SCNN1A - sodium channel epithelial 1 subunit alpha Gene

Homo sapiens

Also known as BESC2; ENaCa; SCNEA; SCNN1; LIDLS3; PHA1B1; ENaCalpha

Gene ID: 6337 | Gene type: protein coding

About SCNN1A

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,346,847-6,377,359 (from NCBI)

This gene has 23 transcripts (splice variants), 152 orthologues, 8 paralogues and is associated with 7 phenotypes. Broad expression in kidney (RPKM 50.6), colon (RPKM 38.2) and 15 other tissues.

Summary

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

SCNN1A Products(3)

mRNA	Protein	Name
NM_001038.6	NP_001029.1	amiloride-sensitive sodium channel subunit alpha isoform 1
NM_001159575.2	NP_001153047.1	amiloride-sensitive sodium channel subunit alpha isoform 3
NM_001159576.2	NP_001153048.1	amiloride-sensitive sodium channel subunit alpha isoform 2

SCNN1A Protein Structure

ASC

0
200
400
600
669 a.a.

Protein Preferred Names

Protein Names

amiloride-sensitive sodium channel subunit alpha

alpha ENaC-2

Related Diseases

Diseases

Alias

Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1	PHA1B
Pseudohypoaldosteronism Type 1	Pseudohypoaldosteronism, Type I
Generalized Pha1	Generalized Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism Type 1 Autosomal Recessive	Pha1
Pseudohypoaldosteronism	Pha I, Autosomal Recessive
Autosomal Recessive Pha 1	Pseudohypoaldosteronism Type 1, Recessive
Pseudohypoaldosteronism Type I	Autosomal Recessive Pha1
Pha Type 1	Pseudohypoaldosteronism 1, Autosomal Recessive
Multisystem Pseudohypoaldosteronism	Pha Type I, Autosomal Recessive
Pseudohypoaldosteronism Type I, Autosomal Recessive

Liddle Syndrome 3

LIDLS3

Bronchiectasis With Or Without Elevated Sweat Chloride 2

BESC2	Cystic Fibrosis-Like Syndrome
Bronchiectasis, With/Without Elevated Sweat Chloride, Type 2

Idiopathic Bronchiectasis

Pseudohypoaldosteronism

Liddle Syndrome 1

Liddle Syndrome	Pseudoaldosteronism
Liddle'S Syndrome	LIDLS1
Lidls	Pseudohyperaldosteronism
Pseudoprimary Hyperaldosteronism	Pseudohyperaldosteronism Type 1
Liddles Syndrome

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Miliaria Rubra

Miliaria	Prickly Heat
Miliaria Crystallina

Chronic Tubotympanic Suppurative Otitis Media

Chronic Tubotympanic Disease

Benign Chronic Suppurative Otitis Media

Chronic Atticoantral Disease

Chronic Atticoantral Suppurative Otitis Media	Persistent Mucosal Disease
Chronic Atticoantral Disorder

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Hyperchlorhidrosis, Isolated

Isolated Hyperchlorhidrosis	HYCHL
Carbonic Anhydrase Xii Deficiency

Miliaria

Eccrine Miliaria	Heat Rash
Sweat Rash	Sweat Retention Syndrome

Pseudohypoaldosteronism, Type I, Autosomal Dominant

Autosomal Dominant Pseudohypoaldosteronism Type 1	PHA1A
Pseudohypoaldosteronism Type I, Autosomal Dominant	Pseudohypoaldosteronism Type 1 Autosomal Dominant
Renal Pha1	Renal Pseudohypoaldosteronism Type 1
Pha I, Autosomal Dominant	Autosomal Dominant Pha 1
Pseudohypoaldosteronism Type 1, Dominant	Autosomal Dominant Pha1
Pseudohypoaldosteronism 1, Autosomal Dominant	Pha Type I, Autosomal Dominant

3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MCC2D	Mcc2 Deficiency
3-Methylcrotonyl Coa Carboxylase 2 Deficiency	3-Methylcrotonylglycinuria Ii
Methylcrotonylglycinuria, Type Ii	3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency
3-Methylcrotonylglycinuria Type Ii	Mcgii
Methylcrotonylglycinuria Type Ii

Metabolic Acidosis

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia	Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Congenital Lipoid Adrenal Hyperplasia	Lipoid Cah
Lipoid Adrenal Hyperplasia	Adrenal Hyperplasia 1
Cah	Clah
LCAH	Adrenal Hyperplasia I
Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism	Congenital Adrenal Hyperplasia Lipoid
Adrenal Hyperplasia, Congenital	Congenital Adrenal Hyperplasia, Lipoid
AH1	Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism
Adrenal Hyperplasia Congenital	Hyperplasia, Adrenal, Lipoid, Congenital
Congenital Adrenogenital Disorders Associated With Enzyme Deficiency	Congenital Adrenal Cortical Hyperplasia
Congenital Adrenal Gland Hyperplasia	Congenital Adrenogenital Syndrome
Congenital Hyperadrenocorticism	Congenital Adrenogenitalism
Congenital Female Adrenal Pseudohermaphroditism

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

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-RS12552	SCNN1A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SCNN1A	VGNC	VGNC:97617
Bos taurus	SCNN1A	VGNC	VGNC:49961
Canis familiaris	SCNN1A	VGNC	VGNC:45925
Rattus norvegicus	SCNN1A	RGD	RGD:3639
Macaca mulatta	SCNN1A	VGNC	VGNC:76991
Mus musculus	SCNN1A	MGD	MGI:101782

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