NALCN - sodium leak channel, non-selective Gene

Also Known as IHPRF; INNFD; CanIon; IHPRF1; VGCNL1; CLIFAHDD; bA430M15.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 259232

About NALCN

Cytogenetic location: 13q32.3-q33.1 Genomic coordinates (GRCh38): 13:101,053,776-101,417,179 (from NCBI)

This gene has 18 transcripts (splice variants), 212 orthologues, 26 paralogues and is associated with 9 phenotypes. Biased expression in brain (RPKM 11.1), adrenal (RPKM 2.5) and 5 other tissues.

Summary

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]

NALCN Products (5)

mRNA	Protein	Name
NM_001350748.2	NP_001337677.1	sodium leak channel NALCN isoform 1
NM_001350749.2	NP_001337678.1	sodium leak channel NALCN isoform 2
NM_001350750.2	NP_001337679.1	sodium leak channel NALCN isoform 3
NM_001350751.2	NP_001337680.1	sodium leak channel NALCN isoform 3
NM_052867.4	NP_443099.1	sodium leak channel NALCN isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19575010	GOA
enables voltage-gated sodium channel activity	IDA IDA: Inferred from direct assay	32698188	GOA
enables voltage-gated sodium channel activity	IMP IMP: Inferred from mutant phenotype	32494638	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	31409833	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NALCN Protein Structure

Ion_trans

0
300
600
900
1200
1500
1738 a.a.

Protein Preferred Names	Protein Names
sodium leak channel NALCN	four repeat voltage-gated ion channel

NALCN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NALCN	Q8IZF0	CHRM3	Homo sapiens	P20309	Anti Tag CoIP	19575010
Intra	NALCN	Q8IZF0	MEOX2	Homo sapiens	P50222	Y2H Prey Pooling	25416956
Intra	NALCN	Q8IZF0	MEOX2	Homo sapiens	P50222	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	CLIFAHDD Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome Clifahdd Syndrome Doid:0081048 Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	IHPRF1 Ihprf Infantile Neuroaxonal Neurodegeneration With Facial Dysmophism Innfd Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies, Type 1 Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies Ihprf Syndrome Infantile Hypotonia-Psychomotor Retardation-Characteristic Facies Syndrome
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Arthrogryposis, Distal, Type 2b1	Sheldon-Hall Syndrome Freeman-Sheldon Syndrome Variant Distal Arthrogryposis Type 2b1 DA2B1 Arthrogryposis Multiplex Congenita, Distal, Type 2b Shs Distal Arthrogryposis Type 2b Fssv Arthrogryposis Multiplex Congenita Distal Type 2b Arthrogryposis Multiplex Congenita Distal Type Ii With Craniofacial Abnormalities Da2b Arthrogryposis Multiplex Congenita, Distal, Type Ii, With Craniofacial Abnormalities Distal Arthrogryposis Type Iib Freeman Sheldon Syndrome, Variant Freeman Sheldon Variant Arthrogryposis, Distal, 2b1 Amcd2b
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Neuroaxonal Dystrophy	Neuroaxonal Dystrophies
Congenital Contractures	Congenital Contracture
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Hypotonia, Infantile, With Psychomotor Retardation	IHPMR Severe Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome
Subacute Delirium	Delirium Acute Confusional State Nos
Developmental And Epileptic Encephalopathy 11	Epileptic Encephalopathy, Early Infantile, 11 DEE11 Eiee11 Developmental And Epileptic Encephalopathy, 11 Early Infantile Epileptic Encephalopathy 11 Encephalopathy, Developmental And Epileptic, Type 11
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Hypotonia
Combined Oxidative Phosphorylation Deficiency 30	COXPD30 Combined Oxidative Phosphorylation Defect Type 30 Combined Oxidative Phosphorylation Deficiency, Type 30
Treacher Collins Syndrome 3	TCS3 Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive
Corneal Dystrophy, Endothelial, X-Linked	X-Linked Endothelial Corneal Dystrophy XECD Endothelial Corneal Dystrophy, X-Linked
Episodic Ataxia, Type 8	Episodic Ataxia Type 8 EA8 Episodic Ataxia With Slurred Speech
Cold-Induced Sweating Syndrome	Crisponi Syndrome Sohar-Crisponi Syndrome Ciss Cntf Receptor-Related Disorders Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death Sweating Syndrome, Cold-Induced
Constipation
Cervical Dystonia	Spasmodic Torticollis
Combined Oxidative Phosphorylation Deficiency 6	Severe X-Linked Mitochondrial Encephalomyopathy COXPD6 Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6 Mitochondrial Encephalomyopathy Due To Coxpd6 Encephalomyopathy, Mitochondrial, X-Linked Encephalomyopathy Mitochondrial X-Linked Oxidative Phosphorylation Deficiency, Combined, Type 6
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	BBSOAS Optic Atrophy-Intellectual Disability Syndrome
Schaaf-Yang Syndrome	Prader-Willi-Like Syndrome Chitayat-Hall Syndrome SHFYNG Pwls Magel2-Related Prader-Willi-Like Syndrome Magel2-Related Pwls Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies Pws Due To A Point Mutation Pws Due To Point Mutation Prader-Willi Syndrome Due To A Point Mutation Prader-Willi Syndrome Due To Point Mutation Pws-Like
Corneal Dystrophy, Posterior Polymorphous, 1	Posterior Polymorphous Corneal Dystrophy Ppcd Maumenee Corneal Dystrophy Posterior Polymorphous Corneal Dystrophy 1 PPCD1 Corneal Dystrophy, Hereditary Polymorphous Posterior Corneal Endothelial Dystrophy 1, Autosomal Dominant Schlichting Dystrophy Ched1 Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly Ched1, Formerly Hereditary Polymorphus Posterior Corneal Dystrophy Posterior Polymorphous Dystrophy Hereditary Polymorphous Posterior Corneal Dystrophy Dystrophy, Corneal, Posterior Polymorphous Dystrophy, Corneal, Posterior Polymorphous, Type 1 Polymorphous Corneal Dystrophy Corneal Endothelial Dystrophy 2
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Central Sleep Apnea	Central Sleep Apnea Syndrome Sleep Apnea, Central Primary Central Sleep Apnea Central Sleep Apnea, Primary Central Sleep Apnoea Syndrome Csa - [Central Sleep Apnoea] Csas - [Central Sleep Apnoea Syndrome] Central Sleep Apnoea Due To Substances Including Medications
Advanced Sleep Phase Syndrome	Fasps Familial Advanced Sleep-Phase Syndrome Advanced Sleep Phase Syndrome, Familial Familial Advanced Sleep Phase Syndrome Sleep Phase Syndrome, Advanced, Familial Advanced Sleep-Phase Syndrome, Familial
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09015	NALCN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NALCN	MGD	MGI:2444306
Rattus norvegicus	NALCN	RGD	RGD:628710
Felis catus	NALCN	VGNC	VGNC:63717
Macaca mulatta	NALCN	VGNC	VGNC:74991
Bos taurus	NALCN	VGNC	VGNC:31874
Canis familiaris	NALCN	VGNC	VGNC:43613
Others	NALCN	NCBI