Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7809
Gene name Gene Name - the full gene name approved by the HGNC.	Barttin CLCNK type accessory subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BSND
Synonyms (NCBI Gene) Gene synonyms aliases	BART, DFNB73
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p32.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 Ba

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315284	A>T	Pathogenic	Missense variant, initiator codon variant
rs74315285	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315286	G>A	Likely-pathogenic	Missense variant, initiator codon variant
rs74315287	G>A	Pathogenic	Missense variant, coding sequence variant
rs74315288	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs74315289	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908144	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121908145	G>A,C,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs141403253	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143711308	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147394986	C>T	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs150426464	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201342416	A>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs754819005	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs765135576	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs771232166	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant

Show/Hide all(87)

miRTarBase ID	miRNA	Experiments	Reference
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT722313	hsa-miR-1295a	HITS-CLIP	19536157
MIRT619071	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT619065	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT669339	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT669338	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT669336	hsa-miR-2114-3p	HITS-CLIP	23824327
MIRT669335	hsa-miR-6823-3p	HITS-CLIP	23824327
MIRT669333	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669334	hsa-miR-7977	HITS-CLIP	23824327
MIRT669332	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT669331	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT669330	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT669329	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT669328	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT619071	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619065	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT669337	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT722313	hsa-miR-1295a	HITS-CLIP	19536157
MIRT619071	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT619065	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT669339	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT669338	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT669336	hsa-miR-2114-3p	HITS-CLIP	23824327
MIRT669335	hsa-miR-6823-3p	HITS-CLIP	23824327
MIRT669333	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669334	hsa-miR-7977	HITS-CLIP	23824327
MIRT669332	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT669331	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT669330	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT669329	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT669328	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT619071	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619065	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT826133	hsa-miR-15a	CLIP-seq
MIRT826134	hsa-miR-15b	CLIP-seq
MIRT826135	hsa-miR-16	CLIP-seq
MIRT826136	hsa-miR-195	CLIP-seq
MIRT826137	hsa-miR-214	CLIP-seq
MIRT826138	hsa-miR-3180-5p	CLIP-seq
MIRT826139	hsa-miR-3619-5p	CLIP-seq
MIRT826140	hsa-miR-424	CLIP-seq
MIRT826141	hsa-miR-4291	CLIP-seq
MIRT826142	hsa-miR-497	CLIP-seq
MIRT826143	hsa-miR-520a-5p	CLIP-seq
MIRT826144	hsa-miR-525-5p	CLIP-seq
MIRT826145	hsa-miR-761	CLIP-seq
MIRT826146	hsa-miR-922	CLIP-seq
MIRT2384891	hsa-miR-3678-3p	CLIP-seq
MIRT2384892	hsa-miR-450b-5p	CLIP-seq
MIRT2384893	hsa-miR-507	CLIP-seq
MIRT2384894	hsa-miR-557	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	ISS
GO:0005515	Function	Protein binding	IPI	12111250, 32296183, 32814053
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006821	Process	Chloride transport	IBA
GO:0006821	Process	Chloride transport	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	18776122
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0017081	Function	Chloride channel regulator activity	IBA
GO:0017081	Function	Chloride channel regulator activity	IDA	12111250
GO:0017081	Function	Chloride channel regulator activity	IEA
GO:0017081	Function	Chloride channel regulator activity	IMP	18776122
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
606412	16512	ENSG00000162399

Protein

UniProt ID

Q8WZ55

Protein name

Barttin

Protein function

Regulatory subunit of anion-selective CLCNKA:BSND and CLCNKB:BSND heteromeric channels involved in basolateral chloride conductance along the nephron to achieve urine concentration and maintain systemic acid-base homeostasis, and in the stria va

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15462	Barttin	27 → 251	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear. {ECO:0000269|PubMed:11687798}.

Sequence

MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKI
TFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMK
VMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQS
WPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLP
DGAGDLLPDKELGFEPDTQG

Sequence length

320

Interactions

View interactions

	Reactome
			Stimuli-sensing channels

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
bartter syndrome	Bartter syndrome	rs121908144, rs74315286, rs74315287, rs1007109925, rs74315289, rs74315285	N/A
Bartter syndrome	Bartter disease type 4A	rs74315286, rs121908145, rs74315287, rs771232166, rs74315288, rs1007109925, rs74315289, rs74315284, rs74315285, rs121908144, rs1389952796	N/A
hearing impairment	Hearing impairment	rs121908145	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs74315289, rs121908144	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Diabetes	Chronic kidney disease and diabetic kidney disease in type 2 diabetes	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenolymphoma	Associate	28470573
Adenoma Oxyphilic	Stimulate	28470573
Bartter Syndrome	Associate	15167890, 16583241, 19646679, 28334417
Bartter syndrome type 3	Associate	16583241, 19646679, 21541222, 26537508, 29674316
Carcinoma Renal Cell	Associate	26091477, 28470573
Deafness	Associate	15167890, 19646679, 21541222, 24949729
Hearing Loss Sensorineural	Associate	16583241, 29674316
Hypertension	Associate	17652939
Kidney Diseases	Associate	19646679, 21541222
Kidney Neoplasms	Associate	28470573
Muscle Hypotonia	Associate	16583241
Nonsyndromic Deafness	Associate	19646679, 21541222
Oncocytoma renal	Associate	26091477, 28470573
Polyhydramnios	Associate	16583241
Renal Insufficiency	Associate	19646679
Salivary Gland Neoplasms	Associate	28470573
Taste Disorders	Associate	29674316

BSND (barttin CLCNK type accessory subunit beta)