SCNN1A - sodium channel epithelial 1 subunit alpha Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6337

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables WW domain binding	IPI IPI: Inferred from physical interaction	10642508	GOA
contributes to ligand-gated sodium channel activity	IDA IDA: Inferred from direct assay	24124190	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11244092	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in cellular response to acidic pH	IDA IDA: Inferred from direct assay	16423824	GOA
involved in intracellular sodium ion homeostasis	IDA IDA: Inferred from direct assay	16423824	GOA
involved in multicellular organismal-level water homeostasis	IDA IDA: Inferred from direct assay	24124190	GOA
involved in sodium ion homeostasis	IDA IDA: Inferred from direct assay	24124190	GOA
involved in sodium ion import across plasma membrane	IDA IDA: Inferred from direct assay	16423824	GOA
involved in sodium ion transmembrane transport	IDA IDA: Inferred from direct assay	24124190	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	22207244	GOA
located in ciliary membrane	IDA IDA: Inferred from direct assay	22207244	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	28130590	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	15326289	GOA
located in motile cilium	IDA IDA: Inferred from direct assay	22207244	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	24124190	GOA
part of sodium channel complex	IDA IDA: Inferred from direct assay	16423824	GOA
part of sodium channel complex	IPI IPI: Inferred from physical interaction	21775436	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

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

SCNN1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	SCNN1A	P37088	SCNN1G	Homo sapiens	P51170	Anti Tag CoIP	21775436
Intra	SCNN1A	P37088	SCNN1G	Homo sapiens	P51170	AFM	21775436

Cross: Cross-species interaction Intra: Intraspecies interaction

SCNN1A Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P81204	Alpha-ENaC Antibody	WB, ELISA, IHC-P, IHC-F, FC, ICC/IF	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS12552	SCNN1A Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SCNN1A	NCBI