Details for: BSND

Gene ID: 7809

Symbol: BSND

Ensembl ID: ENSG00000162399

Description: barttin CLCNK type accessory subunit beta

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 7.8540
    Cell Significance Index: 134.2600
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 6.1060
    Cell Significance Index: 79.0100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.6111
    Cell Significance Index: 83.6300
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 2.5902
    Cell Significance Index: 35.5200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.2336
    Cell Significance Index: 48.3900
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 2.1624
    Cell Significance Index: 8.2800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 2.1461
    Cell Significance Index: 32.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.1121
    Cell Significance Index: 68.1800
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: 0.7941
    Cell Significance Index: 4.4200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5447
    Cell Significance Index: 103.6500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5219
    Cell Significance Index: 31.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4695
    Cell Significance Index: 12.5800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4528
    Cell Significance Index: 20.5300
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.3919
    Cell Significance Index: 5.6900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2866
    Cell Significance Index: 31.1700
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.2708
    Cell Significance Index: 0.9300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2375
    Cell Significance Index: 3.2400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2038
    Cell Significance Index: 4.3400
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.2006
    Cell Significance Index: 2.5400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1399
    Cell Significance Index: 9.6800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1145
    Cell Significance Index: 11.3300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1074
    Cell Significance Index: 96.9900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0902
    Cell Significance Index: 66.1100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0883
    Cell Significance Index: 14.3600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0566
    Cell Significance Index: 0.9700
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.0374
    Cell Significance Index: 0.3600
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.0342
    Cell Significance Index: 0.3000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0213
    Cell Significance Index: 0.3100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0194
    Cell Significance Index: 0.6800
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: 0.0119
    Cell Significance Index: 0.1300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.0109
    Cell Significance Index: 0.8600
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 0.0080
    Cell Significance Index: 0.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0040
    Cell Significance Index: 0.4700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0036
    Cell Significance Index: 0.0900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0006
    Cell Significance Index: -1.1300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0006
    Cell Significance Index: -0.3200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0007
    Cell Significance Index: -0.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0007
    Cell Significance Index: -1.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0009
    Cell Significance Index: -1.7200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0017
    Cell Significance Index: -0.3600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0020
    Cell Significance Index: -1.4700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0020
    Cell Significance Index: -0.1000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0021
    Cell Significance Index: -0.1000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0024
    Cell Significance Index: -0.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0028
    Cell Significance Index: -1.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0028
    Cell Significance Index: -1.2500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0034
    Cell Significance Index: -2.1700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0034
    Cell Significance Index: -1.2100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0035
    Cell Significance Index: -0.7000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0036
    Cell Significance Index: -0.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0039
    Cell Significance Index: -0.1100
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0054
    Cell Significance Index: -0.0700
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0055
    Cell Significance Index: -0.0500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0056
    Cell Significance Index: -0.5700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0092
    Cell Significance Index: -1.0600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0099
    Cell Significance Index: -1.6900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0117
    Cell Significance Index: -2.1100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0121
    Cell Significance Index: -0.2500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0133
    Cell Significance Index: -0.3300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0147
    Cell Significance Index: -2.1400
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.0182
    Cell Significance Index: -0.2200
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.0185
    Cell Significance Index: -0.3900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0190
    Cell Significance Index: -1.9800
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.0200
    Cell Significance Index: -0.1200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0202
    Cell Significance Index: -0.3000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0212
    Cell Significance Index: -1.4300
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0212
    Cell Significance Index: -0.2100
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: -0.0221
    Cell Significance Index: -0.2100
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: -0.0242
    Cell Significance Index: -0.2700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0245
    Cell Significance Index: -0.6300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0262
    Cell Significance Index: -0.6900
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0262
    Cell Significance Index: -0.2900
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0279
    Cell Significance Index: -0.3800
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.0285
    Cell Significance Index: -0.3800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.0288
    Cell Significance Index: -0.2300
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: -0.0288
    Cell Significance Index: -0.3500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0294
    Cell Significance Index: -0.7500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0314
    Cell Significance Index: -1.1000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0327
    Cell Significance Index: -0.5500
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: -0.0332
    Cell Significance Index: -0.2700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0332
    Cell Significance Index: -1.5600
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0348
    Cell Significance Index: -0.6000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0350
    Cell Significance Index: -0.2700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0368
    Cell Significance Index: -0.9200
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.0372
    Cell Significance Index: -0.5200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0373
    Cell Significance Index: -1.2200
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.0403
    Cell Significance Index: -0.2900
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: -0.0404
    Cell Significance Index: -0.3700
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: -0.0406
    Cell Significance Index: -0.2100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0407
    Cell Significance Index: -1.2000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0411
    Cell Significance Index: -0.9500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0412
    Cell Significance Index: -1.1800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0421
    Cell Significance Index: -1.3400
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: -0.0421
    Cell Significance Index: -0.4600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0443
    Cell Significance Index: -1.9600
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0443
    Cell Significance Index: -0.5800
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: -0.0482
    Cell Significance Index: -0.3900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0499
    Cell Significance Index: -1.4300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0501
    Cell Significance Index: -2.8100
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0517
    Cell Significance Index: -1.0300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Accessory Subunit**: BSND is a accessory subunit of the CLCNK chloride channel, which is a critical component of the chloride transport machinery. 2. **Cellular Expression**: BSND is highly expressed in erythrocytes, hematopoietic stem cells, and various epithelial cells, including those lining the colon and blood vessels. 3. **Ion Transport**: BSND facilitates the movement of chloride ions across cell membranes, regulating cellular functions such as cell volume, ion balance, and neurotransmission. 4. **Protein-Protein Interactions**: BSND interacts with the CLCNK channel, stabilizing its function and enhancing chloride transport. **Pathways and Functions:** 1. **Chloride Transport**: BSND plays a crucial role in regulating chloride transport across cell membranes, influencing cellular functions such as cell volume, ion balance, and neurotransmission. 2. **Ion Channel Transport**: BSND is involved in the transport of chloride ions through ion channels, including the CLCNK channel. 3. **Protein Binding**: BSND interacts with various proteins, including the CLCNK channel, to regulate chloride transport and ion homeostasis. 4. **Stimuli-Sensing Channels**: BSND is involved in the regulation of stimuli-sensing channels, influencing cellular responses to changes in ion concentrations and other signaling pathways. **Clinical Significance:** 1. **Bartter Syndrome**: Mutations in BSND have been linked to Bartter syndrome, a rare genetic disorder characterized by impaired chloride transport and ion imbalances. 2. **Menkes Disease**: BSND mutations have also been associated with Menkes disease, a disorder of copper transport and metabolism. 3. **Other Diseases**: Abnormalities in BSND expression have been linked to other diseases, including epilepsy, neurological disorders, and cancer. 4. **Therapeutic Potential**: Understanding the role of BSND in disease pathogenesis has significant therapeutic implications, highlighting the potential for targeted therapies to modulate chloride transport and ion homeostasis. In conclusion, the BSND gene plays a critical role in maintaining ion homeostasis and regulating cellular functions across various cell types. Abnormalities in BSND expression have been linked to several diseases, highlighting the importance of this gene in maintaining cellular and physiological balance. Further research is needed to fully elucidate the mechanisms underlying BSND function and its role in disease pathogenesis.

Genular Protein ID: 3860190834

Symbol: BSND_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8WZ55 Q6NT28

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 1 ExpressionAtlas 1 GO 7 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11687798

Title: Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

PubMed ID: 11687798

DOI: 10.1038/ng752

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11734858

Title: Barttin is a Cl- channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion.

PubMed ID: 11734858

DOI: 10.1038/35107099

PubMed ID: 12111250

Title: Barttin increases surface expression and changes current properties of ClC-K channels.

PubMed ID: 12111250

DOI: 10.1007/s00424-002-0819-8

PubMed ID: 12761627

Title: Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.

PubMed ID: 12761627

DOI: 10.1007/s00418-003-0535-2

PubMed ID: 16849430

Title: Barttin modulates trafficking and function of ClC-K channels.

PubMed ID: 16849430

DOI: 10.1073/pnas.0601631103

PubMed ID: 18776122

Title: Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

PubMed ID: 18776122

DOI: 10.1681/asn.2008010102

PubMed ID: 20538786

Title: Barttin activates ClC-K channel function by modulating gating.

PubMed ID: 20538786

DOI: 10.1681/asn.2009121274

PubMed ID: 26013830

Title: Human CLC-K channels require palmitoylation of their accessory subunit barttin to be functional.

PubMed ID: 26013830

DOI: 10.1074/jbc.m114.631705

PubMed ID: 12574213

Title: Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.

PubMed ID: 12574213

DOI: 10.1210/jc.2002-021398

PubMed ID: 16328537

Title: A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.

PubMed ID: 16328537

DOI: 10.1007/s00467-005-2091-6

PubMed ID: 16773427

Title: Barttin mutations in antenatal Bartter syndrome with sensorineural deafness.

PubMed ID: 16773427

DOI: 10.1007/s00467-006-0108-4

PubMed ID: 19646679

Title: Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

PubMed ID: 19646679

DOI: 10.1016/j.ajhg.2009.07.003

Sequence Information:

  • Length: 320
  • Mass: 35197
  • Checksum: DED232CAF85AE5AA
  • Sequence:
    • MADEKTFRIG FIVLGLFLLA LGTFLMSHDR PQVYGTFYAM GSVMVIGGII WSMCQCYPKI 
TFVPADSDFQ GILSPKAMGL LENGLAAEMK SPSPQPPYVR LWEEAAYDQS LPDFSHIQMK 
VMSYSEDHRS LLAPEMGQPK LGTSDGGEGG PGDVQAWMEA AVVIHKGSDE SEGERRLTQS 
WPGPLACPQG PAPLASFQDD LDMDSSEGSS PNASPHDREE ACSPQQEPQG CRCPLDRFQD 
FALIDAPTLE DEPQEGQQWE IALPNNWQRY PRTKVEEKEA SDTGGEEPEK EEEDLYYGLP 
DGAGDLLPDK ELGFEPDTQG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.