STANDARD_NAME ABE_INNER_EAR SYSTEMATIC_NAME M260 COLLECTION C2:CGP MSIGDB_URL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/ABE_INNER_EAR NAMESPACE HUMAN_SEQ_ACCESSION DESCRIPTION_BRIEF Genes prefentially expressed in human inner ear tissue (cochlea and vestibule), at least 10-fold higher from a mixture of 29 other tissues. DESCRIPTION_FULL 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. PMID 12471561 GEOID AUTHORS Abe S,Katagiri T,Saito-Hisaminato A,Usami S,Inoue Y,Tsunoda T,Nakamura Y CONTRIBUTOR John Newman CONTRIBUTOR_ORG University of Washington EXACT_SOURCE Table 1 FILTERED_BY_SIMILARITY EXTERNAL_NAMES_FOR_SIMILAR_TERMS EXTERNAL_DETAILS_URL SOURCE_MEMBERS AA057243,AA058578,AA148265,AA205528,AA252389,AA292179,AA308743,AA434038,AA446913,AA496786,AA526377,AA625532,AA633908,AA669336,AA972852,AB003184,AF039699,AF052685,AF284751,AI240945,AI268685,AI344213,AY043487,F22593,J02611,J02984,J05096,L02950,M61901,M62402,M64722,M68864,N71750,NM_003460,NM_020157,S72043,T55019,U14970,U59832,W39428,W73992,W84565,X03342,X06617,X13916,X53331,X54412,X75450,X89401,X96484,X99920,XM_051860 GENE_SYMBOLS PLEKHB1,,RPL21,CA14,LHFPL6,UBA52,RPL35,RAB1B,USP11,COL9A3,,DDR2,,COCH,RBP1,ISLR,USH1C,,HYI,UTY,C19orf53,CCS,SELENOM,VAMP5,APOD,RPS15,ATP1A2,CRYM,,IGFBP6,CLU,UBXN1,,ZP2,OTOR,MT3,RPL28,RPS5,FOXD1,FBXO2,WNK2,NENF,RPL32,RPS11,LRP1,MGP,COL9A1,MIA,RPL21,,S100A13, FOUNDER_NAMES