1. Gene
  2. SCNN1B - sodium channel epithelial 1 subunit beta Gene

SCNN1B - sodium channel epithelial 1 subunit beta Gene

中文名称:钠通道上皮 1 亚基 β

种属: Homo sapiens

同用名: BESC1; ENaCb; SCNEB; LIDLS1; PHA1B2; ENaCbeta; beta-ENaC; beta-NaCH

基因 ID: 6338 | 基因类型: protein coding

关于 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.

功能概要

非电压门控、阿米洛利敏感的钠通道控制液体和电解质在许多器官中跨上皮细胞的转运。这些通道是由 3 个亚基组成的异聚复合物:α、β 和γ。该基因编码 β 亚基,该基因的突变与 1 型假性醛固酮减少症 (PHA1) 和 Liddle 综合征有关。[RefSeq 提供,2009 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables WW domain binding IPI
IPI: 通过物理相互作用推断
10642508 GOA
contributes to ligand-gated sodium channel activity IDA
IDA: 通过直接分析推断
24124190 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11244092 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to acidic pH IDA
IDA: 通过直接分析推断
16423824 GOA
involved in intracellular sodium ion homeostasis IDA
IDA: 通过直接分析推断
16423824 GOA
involved in multicellular organismal-level water homeostasis IDA
IDA: 通过直接分析推断
24124190 GOA
involved in sodium ion homeostasis IDA
IDA: 通过直接分析推断
24124190 GOA
involved in sodium ion import across plasma membrane IDA
IDA: 通过直接分析推断
16423824 GOA
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
24124190 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular exosome IDA
IDA: 通过直接分析推断
15326289 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24124190 GOA
part of sodium channel complex IDA
IDA: 通过直接分析推断
16423824 GOA
part of sodium channel complex IPI
IPI: 通过物理相互作用推断
21775436 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SCNN1B 蛋白结构

ASC

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

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  • 640 a.a.
蛋白主名 其他名称

amiloride-sensitive sodium channel subunit beta

amiloride-sensitive sodium channel subunit beta 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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