NALCN - sodium leak channel, non-selective Gene

Homo sapiens

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

Gene ID: 259232 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

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