SCNN1G - sodium channel epithelial 1 subunit gamma Gene

Also Known as PHA1; BESC3; ENaCg; LDLS2; SCNEG; PHA1B3; ENaCgamma

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6340

About SCNN1G

Cytogenetic location: 16p12.2 Genomic coordinates (GRCh38): 16:23,182,745-23,216,883 (from NCBI)

This gene has 1 transcript (splice variant), 155 orthologues, 8 paralogues and is associated with 6 phenotypes. Biased expression in kidney (RPKM 29.9), salivary gland (RPKM 4.7) and 5 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 gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]

SCNN1G Products (1)

mRNA	Protein	Name
NM_001039.4	NP_001030.2	amiloride-sensitive sodium channel subunit gamma

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	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 monoatomic ion channel activity	IMP IMP: Inferred from mutant phenotype	22864553	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11244092	GOA

Biological Process GO Annotation	Evidence	References	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	References	Source
located in extracellular exosome	IDA IDA: Inferred from direct assay	15326289	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

SCNN1G Protein Structure

ASC

0
100
200
300
400
500
600
649 a.a.

Protein Preferred Names	Protein Names
amiloride-sensitive sodium channel subunit gamma	ENaC gamma subunit

SCNN1G Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SCNN1G	P51170	SCNN1A	Homo sapiens	P37088	Anti Bait CoIP	16423824

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Bronchiectasis With Or Without Elevated Sweat Chloride 3	BESC3 Cystic Fibrosis-Like Syndrome Bronchiectasis, With/Without Elevated Sweat Chloride, Type 3
Liddle Syndrome 2	LIDLS2
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 1	Liddle Syndrome Pseudoaldosteronism Liddle'S Syndrome LIDLS1 Lidls Pseudohyperaldosteronism Pseudoprimary Hyperaldosteronism Pseudohyperaldosteronism Type 1 Liddles Syndrome
Idiopathic Bronchiectasis
Pseudohypoaldosteronism
Miliaria Rubra	Miliaria Prickly Heat Miliaria Crystallina
Miliaria	Eccrine Miliaria Heat Rash Sweat Rash Sweat Retention Syndrome
Bronchiectasis	Polynesian Bronchiectasis Kartagener Syndrome Bronchiectasis Nos
Metabolic Acidosis
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
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
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Hyperchlorhidrosis, Isolated	Isolated Hyperchlorhidrosis HYCHL Carbonic Anhydrase Xii Deficiency
Corticosterone Methyloxidase Type I Deficiency	Cmo I Deficiency Aldosterone Deficiency I Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase 18-Hydroxylase Deficiency Hypoaldosteronism, Congenital, Due To Cmo I Deficiency Corticosterone Methyloxidase Deficiency 1 Corticosterone Methyloxidase Type 1 Deficiency Hyperreninemic Hypoaldosteronism, Familial, 1 Fhha1a Steroid 18-Hydroxylase Deficiency Aldosterone Synthase Deficiency 18 Hydroxylase Deficiency 18 Alpha Hydroxylase Deficiency Aldosterone Deficiency 1 Aldosterone Deficiency Due To Defect In 18 Hydroxylase Cmo 1 Deficiency Corticosterone Methyloxidase 1 Deficiency CMO-1 DEFICIENCY Aldosterone Deficiency Due To Defect In 18-Hydroxylase Corticosterone Methyl Oxidase Type I Deficiency Corticosterone Methyl Oxidase Type Ii Deficiency
Bartter Syndrome, Type 2, Antenatal	Bartter Disease Type 2 BARTS2 Hyperprostaglandin E Syndrome 2 Bartter Syndrome, Type 2 Bartter Syndrome Type 2 Hypokalemic Alkalosis With Hypercalciuria Antenatal 2 Hypokalemic Alkalosis With Hypercalciuria 2, Antenatal Bartter Syndrome Type 2 Antenatal Hypokalemic Alkalosis With Hypercalciuria 2 Antenatal Bartter Syndrome Antenatal Type 2 Bartter Syndrome Type Ii Bartter Syndrome 2, Antenatal Abs2 Antenatal Bartter Syndrome 2 Bartter Syndrome 2 Bs2 Hyperprostanglandin E Syndrome 2 Bartter Syndrome, Antenatal , Type 2 Antley-Bixler Syndrome, Autosomal Dominant
Arthrogryposis, Distal, Type 3	Gordon Syndrome DA3 Distal Arthrogryposis Type 3 Arthrogryposis Multiplex Congenita, Distal, Type Iia Camptodactyly, Cleft Palate, And Clubfoot Camptodactyly-Cleft Palate-Clubfoot Syndrome Distal Arthrogryposis Multiplex Congenita Type Iia Arthrogryposis Distal Type 3 Distal Arthrogryposis Type Iia Arthrogryposis, Distal, 3 Pseudohypoaldosteronism, Type Ii
Steroid Inherited Metabolic Disorder	Steroid Metabolism, Inborn Errors
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Hyperaldosteronism, Familial, Type I	Glucocorticoid-Remediable Aldosteronism Gra Familial Hyperaldosteronism Type 1 Hyperaldosteronism, Familial Type 1 HALD1 Fh I Glucocorticoid-Suppressible Hyperaldosteronism Gsh Acth-Dependent Hyperaldosteronism Syndrome Aldosteronism, Glucocorticoid-Remediable Dexamethasone Sensitive Hypertension Glucocorticoid Sensitive Hypertension Familial Hyperaldosteronism Type I Fh1 Aldosteronism, Sensitive To Dexamethasone Dexamethasone-Sensitive Hypertension Fh-I Glucocorticoid-Sensitive Hypertension Hyperaldosteronism, Familial, 1 Aldosteronism Sensitive To Dexamethasone Familial Hyperaldosteronism 1 Fh Type 1 Familial Aldosteronism Type I
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
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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12555	SCNN1G Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SCNN1G	VGNC	VGNC:34358
Rattus norvegicus	SCNN1G	RGD	RGD:3641
Mus musculus	SCNN1G	MGD	MGI:104695
Macaca mulatta	SCNN1G	VGNC	VGNC:76994
Felis catus	SCNN1G	VGNC	VGNC:64931
Canis familiaris	SCNN1G	VGNC	VGNC:45928