Barttin - CISMeF

Preferred Label : Barttin;

NCIt synonyms : BSND; Barttin CLCNK-Type Chloride Channel Accessory Beta Subunit;

NCIt definition : Barttin (320 aa, 35 kDa) is encoded by the human BSND gene. This protein is involved in chloride transport.;

NCIt note : Barttin forms heteromers with chloride channel protein ClC-Ka (CLCNKA) in the thin ascending limb of the loop of Henle and with chloride channel protein ClC-Kb (CLCNKB) in the thick ascending limb and more distal segments of the loop of Henle. (UniProt);

Details

Origin ID

C140244;

UMLS CUI

C1448189;

Automatic exact mappings (from CISMeF team)
- Bartter disease type 4a [DO Concept]
- Bartter syndrome, type 4a, neonatal, with sensorineural deafness [OMIM Phenotype]
- Barttin clcnk-type accessory subunit beta [OMIM gene]
- barttin CLCNK type accessory subunit beta [ORDO Gene]
OMIM relation
- Barttin clcnk-type accessory subunit beta [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- BSND protein, human [MeSH Supplementary Concept]
- BSND protein, human [MeSH concept]
gene_encodes_gene_product
- BSND Gene [NCIt concept]
- Ion Channel Protein Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_expressed_in_tissue
- Henle's Loop [NCIt concept]
- Inner Ear [NCIt concept]
- Nephron [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Ion Channel [NCIt concept]
- Plasma Membrane [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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