Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | BSND | contributors: mct/npt - updated : 12-01-2007 |
HGNC name | Bartter syndrome, infantile, with sensorineural deafness (Barttin) |
HGNC id | 16512 |
|
EXPRESSION |
Type | restricted |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||
organ(s) |
|
cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
physiological period | fetal |
Text | cochlea (marginal cells of the stria vascularis) |
PROTEIN |
PHYSICAL PROPERTIES | Hydrophilic | |
STRUCTURE |
motifs/domains
| |
| |
| |
|
mono polymer | heteromer , dimer |
HOMOLOGY |
interspecies | homolog to murine Bsnd |
Homologene |
FAMILY |
CATEGORY | transport channel |
SUBCELLULAR LOCALIZATION | plasma membrane |
text |
basic FUNCTION | |
|
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling | sensory transduction/hearing |
a component | forms heteromers : |
| |
|
INTERACTION |
DNA |
RNA |
small molecule |
protein | |
|
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | BSND4 , DFNB73 |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |