1. Gene
  2. SCNN1G - sodium channel epithelial 1 subunit gamma Gene

SCNN1G - sodium channel epithelial 1 subunit gamma Gene

Homo sapiens

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

Gene ID: 6340 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

ASC: Amiloride-sensitive sodium channel (32 - 553)

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  • 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 Reference
Intra
SCNN1G P51170 SCNN1A Homo sapiens P37088 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

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