BSND - barttin CLCNK type accessory subunit beta Gene

Also Known as BART; DFNB73

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7809

About BSND

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:54,998,933-55,017,172 (from NCBI)

This gene has 1 transcript (splice variant), 116 orthologues and is associated with 4 phenotypes. Restricted expression toward kidney (RPKM 9.3).

Summary

This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]

BSND Products (1)

mRNA	Protein	Name
NM_057176.3	NP_476517.1	barttin

BSND Protein Structure

Barttin

0
100
200
300
320 a.a.

Protein Preferred Names	Protein Names
barttin	Bartter syndrome, infantile, with sensorineural deafness (Barttin)

BSND Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BSND	Q8WZ55	CERT1	Homo sapiens	Q9Y5P4-2	Validated Y2H	32296183
Intra	BSND	Q8WZ55	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	BSND	Q8WZ55	PLSCR2	Homo sapiens	Q9NRY7	Validated Y2H	32296183
Intra	BSND	Q8WZ55	RNF11	Homo sapiens	Q9Y3C5	Y2H Array	32814053
Intra	BSND	Q8WZ55	RNF11	Homo sapiens	Q9Y3C5	Validated Y2H	32814053
Intra	BSND	Q8WZ55	RNF11	Homo sapiens	Q9Y3C5	Y2H Pooling	32814053
Intra	BSND	Q8WZ55	APOL2	Homo sapiens	Q9BQE5	Validated Y2H	32296183
Intra	BSND	Q8WZ55	HIP1	Homo sapiens	O00291	Validated Y2H	32814053
Intra	BSND	Q8WZ55	HIP1	Homo sapiens	O00291	Y2H Array	32814053
Intra	BSND	Q8WZ55	HIP1	Homo sapiens	O00291	Y2H Pooling	32814053
Intra	BSND	Q8WZ55	TBRG4	Homo sapiens	Q969Z0	Validated Y2H	32296183
Intra	BSND	Q8WZ55	MYG1	Homo sapiens	Q9HB07	Validated Y2H	32296183
Intra	BSND	Q8WZ55	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	BSND	Q8WZ55	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	BSND	Q8WZ55	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	BSND	Q8WZ55	STX8	Homo sapiens	Q9UNK0	Validated Y2H	32296183
Intra	BSND	Q8WZ55	PBX3	Homo sapiens	Q96AL5	Validated Y2H	32296183
Intra	BSND	Q8WZ55	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
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
Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
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
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
Renal Tubular Transport Disease	Renal Tubular Transport, Inborn Errors Inborn Renal Tubular Transport Disorder
Diabetes Insipidus
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 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
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Fhhnc With Severe Ocular Involvement Renal Hypomagnesemia 5 With Ocular Involvement Meier Blumberg Imahorn Syndrome HOMG5 Hypomagnesemia, Renal, With Ocular Involvement Hypomagnesemia 5, Renal, With Ocular Involvement Familial Hypomagnesemia With Hypercalciuria, Nephrocalcinosis And Severe Ocular Involvement Hypercalciuria-Bilateral Macular Coloboma Syndrome Meier-Blumberg-Imahorn Syndrome Hypomagnesemia, Familial, With Hypercalciuria, Nephrocalcinosis, And Severe Ocular Involvement Macular Coloboma, Bilateral, With Hypercalciuria Bilateral Macular Coloboma With Hypercalciuria Idiopathic Hypercalciuria With Bilateral Macular Colobomata Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement Hypomagnesemia 5 Hypomagnesemia 5 Renal With Ocular Involvement Hypomagnesemia Renal With Ocular Involvement Macular Coloboma Bilateral With Hypercalciuria Hypomagnesemia, Type 5, Renal, With Ocular Involvement
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
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
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
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
Primary Hypomagnesemia	Familial Primary Hypomagnesemia Homg Primary Familial Hypomagnesemia Genetic Primary Hypomagnesemia Hypomagnesemia 1, Intestinal
Polyhydramnios
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
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
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
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Megalencephalic Leukoencephalopathy With Subcortical Cysts	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts Mlc Van Der Knaap Disease Lvm Leukoencephalopathy With Swelling And Cysts Megalencephaly-Cystic Leukodystrophy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome Infantile Leukoencephalopathy And Megalencephaly Leukoencephalopathy With Swelling And A Discrepantly Mild Course Vacuolating Leukoencephalopathy Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystrophy Syndrome Van Der Knaap Syndrome Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
Liddle Syndrome 1	Liddle Syndrome Pseudoaldosteronism Liddle'S Syndrome LIDLS1 Lidls Pseudohyperaldosteronism Pseudoprimary Hyperaldosteronism Pseudohyperaldosteronism Type 1 Liddles Syndrome

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-RS01645	BSND Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BSND	MGD	MGI:2153465
Macaca mulatta	BSND	VGNC	VGNC:70328
Felis catus	BSND	VGNC	VGNC:60189
Bos taurus	BSND	VGNC	VGNC:26579
Canis familiaris	BSND	VGNC	VGNC:38540
Rattus norvegicus	BSND	RGD	RGD:621139
Others	BSND	NCBI