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Aliases for NALCN Gene

Aliases for NALCN Gene

  • Sodium Leak Channel, Non-Selective 2 3 5
  • Voltage Gated Channel Like 1 2 3
  • VGCNL1 3 4
  • CanIon 3 4
  • Sodium Leak Channel Non-Selective Protein 3
  • Four Repeat Voltage-Gated Ion Channel 3
  • Voltage Gated Channel-Like Protein 1 4
  • BA430M15.1 3
  • CLIFAHDD 3
  • IHPRF1 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

  • This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]

GeneCards Summary for NALCN Gene

NALCN (Sodium Leak Channel, Non-Selective) is a Protein Coding gene. Diseases associated with NALCN include Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay and Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1. 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. Gene Ontology (GO) annotations related to this gene include ion channel activity and sodium channel activity. An important paralog of this gene is CACNA1C.

UniProtKB/Swiss-Prot for NALCN Gene

  • Voltage-independent, cation-nonselective channel which is permeable to sodium, potassium and calcium ions. Regulates the resting membrane potential and controls neuronal excitability (PubMed:17448995). Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by controlling the serum sodium concentration. NALCN is partly responsible for the substance P-induced depolarization and regulation of the intestinal pace-making activity in the interstitial cells of Cajal. Plays a critical role in both maintenance of spontaneous firing of substantia nigra pars reticulata (SNr) neurons and physiological modulation of SNr neuron excitability (By similarity).

Additional gene information for NALCN Gene

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

Genomics for NALCN Gene

GeneHancer (GH) Regulatory Elements for NALCN Gene

Promoters and enhancers for NALCN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I101416 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 559.1 +0.6 557 1.3 ZIC2 E2F1 ZNF335 ZFHX2 POLR2A ZBTB48 PATZ1 SCRT2 PRDM10 ZNF600 NALCN GC13P101329 GC13P101330 GC13P101328 GC13P101326 GC13P101298 GC13P101299 GC13P101276 GC13P101277 GC13P101278
GH13I101448 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 8.7 -36.0 -35998 9.4 CTCF MXI1 USF1 JUN MAX SIN3A RAD21 RFX5 POLR2A PATZ1 ITGBL1 NALCN HMGB3P7 FGF14 GC13M101537 GC13P101298 GC13P101276 GC13P101277
GH13I101520 Enhancer 0.9 Ensembl ENCODE dbSUPER 6.3 -104.1 -104058 1.7 JUND POLR2A JUN CREB1 ATF7 ATF2 MAFK RNU1-24P FGF14 HMGB3P7 NALCN GC13M101537 ITGBL1 GC13P101298 GC13P101276 GC13P101277
GH13I101529 Enhancer 0.8 Ensembl ENCODE dbSUPER 5.6 -112.6 -112572 1.5 ZNF687 IKZF1 IKZF2 NALCN FGF14 HMGB3P7 GC13M101537 ITGBL1 GC13P101298 GC13P101276 GC13P101277
GH13I101397 Enhancer 0.4 ENCODE 8.7 +18.6 18611 2.4 JUND POLR2A FOS ITGBL1 NALCN GC13P101326 GC13P101328 GC13P101329 GC13P101330 GC13P101298 GC13P101299 GC13P101276 GC13P101277
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NALCN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NALCN gene promoter:

Genomic Locations for NALCN Gene

Genomic Locations for NALCN Gene
chr13:101,053,776-101,417,205
(GRCh38/hg38)
Size:
363,430 bases
Orientation:
Minus strand
chr13:101,706,130-102,068,843
(GRCh37/hg19)

Genomic View for NALCN Gene

Genes around NALCN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NALCN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 UNC80; required for the NALCN activation/inhibition by GPCRs in neurons. Found in a complex with NALCN, UNC79 and UNC80; UNC80 bridges NALCN to UNC79. Interacts with CHRM3.
    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

Post-translational modifications for NALCN Gene

No data available for DME Specific Peptides for NALCN Gene

Domains & Families for NALCN Gene

Gene Families for NALCN Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for NALCN Gene

InterPro:
ProtoNet:

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. S4 transmembrane segments lack some of the charged residues (K and R) found at every third position in the S4s of the NaV, CaV, and KV channels. Pore-forming loops (P loops) between S5 and S6 of each domain form an EEKE sodium- ion selectivity filter a mixture between the EEEE found in the CaVs and the DEKA of NaVs.
  • 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. S4 transmembrane segments lack some of the charged residues (K and R) found at every third position in the S4s of the NaV, CaV, and KV channels. Pore-forming loops (P loops) between S5 and S6 of each domain form an EEKE sodium- ion selectivity filter a mixture between the EEEE found in the CaVs and the DEKA of NaVs.
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. Regulates the resting membrane potential and controls neuronal excitability (PubMed:17448995). Neuropeptides such as neurotensin and substance P (SP) stimulate the firing of action potentials by activating NALCN through a SRC family kinases-dependent pathway. In addition to its baseline activity, NALCN activity is enhanced/modulated by several GPCRs. Required for normal respiratory rhythm and neonatal survival. Involved in systemic osmoregulation by controlling the serum sodium concentration. NALCN is partly responsible for the substance P-induced depolarization and regulation of the intestinal pace-making activity in the interstitial cells of Cajal. Plays a critical role in both maintenance of spontaneous firing of substantia nigra pars reticulata (SNr) neurons and physiological modulation of SNr neuron excitability (By similarity).

Phenotypes From GWAS Catalog for NALCN Gene

Gene Ontology (GO) - Molecular Function for NALCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005261 cation channel activity ISS,IBA --
GO:0005272 sodium channel activity TAS --
GO:0005515 protein binding IPI 19575010
GO:0022840 leak channel activity ISS --
genes like me logo Genes that share ontologies with NALCN: view
genes like me logo Genes that share phenotypes with NALCN: view

Human Phenotype Ontology for NALCN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NALCN Gene

MGI Knock Outs for NALCN:

Animal Model Products

  • Taconic Biosciences Mouse Models for NALCN

miRNA for NALCN Gene

miRTarBase miRNAs that target NALCN

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NALCN gene
Compartment Confidence
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for NALCN Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NALCN Gene

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006816 calcium ion transport IBA --
GO:0034220 ion transmembrane transport TAS,IBA --
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: PharmGKB, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Verapamil Approved Pharma Channel blocker, blocker 135
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1603
calcium Approved Nutra 0
Cd<sup>2+</sup> Pharma Channel blocker 0
Co<sup>2+</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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for NALCN Gene

NURSA nuclear receptor signaling pathways regulating expression of NALCN Gene:

NALCN

SOURCE GeneReport for Unigene cluster for NALCN Gene:

Hs.525146

Evidence on tissue expression from TISSUES for NALCN Gene

  • Nervous system(4.8)
  • Bone(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NALCN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with NALCN: view

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
chimpanzee
(Pan troglodytes)
Mammalia NALCN 33 34
  • 99.62 (n)
oppossum
(Monodelphis domestica)
Mammalia NALCN 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NALCN 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NALCN 33 34
  • 91.6 (n)
cow
(Bos Taurus)
Mammalia NALCN 33 34
  • 90.91 (n)
mouse
(Mus musculus)
Mammalia Nalcn 33 16 34
  • 89.57 (n)
rat
(Rattus norvegicus)
Mammalia Nalcn 33
  • 89.48 (n)
chicken
(Gallus gallus)
Aves NALCN 33 34
  • 83.79 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 96 (a)
OneToMany
-- 34
  • 95 (a)
OneToMany
-- 34
  • 13 (a)
OneToMany
-- 34
  • 11 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nalcn 33
  • 80.4 (n)
zebrafish
(Danio rerio)
Actinopterygii nalcn 33 34
  • 77.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta na 33 34
  • 58.29 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003921 33
  • 57.97 (n)
worm
(Caenorhabditis elegans)
Secernentea nca-2 33
  • 52.91 (n)
F17C8.6 34
  • 45 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCH1 34 36
  • 15 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
OneToOne
Species where no ortholog for NALCN was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1057516040 likely-pathogenic, Congenital contractures of the limbs and face, hypotonia, and developmental delay 101,292,052(-) T/C coding_sequence_variant, missense_variant
rs1057519432 pathogenic, Congenital contractures of the limbs and face, hypotonia, and developmental delay 101,192,042(-) T/C coding_sequence_variant, missense_variant
rs1057519433 pathogenic, Congenital contractures of the limbs and face, hypotonia, and developmental delay 101,292,072(-) A/G coding_sequence_variant, missense_variant
rs587777038 pathogenic, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 101,144,812(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs587777068 pathogenic, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (IHPRF1) [MIM:615419] 101,081,552(-) C/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv121e215 CNV deletion 23714750
dgv3364n54 CNV gain 21841781
dgv3365n54 CNV loss 21841781
dgv3366n54 CNV gain+loss 21841781
dgv3367n54 CNV loss 21841781
dgv3368n54 CNV gain 21841781
dgv578e212 CNV loss 25503493
esv1011072 CNV deletion 20482838
esv1093475 CNV deletion 17803354
esv1761857 CNV deletion 17803354
esv2282833 CNV deletion 18987734
esv23881 CNV gain+loss 19812545
esv2424310 CNV deletion 19546169
esv2524562 CNV loss 19546169
esv2659720 CNV deletion 23128226
esv2671073 CNV deletion 23128226
esv2747897 CNV deletion 23290073
esv2747898 CNV deletion 23290073
esv274989 CNV gain+loss 21479260
esv3247718 CNV deletion 24192839
esv3303305 CNV mobile element insertion 20981092
esv3337 CNV loss 18987735
esv3350657 CNV duplication 20981092
esv3399391 CNV insertion 20981092
esv3550981 CNV deletion 23714750
esv3550982 CNV deletion 23714750
esv3633358 CNV loss 21293372
esv3633359 CNV loss 21293372
esv3633360 CNV loss 21293372
esv3633362 CNV loss 21293372
esv7952 CNV loss 19470904
esv987666 CNV deletion 20482838
nsv1069098 CNV deletion 25765185
nsv1113597 CNV deletion 24896259
nsv1119436 CNV insertion 24896259
nsv1125577 CNV tandem duplication 24896259
nsv1129550 CNV tandem duplication 24896259
nsv1149 CNV deletion 18451855
nsv1150 CNV insertion 18451855
nsv474538 CNV novel sequence insertion 20440878
nsv511517 CNV loss 21212237
nsv512333 CNV loss 21212237
nsv514687 CNV gain 21397061
nsv514688 CNV loss 21397061
nsv516078 CNV loss 19592680
nsv519642 CNV loss 19592680
nsv528744 CNV loss 19592680
nsv562960 CNV gain 21841781
nsv562967 CNV gain+loss 21841781
nsv562973 CNV loss 21841781
nsv562975 CNV loss 21841781
nsv64877 CNV deletion 16902084
nsv820338 CNV deletion 20802225
nsv826769 CNV loss 20364138
nsv826770 CNV loss 20364138
nsv826771 CNV gain+loss 20364138
nsv832699 CNV gain 17160897
nsv832700 CNV gain 17160897
nsv957455 CNV deletion 24416366
nsv958067 CNV deletion 24416366
nsv977275 CNV duplication 23825009

Variation tolerance for NALCN Gene

Residual Variation Intolerance Score: 0.843% 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)

Additional Variant Information for NALCN Gene

Human Gene Mutation Database (HGMD)
NALCN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NALCN

SNP Genotyping and Copy Number Assay Products

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

Disorders for NALCN Gene

MalaCards: The human disease database

(20) MalaCards diseases for NALCN Gene - From: HGMD, OMIM, ClinVar, GTR, 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 1 (IHPRF1) [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.

Additional Disease Information for NALCN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 3 4 58
  2. De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. (PMID: 26763878) Fukai R … Matsumoto N (Journal of human genetics 2016) 3 4 58
  3. Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. (PMID: 27214504) Karakaya M … Cirak S (Neuropediatrics 2016) 3 4 58
  4. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. (PMID: 25683120) Chong JX … Bamshad MJ (American journal of human genetics 2015) 3 4 58
  5. Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. (PMID: 23749988) Köroğlu Ç … Tolun A (Journal of medical genetics 2013) 3 4 58

Products for NALCN Gene

Sources for NALCN Gene

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