NALCN sodium leak channel, non-selective [Homo sapiens] - Gene

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Summary

Official Symbol: NALCNprovided by HGNC
Official Full Name: sodium leak channel, non-selectiveprovided by HGNC
Primary source: HGNC:19082
See related: Ensembl:ENSG00000102452; HPRD:15647; MIM:611549; Vega:OTTHUMG00000017295
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CanIon; VGCNL1; bA430M15.1; FLJ23913; FLJ44659; FLJ44764; MGC74524
Summary: 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]

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Genomic context

Location :: 13q32.3

Sequence :: Chromosome: 13; NC_000013.10 (101706130..102068813, complement)

See NALCN in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

This study observed nominal association with rs9518320 and rs9518331, suggesting that NALCN is not related to schizophrenia risk.
Title: Lack of association of NALCN genetic variants with schizophrenia.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
UNC80 functions as a scaffold for Src kinases in NALCN channel function.
Title: UNC80 functions as a scaffold for Src kinases in NALCN channel function.
Data show the molecular basis of a muscarinic-activated inward sodium current that is independent of G-protein activation, and provide new insights into the properties of NALCN channels.
Title: The NALCN ion channel is activated by M3 muscarinic receptors in a pancreatic beta-cell line.
Observational study of gene-disease association. (HuGE Navigator)
Title: Lack of association of NALCN genetic variants with schizophrenia.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

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Function	Evidence Code	Pubs
sodium channel activity	IEA Inferred from Electronic Annotation more info
voltage-gated ion channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
ion transport	IEA Inferred from Electronic Annotation more info
transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: sodium leak channel non-selective protein

Names: sodium leak channel non-selective protein; voltage gated channel like 1; voltage gated channel-like protein 1; four repeat voltage-gated ion channel

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_052867.2 → NP_443099.1 sodium leak channel non-selective protein

Status: VALIDATED

Source sequence(s)

AK002089, AY141972, BC012128, DA128114

Consensus CDS

CCDS9498.1

UniProtKB/TrEMBL

B3KMK1

UniProtKB/Swiss-Prot

Q8IZF0

Related

ENSP00000251127, OTTHUMP00000018654, ENST00000251127, OTTHUMT00000045663

Conserved Domains (2) summary

pfam00520
Location:920 – 1155
Blast Score: 262

Ion_trans; Ion transport protein

pfam08016
Location:1340 – 1451
Blast Score: 114

PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

101706130..102068813, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

82301975..82662087, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AE014293.1	AAN16023.1
genomic	AL138707.10	CAI40711.1
genomic	AL354891.11	CAH73919.1
genomic	AL356778.13	CAI16648.1
genomic	CH471085.1	EAX09045.1
		EAX09046.1
		EAX09047.1
		EAX09048.1
		EAX09049.1
		EAX09050.1
mRNA	AF339780.1	None
mRNA	AK002089.1	BAG51013.1
mRNA	AK055506.1	BAG51529.1
mRNA	AK094390.1	None
mRNA	AK094669.1	BAG52908.1
mRNA	AK126621.1	BAG54350.1
mRNA	AK126718.1	BAG54365.1
mRNA	AK172752.1	BAD18738.1
mRNA	AY141972.1	AAN10255.1
mRNA	BC012128.1	None
mRNA	BC028390.1	AAH28390.1
mRNA	BC064343.1	AAH64343.1
mRNA	DA128114.1	None
other-genetic	JF432261.1	ADZ15478.1