SCNN1B - sodium channel epithelial 1 subunit beta Gene

Also Known as BESC1; ENaCb; SCNEB; LIDLS1; PHA1B2; ENaCbeta; beta-ENaC; beta-NaCH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6338

About SCNN1B

Cytogenetic location: 16p12.2 Genomic coordinates (GRCh38): 16:23,278,231-23,381,294 (from NCBI)

This gene has 9 transcripts (splice variants), 151 orthologues, 8 paralogues and is associated with 6 phenotypes. Biased expression in esophagus (RPKM 18.7), colon (RPKM 18.2) and 11 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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

SCNN1B Products (2)

mRNA Protein Name
NM_000336.3 NP_000327.2 amiloride-sensitive sodium channel subunit beta isoform 1
NM_001410900.1 NP_001397829.1 amiloride-sensitive sodium channel subunit beta isoform 2
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 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

SCNN1B Protein Structure

ASC

ASC: Amiloride-sensitive sodium channel (29 - 541)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 640 a.a.
Protein Preferred Names Protein Names

amiloride-sensitive sodium channel subunit beta

  • amiloride-sensitive sodium channel subunit beta 1

SCNN1B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SCNN1B P51168 NEDD4 Homo sapiens P46934 21765395
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Liddle Syndrome 1
  • Liddle Syndrome

  • Pseudoaldosteronism

  • Liddle'S Syndrome

  • LIDLS1

  • Lidls

  • Pseudohyperaldosteronism

  • Pseudoprimary Hyperaldosteronism

  • Pseudohyperaldosteronism Type 1

  • Liddles Syndrome

Bronchiectasis With Or Without Elevated Sweat Chloride 1
  • Bronchiectasis With Or Without Elevated Sweat Chloride 1, Modifier Of

  • BESC1

  • Cystic Fibrosis-Like Syndrome

  • Bronchiectasis, With/Without Elevated Sweat Chloride, Type 1, Modifier Of

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

Idiopathic Bronchiectasis
Pseudohypoaldosteronism
Polymyoclonus, Infantile
  • Infantile Polymyoclonus

Otitis Media
  • Opsoclonus-Myoclonus Syndrome

  • OMS

  • Otitis Media, Susceptibility To

  • Kinsbourne Syndrome

  • Otitis Media, Chronic/Recurrent

  • Come/Rom

  • Ataxo-Opso-Myoclonus Syndrome

  • Dancing Eye Syndrome

  • Dancing Eye-Dancing Feet Syndrome

  • Oma Syndrome

  • Opsoclonus Myoclonus Syndrome

  • Opsoclonus-Myoclonus-Ataxia Syndrome

  • Poma Syndrome

  • Paraneoplastic Opsoclonus-Myoclonus

  • Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome

  • Opsoclonus Myoclonus

  • OM

  • {Otitis Media, Susceptibility To}

  • Infectious Otitis Media

Bronchiectasis
  • Polynesian Bronchiectasis

  • Kartagener Syndrome

  • Bronchiectasis Nos

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

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

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

Miliaria Rubra
  • Miliaria

  • Prickly Heat

  • Miliaria Crystallina

Hyperchlorhidrosis, Isolated
  • Isolated Hyperchlorhidrosis

  • HYCHL

  • Carbonic Anhydrase Xii Deficiency

Miliaria
  • Eccrine Miliaria

  • Heat Rash

  • Sweat Rash

  • Sweat Retention Syndrome

Vas Deferens, Congenital Bilateral Aplasia Of
  • Congenital Bilateral Absence Of Vas Deferens

  • CBAVD

  • Cavd

  • Congenital Bilateral Aplasia Of Vas Deferens

  • Congenital Bilateral Absence Of The Vas Deferens

  • Congenital Bilateral Agenesis Of Vas Deferens

  • Absence Of Vas Deferens

  • Absent Vasa

  • Congenital Absence Of Vas Deferens

  • Congenital Aplasia Of Vas Deferens

  • Absent Vas Deferens

  • Vas Deferens, Congenital Bilateral Absence

Renal Tubular Transport Disease
  • Renal Tubular Transport, Inborn Errors

  • Inborn Renal Tubular Transport Disorder

Metabolic Acidosis
Apparent Mineralocorticoid Excess
  • Cortisol 11-Beta-Ketoreductase Deficiency

  • Apparent Mineralocorticoid Excess Syndrome

  • AME

  • Ame1

  • 11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2

  • Ulick Syndrome

  • Mineralocorticoid Excess Syndrome, Apparent

  • Syndrome Of Apparent Mineralocorticoid Excess

  • Ame 1

  • 11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency

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

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

Bartter Disease
  • Bartter Syndrome

  • Bartter'S Syndrome

  • Aldosteronism With Hyperplasia Of The Adrenal Cortex

  • Hypokalemic Alkalosis With Hypercalciuria

  • Potassium Wasting

  • Juxtaglomerular Hyperplasia With Secondary Aldosteronism

  • Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

  • Salt-Losing Tubular Disorder, Henle'S Loop Type

  • Salt-Wasting Tubulopathy, Henle'S Loop Type

  • Bartters Syndrome

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 SCNN1B VGNC VGNC:34356
Rattus norvegicus SCNN1B RGD RGD:3640
Felis catus SCNN1B VGNC VGNC:64930
Mus musculus SCNN1B MGD MGI:104696
Canis familiaris SCNN1B VGNC VGNC:45926
Macaca mulatta SCNN1B VGNC VGNC:76992
Others SCNN1B NCBI