Property Summary

NCBI Gene PubMed Count 36
PubMed Score 38.23
PubTator Score 47.72

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma -4.000 2.7e-08
psoriasis 1.300 4.0e-03
astrocytoma 2.400 1.1e-03
glioblastoma 2.400 1.7e-04
osteosarcoma 1.569 5.9e-03
medulloblastoma, large-cell -2.000 2.9e-03
tuberculosis -2.300 6.6e-06
intraductal papillary-mucinous adenoma (... -1.400 3.4e-04
ovarian cancer -5.500 2.7e-19
pituitary cancer -2.500 9.0e-09

Gene RIF (19)

PMID Text
26400775 Genetic variations in the EYA4, GRHL2 and DFNA5 genes and their interactions with occupational noise exposure may play an important role in the incidence of noise-induced hearing loss (NIHL).
26365971 Study identified a novel DFNA5 mutation IVS8+1 delG in a Chinese family which led to skipping of exon 8. This is the sixth DFNA5 mutation relates to hearing loss and the second one in DFNA5 intron 8.
24933359 We identified a novel c.991-2A>G mutation in DFNA5 which again may lead to exon 8 skipping at the mRNA level.
24506266 DFNA5 deletion mutation is associated with autosomal dominant hereditary hearing loss in Japanese families.
24154762 DFNA5 protein expression in hepatocellular carcinoma cells was significantly lower than that in normal cells.
21805831 A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment.
21522185 DFNA5 is composed of two domains, separated by a hinge region. The first region induces apoptosis when transfected in HEK293T cells, the second region masks and probably regulates this apoptosis inducing capability
20403915 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19911014 A founder effect was demonstrated for the mutation of the DFNA5 gene casusing hearing loss in East Asians.
18346456 These data implicate DFNA5 promoter methylation as a novel molecular biomarker in human breast cancer.
18223688 DFNA5 is a novel tumor suppressor gene in CRC and a valuable molecular marker for human cancer
17868390 DFNA5-associated hearing loss is caused by a very specific gain-of-function mutation.
17616391 GCs induce dfna5 mRNA and its expression appears to be repressed in the basal state. Induction of dfna5 mRNA correlates with GC-dependent apoptosis of CEM cells, though dfna5 expression alone is not sufficient for apoptosis.
17427029 description of a DFNA5 mutation: the insertion of a cytosine at nucleotide position 640 (AF073308.1:_c.640insC, AAC69324.1:_p. Thr215HisfsX8) which does not lead to hearing impairment
16897187 These results suggest that DFNA5 plays a role in the p53-regulated cellular response to genotoxic stress probably by cooperating with p53.
14676472 A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined.
14559215 Here, we report another mutation in DFNA5, a CTT deletion in the polypyrimidine tract of intron 7.
12461698 no significant linkage between age-related hearing impairment (ARHI) and microsatellite markers from the DFNA5 region; there exists no strong association between DFNA5 and ARHI

AA Sequence

MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSP      1 - 70
VVVESDFVKYEGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLR     71 - 140
NPVLQQVLEGRNEVLCVLTQKITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLE    141 - 210
IPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDG    211 - 280
PLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKP    281 - 350
RQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLL    351 - 420
RALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCA    421 - 490
LGREHS                                                                    491 - 496
//

Text Mined References (40)

PMID Year Title
27281216 2016 Pore-forming activity and structural autoinhibition of the gasdermin family.
26400775 2015 Associations of genetic variations in EYA4, GRHL2 and DFNA5 with noise-induced hearing loss in Chinese population: a case- control study.
26365971 2015 IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.
26236191 2015 The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways.
24933359 2014 A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family.
24506266 2014 A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.
24154762 2013 The expression and regulation of DFNA5 in human hepatocellular carcinoma DFNA5 in hepatocellular carcinoma.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22493364 2012 Methylation of the DFNA5 gene is frequently detected in colorectal cancer.
21805831 2011 [Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss].
21522185 2011 The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.
21269460 2011 Initial characterization of the human central proteome.
20403915 2010 Single nucleotide polymorphisms in Wnt signaling and cell death pathway genes and susceptibility to colorectal cancer.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19911014 2010 Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18346456 2008 Methylation of the DFNA5 increases risk of lymph node metastasis in human breast cancer.
18223688 2008 Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17868390 2007 A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
17616391 2007 In CEM cells the autosomal deafness gene dfna5 is regulated by glucocorticoids and forskolin.
17427029 2007 A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
16897187 2006 The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14676472 A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.
14559215 2003 A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family.
12853948 2003 The DNA sequence of human chromosome 7.
12853124 2003 A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12461698 2002 Is DFNA5 a susceptibility gene for age-related hearing impairment?
11058868 2000 Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs.
9771715 1998 Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
9523727 1998 Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas.
9450185 Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
8589696 1995 Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.