Human Gene Set: ABE_INNER_EAR

Standard name ABE_INNER_EAR
Systematic name M260
Brief description Genes prefentially expressed in human inner ear tissue (cochlea and vestibule), at least 10-fold higher from a mixture of 29 other tissues.
Full description or abstract Through cDNA microarray analysis of gene expression in human cochlea and vestibule, we detected strong expression of mu-crystallin (CRYM; also known as NADP-regulated thyroid hormone-binding protein) only in these inner-ear tissues. In a subsequent search for mutations of CRYM, among 192 patients with nonsyndromic deafness, we identified two mutations at the C-terminus; one was a de novo change (X315Y) in a patient with unaffected parents, and the other was a missense mutation (K314T) that segregated dominantly in the proband's family. When the mutated proteins were expressed in COS-7 cells, their subcellular localizations were different from that of the normal protein: the X315Y mutant showed vacuolated distribution in the cytoplasm, and the K314T mutant localized in perinuclear areas, whereas normal protein was distributed homogeneously in the cytoplasm. Aberrant intracellular localization of the mutated proteins might cause dysfunction of the CRYM product and result in hearing impairment. In situ hybridization analysis using mouse tissues indicated its expression in the lateral region of the spiral ligament and the fibrocytes of the spiral limbus, implying its possible involvement in the potassium-ion recycling system. Our results strongly implicate CRYM in normal auditory function and identify it as one of the genes that can be responsible for nonsyndromic deafness.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 12471561   Authors: Abe S,Katagiri T,Saito-Hisaminato A,Usami S,Inoue Y,Tsunoda T,Nakamura Y
Exact source Table 1
Related gene sets (show 6 gene sets from the same authors)
External links
Filtered by similarity ?
Source species Homo sapiens
Contributed by John Newman (University of Washington)
Source platform or
identifier namespace
Dataset references  
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 43 genes
Gene families ? Categorize these 43 genes by gene family
Show members (show 52 source identifiers mapped to 43 genes)
Version history 3.0: Renamed from INNEREAR_UP

See MSigDB license terms here. Please note that certain gene sets have special access terms.