Property Summary

NCBI Gene PubMed Count 14
Grant Count 2
Funding $58,833.62
PubMed Score 21.02
PubTator Score 14.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
medulloblastoma -2.200 0.000
atypical teratoid / rhabdoid tumor -1.500 0.007
medulloblastoma, large-cell -2.000 0.000
pilocytic astrocytoma -1.100 0.004
pituitary cancer 1.900 0.000

Gene RIF (7)

PMID Text
24416283 Description of the spectrum of mutations in TMIE in 374 families with autosomal recessive, non-syndromic hearing loss from India.
20206386 We suggest that a missense variant and one promoter variant is de novo and may be a risk factor for the development of hearing loss in Taiwanese
20206386 Observational study of gene-disease association. (HuGE Navigator)
19438934 p.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL)
14727813 The circling mouse is a potential animal model for DFNB6 deafness in humans.
12145746 identification of 5 different homozygous recessive mutations in a novel gene, TMIE= transmembrane inner ear expressed gene, in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6
12140191 genetic mapping data support human TMIE as the gene affected at DFNB6, a non-syndromic hearing loss locus

AA Sequence

MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVVGIFSLFVLSI      1 - 70
IITLCCVFNCRVPRTRKEIEARYLQRKAAKMYTDKLETVPPLNELTEVPGEDKKKKKKKKKDSVDTVAIK     71 - 140
VEEDEKNEAKKKKGEK                                                          141 - 156
//

Text Mined References (14)

PMID Year Title
24416283 2014 Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
20206386 2010 Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss.
19438934 2009 A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.
16389551 2006 Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14727813 2003 Fine mapping of the circling (cir) gene on the distal portion of mouse chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12145746 2002 Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
12140191 2002 Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.
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