H-Inv ID |
HIT000337451 |
H-Inv cluster ID |
HIX0028661
|
H-Inv protein ID |
HIP000024631
|
Accession number |
BC103899.1
|
CAGE tag ID |
NA
|
EST ID |
NA
|
Genomic location
|
Chromosome |
1 |
Location |
1p32.3
|
Position |
55464638-
55474454
|
Strand |
+
|
Transcript feature
|
NO;
|
Coding potential
|
Protein coding;
|
Definition |
Barttin; |
Similarity category
|
Category: Identical to known human protein(Category I).
|
Identical to known human protein (Q8WZ55)
[Identity/coverage = 100.0%/100.0%] to
Homo sapiens (Human). protein.
|
Gene family / group |
NA
|
Gene symbol/name |
HGNC symbol |
BSND
|
HGNC aliases |
"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"
|
HGNC name |
barttin CLCNK-type chloride channel accessory beta subunit
|
DDBJ |
BSND
|
UniProt |
BSND
|
EC number |
NA
|
KEGG metabolic pathway |
NA
|
PubMed ID |
11687798;
11734858;
12111250;
12574213;
12761627;
15489334;
ALL;
|
Related H-InvDB links |
Similarity Search Tool
|
Database links |
RefSeq |
NA
|
Ensembl |
NA
|
Entrez Gene |
Entrez Gene ID:7809;
|
KEGG GENES |
KEGG GENES(7809);
|
GeneCard |
BSND;
*GeneCards is provided free to academic non-profit institutions.
|
etc |
Human-Gene diversity Of Life-style related Diseases;
|
Curation status |
Auto-annotated
|
Notes |
NA
|