative splicing: 3 isoforms:  Q8IZF0-1   Q8IZF0-2   Q8IZF0-3   

Explore the universe of human proteins at neXtProt for NALCN: NX_Q8IZF0

Explore proteomics data for NALCN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NALCN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_443099.1  
    ENSEMBL proteins: 
     ENSP00000251127   ENSP00000365367   ENSP00000365373  
    Reactome Protein details: Q8IZF0

    NALCN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NALCN

    NALCN Antibody Products:

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    Novus Biologicals NALCN Antibodies
    Abcam antibodies for NALCN
    Cloud-Clone Corp. Antibodies for NALCN
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    Search LSBio for Antibodies for NALCN

    NALCN Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NALCN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NALCN
    Cloud-Clone Corp. CLIAs for NALCN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NALCN: Ion channels / Sodium leak channels, non-selective

    IUPHAR Guide to PHARMACOLOGY protein family classification: Navi2.1
    Sodium leak channel, non-selective

    3 InterPro protein domains:
     IPR005821 Ion_trans_dom
     IPR028823 NALCN
     IPR027359 Channel_four-helix_dom

    Graphical View of Domain Structure for InterPro Entry Q8IZF0

    ProtoNet protein and cluster: Q8IZF0

    UniProtKB/Swiss-Prot: NALCN_HUMAN, Q8IZF0
    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
    Similarity: Belongs to the cation-nonselective channel family


    NALCN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NALCN_HUMAN, Q8IZF0
    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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005244voltage-gated ion channel activity IEA--
    GO:0005272sodium channel activity TAS--
    GO:0005515protein binding IPI19575010
         
    NALCN for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for NALCN:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Upregulation of Wnt/beta-caten 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nalcn):
     behavior/neurological  embryogenesis  homeostasis/metabolism  mortality/aging  nervous system 
     no phenotypic analysis  respiratory system 

    NALCN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nalcntm1.1Dren for NALCN

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NALCN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NALCN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NALCN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NALCN

    miRNA
    Products:
        
    miRTarBase miRNAs that target NALCN:
    hsa-mir-122-5p (MIRT023347)

    Block miRNA regulation of human, mouse, rat NALCN using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate NALCN:
    hsa-miR-587 hsa-miR-628-5p hsa-miR-20b*
    SwitchGear 3'UTR luciferase reporter plasmidNALCN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NALCN
    Predesigned siRNA for gene silencing in human, mouse, rat NALCN

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for NALCN

    Clone
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    OriGene clones in human, mouse for NALCN (see all 5)
    OriGene ORF clones in mouse, rat for NALCN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NALCN (NM_052867)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NALCN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NALCN

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NALCN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NALCN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NALCN_HUMAN, Q8IZF0: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    NALCN for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NALCN About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for NALCN
        Stimuli-sensing channels



    NALCN for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NALCN
    Interactions:

        Search GeneGlobe Interaction Network for NALCN

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for NALCN (Q8IZF01, 2, 3 ENSP000002511274) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRM3P203091, 2, 3, ENSP000002553804EBI-7085333,EBI-2687785 MINT-7255462 MINT-7255449 MINT-7255436 I2D: score=1 STRING: ENSP00000255380
    ATG4BQ9Y4P13I2D: score=1 
    MPPE1ENSP000003112004STRING: ENSP00000311200
    TOP2AENSP000004115324STRING: ENSP00000411532
    TOP2BENSP000003967044STRING: ENSP00000396704
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0008219cell death IEA--
    GO:0034220ion transmembrane transport TAS--
    GO:0035725sodium ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    NALCN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NALCN

    2 HMDB Compounds for NALCN    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    SodiumSodium (see all 2)7440-23-5--

    4 IUPHAR Ligands for NALCN (Navi2.1)    About this table
    LigandTypeActionAffinityPubmed IDs
    Gd3+
    Channel blockerNone5.6--
    Cd2+
    Channel blockerNone3.8--
    Co2+
    Channel blockerNone3.6--
    verapamil
    Channel blockerNone3.4--

    1 PharmGKB related drug/compound annotation for NALCN gene    About this table
    Drug/compound PharmGKB Annotation
    methotrexateCA  



    NALCN for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NALCN gene: 
    NM_052867.2  

    Unigene Cluster for NALCN:

    Sodium leak channel, non-selective
    Hs.525146  [show with all ESTs]
    Unigene Representative Sequence: NM_052867
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251127(uc001vox.1) ENST00000467264 ENST00000497170(uc001voy.3)
    ENST00000470333(uc001vpa.2) ENST00000376196(uc001voz.2) ENST00000376200

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NALCN using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate NALCN:
    hsa-miR-587 hsa-miR-628-5p hsa-miR-20b*
    SwitchGear 3'UTR luciferase reporter plasmidNALCN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NALCN
    Predesigned siRNA for gene silencing in human, mouse, rat NALCN
    Clone
    Products:
         
    OriGene clones in human, mouse for NALCN (see all 5)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NALCN (NM_052867)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NALCN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NALCN
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NALCN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NALCN
      QuantiTect SYBR Green Assays in human, mouse, rat NALCN
      QuantiFast Probe-based Assays in human, mouse, rat NALCN

    Additional mRNA sequence: 

    AF339780.1 AK002089.1 AK055506.1 AK094390.1 AK094669.1 AK126621.1 AK126718.1 AK172752.1 
    AY141972.1 BC012128.1 BC028390.1 BC064343.1 

    6 DOTS entries:

    DT.109049  DT.100009034  DT.91697284  DT.91655058  DT.40115258  DT.86856304 

    Selected AceView cDNA sequences (see all 72):

    BC012128 NM_052867 BC064343 AK002089 AY141972 BX508225 AI811060 CA775297 
    BU948062 BM556576 AU145670 BU069355 BE220114 AU138314 AI168806 AW149508 
    N40916 AK126621 AK172752 AI143380 BC028390 BQ773160 AK055506 AK094669 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NALCN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTCAGGAG
    NALCN Expression
    About this image


    NALCN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Oligodendrocyte Precursor Cells Forebrain White Matter
    NALCN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NALCN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.525146
        Custom PCR Arrays for NALCN
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NALCN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NALCN
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NALCN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NALCN gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nalcn1 , 5 sodium leak channel, non-selective1, 5 89.57(n)1
    98.68(a)1
      14 (66.04 cM)5
    3383701  NM_177393.41  NP_796367.31 
     1232766415 
    chicken
    (Gallus gallus)
    Aves NALCN1 sodium leak channel, non-selective 83.79(n)
    96.89(a)
      418770  XM_416967.3  XP_416967.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 4)
    Uncharacterized protein
    (see all 4)
    96(a)
    95(a)
    (see all 4)
    1 ↔ many
    1 ↔ many
    (see all 4)
    3(100010771-100225493)
    3(99931216-99957580)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nalcn1 sodium leak channel, non-selective 80.4(n)
    95.74(a)
      100492286  XM_002937079.2  XP_002937125.2 
    zebrafish
    (Danio rerio)
    Actinopterygii nalcn1 sodium leak channel, non-selective 77.56(n)
    91.32(a)
      548345  NM_001017549.2  NP_001017549.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta na1 narrow abdomen 58.29(n)
    58.05(a)
      45338  NM_001103511.2  NP_001096981.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nca-21 nca-2 52.91(n)
    50.43(a)
      175674  NM_065653.4  NP_498054.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CCH1(YGR217W)4 Voltage-gated high-affinity calcium channel involved more   --   7(924696-930815) 853131  NP_011733.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NALCN gene
    CACNA1A2  CACNA1E2  CACNA1B2  

    NALCN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NALCN (see all 7824)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0705994
    Hypotonia, infantile, with psychomotor retardation and characteristic facies (IHPRF)4--see VAR_0705992 W L mis40--------
    rs1459103771,2
    C,Funtested1102047576(+) TCTGCC/TGTGTA 2 T syn11Minor allele frequency- T:0.00NA 4550
    rs676974761,2
    C--82325276(-) CAGTG-/AAAGGGGA
    AGCCCCTTATA
    AAACT
    1 -- int11Minor allele frequency- AAAGGGGAAGCCCCTTATA:0.00NA 2
    rs681396491,2
    C--82384468(-) GTATA-/ATATATA 1 -- int11Minor allele frequency- AT:0.00NA 2
    rs677079431,2
    C--82398924(-) GTATA-/ATGATCTT 1 -- int12Minor allele frequency- ATG:0.25NA CSA 4
    rs105715011,2
    C--82653688(+) atctc-/AA/AAA
            
    aaaaa
    1 -- int11NA 2
    rs604311671,2
    C--82867772(+) ATATA-/TACA  
            
    CATAT
    1 -- int11Minor allele frequency- TACA:0.00NA 2
    rs780265291,2
    C--101712155(+) AGGACG/ACCTCG 1 -- int12Minor allele frequency- A:0.00WA EU 1441
    rs1165431921,2
    C--101712159(+) CGCCTC/TGTGCC 1 -- int12Minor allele frequency- T:0.00WA EU 1439
    rs2020480221,2
    --101712228(+) GGGTGG/TTCTCG 2 N T mis10--------

    HapMap Linkage Disequilibrium report for NALCN (101706130 - 101956130 bp, first 250kb of NALCN)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NALCN (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2424310CNV Deletion19546169
    esv2747898CNV Deletion23290073
    esv2747897CNV Deletion23290073
    esv2659720CNV Deletion23128226
    nsv820338CNV Deletion20802225
    esv3337CNV Deletion18987735
    esv1761857CNV Deletion17803354
    esv987666CNV Deletion20482838
    esv1093475CNV Deletion17803354
    esv2671073CNV Deletion23128226

    Human Gene Mutation Database (HGMD): NALCN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NALCN
    DNA2.0 Custom Variant and Variant Library Synthesis for NALCN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611549   
    OMIM disorders: 615419  
    UniProtKB/Swiss-Prot: NALCN_HUMAN, Q8IZF0
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 8 diseases for NALCN:    
    About MalaCards
    neuroaxonal neurodegeneration, infantile, with facial dysmophism    bipolar disorder    dementia    neuronitis
    schizophrenia    lung cancer    pancreatitis    malaria


    NALCN for disorders           About GeneDecksing

    Genetic Association Database (GAD): NALCN
    Human Genome Epidemiology (HuGE) Navigator: NALCN (4 documents)

    Export disorders for NALCN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NALCN gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with NALCN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The neuronal channel NALCN contributes resting sodium permeability and is required for normal respiratory rhythm. (PubMed id 17448995)1, 2, 3 Lu B.... Ren D. (Cell 2007)
    2. Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. (PubMed id 23749988)1, 2 KAProA9lu A.8....Tolun A. (J. Med. Genet. 2013)
    3. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. (PubMed id 24075186)1, 2 Al-Sayed M.D....Kaya N. (Am. J. Hum. Genet. 2013)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PubMed id 20889312)1, 4 Wang K.S....Aragam N. (Schizophr. Res. 2010)
    6. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PubMed id 19308021)1, 4 Ollila H.M....Paunio T. (Mol. Psychiatry 2009)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. (PubMed id 12364586)1, 2 Chumakov I.... Cohen D. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. (PubMed id 23144319)1 Lee Y....Lee J.S. (Carcinogenesis 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 259232 HGNC: 19082 AceView: VGCNL1 Ensembl:ENSG00000102452 euGenes: HUgn259232
    ECgene: NALCN H-InvDB: NALCN

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NALCN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NALCN gene:
    Search GeneIP for patents involving NALCN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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