Bartter syndrome, infantile, with sensorineural deafness (Barttin)

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Synonym

-

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:- cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:- peripheral blood:- spleen:- thymus:- bone marrow:- adipose:- bone:- skin:-
GeneChip nodata
CAGE nodata
RNA-seq nodata
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:- placenta:- prostate:- ovary:- testis:- heart:- muscle:- esophagus:- stomach:- intestine:- colon:-     liver/hepato:-        lung:-    bladder:- kidney:127.60 pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:- breast:- salivary:-
GeneChip nodata
CAGE nodata
RNA-seq nodata

Gene Information

IDs

Refseq ID NM_138979
Gene ID 192675
Unigene ID Rn.22715
Probe set ID -
Ensembl ID ENSRNOG00000006543

Orthologous Gene

Human[1]  NM_057176
Mouse[1]  NM_080458

Chromosomal Region

5q34  [127,542,349  -  127,551,048]

Gene Family (Interpro ID)

-

Link to Pubmed  (Pubmed ID)

11687798
12111250
12477932
12759757
15489334

Gene Ontology  (GO ID)

Biological Process

GO:0006821  chloride transport

Cellular Component

GO:0016323  basolateral plasma membrane
GO:0005575  cellular_component
GO:0005887  integral to plasma membrane
GO:0043234  protein complex

Molecular Function

GO:0005254  chloride channel activity
GO:0017081  chloride channel regulator activity