Property Summary

NCBI Gene PubMed Count 36
Grant Count 4
R01 Count 3
Funding $416,324.33
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 0.000
psoriasis 1.300 0.004
astrocytoma 2.400 0.001
glioblastoma 2.400 0.000
osteosarcoma 1.569 0.006
medulloblastoma, large-cell -2.000 0.003
tuberculosis -2.300 0.000
intraductal papillary-mucinous adenoma (... -1.400 0.000
ovarian cancer -5.500 0.000
pituitary cancer -2.500 0.000

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.
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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].
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