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BSND (barttin CLCNK type accessory subunit beta)
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 nameGene Name - the full gene name approved by the HGNC.
Barttin CLCNK type accessory subunit beta
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BSND
SynonymsGene synonyms aliases
BART, DFNB73
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005254 Function Chloride channel activity ISS
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence
Sequence length 320
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Stimuli-sensing channels
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Bartter syndrome Bartter Disease, BARTTER SYNDROME, TYPE 4A rs74315284, rs74315285, rs1389952796, rs74315286, rs74315287, rs74315288, rs74315289, rs121908144, rs121908145, rs121909137, rs121909138, rs121909131, rs121909132, rs121909133, rs121909134, rs121909135, rs779908241, rs121909136, rs104893706, rs137853158, rs137853159, rs774515747, rs1057519608, rs104894244, rs2135941091, rs104894245, rs104894253, rs104894254, rs104894250, rs104894251, rs397514729, rs863224858, rs765347751, rs878854404, rs878854405, rs878854406, rs878854407, rs875989852, rs886039870, rs779588655, rs201707868, rs1057516207, rs185212943, rs1057520300, rs1057520301, rs1057520302, rs1057520303, rs1057520304, rs370221310, rs779593707, rs377205432, rs1555466999, rs953686324, rs768286324, rs746509804, rs771232166, rs1566857461, rs373367600, rs1159737562, rs769554073, rs1570334344, rs201781905, rs377215024, rs755714542, rs1570340095, rs1570341086, rs1180658535, rs764247288, rs865973286, rs1007109925, rs1411280373, rs1380025163, rs758961147 18776122, 9463315, 27234911, 12574213, 23110775, 18833191, 24902942, 21269598, 26537508, 16583241, 12761627, 19096086, 12111250, 11734858, 11687798, 16572343, 16935888, 16328537
Bartter syndrome with sensorineural deafness Infantile Bartter syndrome with sensorineural deafness rs1191726071
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hydrops fetalis Hydrops Fetalis rs28935477, rs1131691986
Unknown
Disease name Disease term dbSNP ID References
Allergic rhinitis Allergic rhinitis (disorder) 25085501
Hypernatriuria Hypernatriuria
Hypochloremia Hypochloremia (disorder)
Hypokalemia Hypokalemic hypochloremic metabolic alkalosis

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