CLCNKB - chloride voltage-gated channel Kb Gene

Also Known as CLCKB; ClC-K2; ClC-Kb

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1188

About CLCNKB

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,043,782-16,057,326 (from NCBI)

This gene has 15 transcripts (splice variants), 116 orthologues, 8 paralogues and is associated with 6 phenotypes. Biased expression in kidney (RPKM 65.3), salivary gland (RPKM 9.9) and 1 other tissue.

Summary

The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

CLCNKB Products (2)

mRNA	Protein	Name
NM_000085.5	NP_000076.2	chloride channel protein ClC-Kb isoform 1
NM_001165945.2	NP_001159417.2	chloride channel protein ClC-Kb isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chloride channel activity	IDA IDA: Inferred from direct assay	12111250	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12111250	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in renal sodium ion absorption	IMP IMP: Inferred from mutant phenotype	9326936	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	18776122	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

CLCNKB Protein Structure

Voltage_CLC

CBS

0
200
400
600
687 a.a.

Protein Preferred Names	Protein Names
chloride channel protein ClC-Kb	chloride channel, kidney, B

Related Diseases

Diseases	Alias
Bartter Syndrome, Type 3	Bartter Disease Type 3 BARTS3 Bartter Syndrome Type 3 Bartter Syndrome, Classic Classic Bartter Syndrome Bartter Syndrome Classic Bartter Syndrome Type Iii Bartter Syndrome 3
Bartter Syndrome, Type 4b, Neonatal, With Sensorineural Deafness	BARTS4B Bartter Syndrome, Type 4b, Digenic Bartter Disease Type 4b Neonatal Bartter Syndrome Type 4b With Sensorineural Deafness Bartter Syndrome 4b, Neonatal, With Sensorineural Deafness Bartter Syndrome 4b Bsnd Infantile Bartter Syndrome With Sensorineural Deafness Bartter Syndrome, Type 4b Bartter Syndrome, Type 4a
Epilepsy, Familial Focal, With Variable Foci 1	Ffevf Familial Focal Epilepsy With Variable Foci Epilepsy, Partial, With Variable Foci Familial Partial Epilepsy With Variable Foci FFEVF1 Fpevf Partial Epilepsy With Variable Foci Epilepsy, Familial Focal, With Variable Foci Epilepsy, Familial Focal, With Variable Foci, Type 1
Gitelman Syndrome	Familial Hypokalemia-Hypomagnesemia Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria Potassium And Magnesium Depletion GTLMNS Gitelman'S Syndrome Gs Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria Bartter Syndrome Gitelman Variant Bartter Syndrome Hypocalciuric Variant Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness	Bsnd Sensorineural Deafness With Mild Renal Dysfunction Bartter Disease Type 4a BARTS4A Bartter Syndrome, Type 4a Bartter Syndrome Type 4 Bartter Syndrome, Neonatal, With Sensorineural Deafness Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type 4a Neonatal Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type Iv Bartter Syndrome With Sensorineural Hearing Loss Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness Hyperprostanglandin E Syndrome 4 Hypokalemic Alkalosis With Hypercalciuria Antenatal 4 Infantile Bartter Syndrome With Sensorineural Deafness
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
Nephrocalcinosis	Hypercalcemic Nephropathy
Dent Disease 1	Dent Disease Dent'S Disease Dent Disease 2 Dent Disease Type 1 DENT1 Urolithiasis, Hypercalciuric, X-Linked Nephrolithiasis 2 Nphl2 Dent Syndrome Dents Disease Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets X-Linked Recessive Nephrolithiasis Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones Nephrolithiasis, Hypercalciuric, X-Linked Nephrolithiasis-Hypercalciuria X-Linked Recessive Nephrolithiasis, X-Linked Recessive Dent Disease, Type 1
Polyhydramnios
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
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
Diabetes Insipidus
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
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Sesame Syndrome East Syndrome SESAMES Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Epilepsy Ataxia Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
Deafness, Autosomal Recessive 96	DFNB96 Autosomal Recessive Nonsyndromic Deafness 96 Autosomal Recessive Deafness 96
Bartter Syndrome, Type 1, Antenatal	Hyperprostaglandin E Syndrome 1 Bartter Disease Type 1 BARTS1 Bartter Syndrome, Type 1 Bartter Syndrome Type 1 Hypokalemic Alkalosis With Hypercalciuria Antenatal 1 Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal Bartter Syndrome Type 1 Antenatal Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal Bartter Syndrome Antenatal Type 1 Antenatal Bartter Syndrome Type 1 Bartter Syndrome Type I Bartter Syndrome 1, Antenatal Abs1 Antenatal Bartter Syndrome 1 Bs1 Bartter Syndrome, Antenatal Type 1 Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Diarrhea 1, Secretory Chloride, Congenital	DIAR1 Chloride Diarrhea, Congenital, Finnish Type Congenital Secretory Chloride Diarrhea 1 Congenital Chloride Diarrhea Finnish Type Congenital Chloride Diarrhea Chloridorrhea, Congenital Congenital Chloride Diarrhoea Finnish Type Congenital Chloridorrhea Congenital Secretory Chloride Diarrhoea 1 Chloridorrhea Congenital Cld Diarrhea 1 Secretory Chloride Congenital Diarrhea, Type 1, Chloride, Secretory, Congenital
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
Myotonia Congenita	Congenital Myotonia, Autosomal Dominant Form Congenital Myotonia Thomsen And Becker Disease Thomsen Disease Thomsen'S Disease Generalized Myotonia Of Thomsen Congenital Myotonic Muscular Dystrophy Myotonia Congenita Nos
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Diabetes Insipidus, Neurohypophyseal	Neurohypophyseal Diabetes Insipidus Cdi Pituitary Diabetes Insipidus Vasopressin Defective Diabetes Insipidus Vasopressin Deficiency Central Diabetes Insipidus Diabetes Insipidus, Neurogenic Diabetes Insipidus, Primary Central Diabetes Insipidus, Cranial Type Diabetes Insipidus Secondary To Vasopressin Deficiency Diabetes Insipidus, Central Diabetes Insipidus, Pituitary NDI Diabetes Insipidus Cranial Type Neurogenic Diabetes Insipidus Primary Central Diabetes Insipidus
Liddle Syndrome 1	Liddle Syndrome Pseudoaldosteronism Liddle'S Syndrome LIDLS1 Lidls Pseudohyperaldosteronism Pseudoprimary Hyperaldosteronism Pseudohyperaldosteronism Type 1 Liddles Syndrome
Nephrogenic Diabetes Insipidus	Vasopressin-Resistant Diabetes Insipidus Diabetes Insipidus, Nephrogenic Diabetes Insipidus Nephrogenic Congenital Nephrogenic Diabetes Insipidus Adh Resistant Diabetes Insipidus Diabetes Insipidus Nephrogenic X-Linked Diabetes Insipidus Nephrogenic Type 1 Adh-Resistant Diabetes Insipidus Diabetes Insipidus Renalis Ndi Renal Diabetes Insipidus Familial Nephrogenic Diabetes Antidiuretic-Hormone-Resistant Diabetes Insipidus Adiuretin-Resistant Diabetes Insipidus Ndi - [Nephrogenic Diabetes Insipidus] Diabetes Tenuifluus Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus Hereditary Nephrogenic Diabetes Insipidus Familial Nephrogenic Diabetes Insipidus Primary Nephrogenic Diabetes Insipidus
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
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

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-RS02761	CLCNKB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CLCNKB	RGD	RGD:628639
Others	CLCNKB	NCBI