GenTIGS

Sodium leak channel, non-selective (NALCN) Associated conditions: 1. Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 2. Arthrogryposis multiplex congenita

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001350748.2	NP_001337677.1	NC_000013.11	(101053775..101417178, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001350749.2	NP_001337678.1	NC_000013.11	(101053775..101417178, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_001350750.2	NP_001337679.1	NC_000013.11	(101053775..101417178, complement)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NM_001350751.2	NP_001337680.1	NC_000013.11	(101053775..101417178, complement)	Reference GRCh38.p14 Primary Assembly	-
5	REVIEWED	NM_052867.4	NP_443099.1	NC_000013.11	(101053775..101417178, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 158 reference articles

Variant Information Sodium leak channel, non-selective (NALCN) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Sodium leak channel, non-selective (NALCN)

ClinVar variants:Revealing mutagenic patterns

GO Term of Sodium leak channel, non-selective (NALCN)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	monoatomic ion channel activity	Function	-
2	Homo sapiens	IDA	enables	voltage-gated sodium channel activity	Function	32698188
3	Homo sapiens	IMP	enables	voltage-gated sodium channel activity	Function	32494638
4	Homo sapiens	IBA	enables	monoatomic cation channel activity	Function	-
5	Homo sapiens	IEA	enables	monoatomic cation channel activity	Function	-
6	Homo sapiens	ISS	enables	monoatomic cation channel activity	Function	-
7	Homo sapiens	IEA	enables	sodium channel activity	Function	-
8	Homo sapiens	TAS	enables	sodium channel activity	Function	-
9	Homo sapiens	IPI	enables	protein binding	Function	19575010 25416956
10	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
11	Homo sapiens	IDA	located_in	plasma membrane	Component	31409833 32698188
12	Homo sapiens	IEA	located_in	plasma membrane	Component	-
13	Homo sapiens	NAS	located_in	plasma membrane	Component	34929720
14	Homo sapiens	TAS	located_in	plasma membrane	Component	-
15	Homo sapiens	IEA	involved_in	monoatomic ion transport	Process	-
16	Homo sapiens	IEA	involved_in	sodium ion transport	Process	-
17	Homo sapiens	IEA	located_in	membrane	Component	-
18	Homo sapiens	ISS	enables	leak channel activity	Function	-
19	Homo sapiens	IBA	involved_in	positive regulation of synaptic transmission, cholinergic	Process	-
20	Homo sapiens	IBA	involved_in	positive regulation of synaptic transmission, GABAergic	Process	-
21	Homo sapiens	IEA	involved_in	monoatomic ion transmembrane transport	Process	-
22	Homo sapiens	TAS	involved_in	monoatomic ion transmembrane transport	Process	-
23	Homo sapiens	IEA	part_of	monoatomic ion channel complex	Component	-
24	Homo sapiens	IDA	involved_in	sodium ion transmembrane transport	Process	34929720
25	Homo sapiens	IEA	involved_in	sodium ion transmembrane transport	Process	-
26	Homo sapiens	ISS	involved_in	sodium ion transmembrane transport	Process	-
27	Homo sapiens	IEA	involved_in	transmembrane transport	Process	-
28	Homo sapiens	ISS	involved_in	regulation of resting membrane potential	Process	-
29	Homo sapiens	ISS	involved_in	calcium ion transmembrane transport	Process	-
30	Homo sapiens	ISS	involved_in	potassium ion transmembrane transport	Process	-
31	Homo sapiens	IDA	involved_in	regulation of neuronal action potential	Process	34929720