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Bsnd Gene Detail
Summary
  • Symbol
    Bsnd
  • Name
    barttin CLCNK type accessory beta subunit
  • Synonyms
    Bartter syndrome, infantile, with sensorineural deafness (Barttin)
  • Feature Type
    protein coding gene
  • IDs
    MGI:2153465
    NCBI Gene: 140475
  • Gene Overview
    MyGene.info: BSND
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:106483456-106492243 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 49.67 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    143 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2153465
protein coding gene Chr4:106483456-106492283 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028519
protein coding gene Chr4:107101958-107110706 (-)
A/J MGP_AJ_G0028482
protein coding gene Chr4:103287440-103296190 (-)
AKR/J MGP_AKRJ_G0028429
protein coding gene Chr4:105797933-105806716 (-)
BALB/cJ MGP_BALBcJ_G0028501
protein coding gene Chr4:103474706-103483503 (-)
C3H/HeJ MGP_C3HHeJ_G0028215
protein coding gene Chr4:106546179-106554978 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028941
protein coding gene Chr4:110977235-110986060 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026232
protein coding gene Chr4:98554197-98562887 (-)
CAST/EiJ MGP_CASTEiJ_G0027651
protein coding gene Chr4:104341534-104351306 (-)
CBA/J MGP_CBAJ_G0028184
protein coding gene Chr4:114557026-114565825 (-)
DBA/2J MGP_DBA2J_G0028332
protein coding gene Chr4:102903947-102912747 (-)
FVB/NJ MGP_FVBNJ_G0028300
protein coding gene Chr4:101759360-101768520 (-)
LP/J MGP_LPJ_G0028433
protein coding gene Chr4:107304616-107313372 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028326
protein coding gene Chr4:119893875-119902704 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028977
protein coding gene Chr4:106040735-106051265 (-)
PWK/PhJ MGP_PWKPhJ_G0027377
protein coding gene Chr4:101127548-101136933 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027201
protein coding gene Chr4:103423750-103432567 (-)
WSB/EiJ MGP_WSBEiJ_G0027732
protein coding gene Chr4:106216015-106224851 (-)



Homology
more
  • Human Ortholog
    BSND, barttin CLCNK type accessory beta subunit
  • Vertebrate Orthologs
    8
  • Human Ortholog
    BSND, barttin CLCNK type accessory beta subunit
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BART, DFNB73
  • Links
    NCBI Gene ID: 7809
    neXtProt AC: NX_Q8WZ55
    UniProt: Q8WZ55

  • Chr Location
    1p32.3; chr1:54998944-55008792 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Bsnd mouse models; 1 with human BSND associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 4 alleles in 4 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit severe dehydration and postnatal lethality. Mice homozygous for a cre-activated conditional allele exhibit hearing loss with outer hair cell and stria vascularis degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 140475 NCBI Gene Model | MGI Sequence Detail 8788 C57BL/6J ±  kb
    transcript NM_080458 RefSeq | MGI Sequence Detail 2716 C57BL/6  
    polypeptide Q8VIM4 UniProt | EBI | MGI Sequence Detail 307 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 11
      Diseases 2
      Gene Ontology 4
      Phenotypes 11
    • Earliest
      J:72408 Birkenhager R, et al., Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov;29(3):310-4
    • Latest
      J:249431 Honda K, et al., Molecular architecture underlying fluid absorption by the developing inner ear. Elife. 2017 Oct 10;6

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory