Property Summary

NCBI Gene PubMed Count 16
Grant Count 35
R01 Count 22
Funding $5,394,708.52
PubMed Score 88.03
PubTator Score 26.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.111 0.004
psoriasis -1.600 0.000

Gene RIF (8)

PMID Text
24424026 The espin actin-filament-binding site has a major effect on the formation and dynamics of actin bundles.
19773279 Observational study of gene-disease association. (HuGE Navigator)
19102128 Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies
18973245 A recessive ESPN mutation causing congenital hearing loss in a Morocan family was reported.
16569662 Here, we report a new activity of the espins, one that depends on their enigmatic WH2 domain: the ability to assemble a large actin bundle when targeted to a specific subcellular location.
15930085 Observational study of gene-disease association. (HuGE Navigator)
15930085 The results further strengthen the causative role of the espin gene in non-syndromic hearing loss and add new insights into espin structure and function.
15286153 human deafness and vestibular dysfunction co-segregated with either of two frameshift mutations in ESPN.

AA Sequence

MALEQALQAARQGELDVLRSLHAAGLLGPSLRDPLDALPVHHAARAGKLHCLRFLVEEAALPAAARARNG      1 - 70
ATPAHDASATGHLACLQWLLSQGGCRVQDKDNSGATVLHLAARFGHPEVVNWLLHHGGGDPTAATDMGAL     71 - 140
PIHYAAAKGDFPSLRLLVEHYPEGVNAQTKNGATPLYLACQEGHLEVTQYLVQECGADPHARAHDGMTPL    141 - 210
HAAAQMGHSPVIVWLVSCTDVSLSEQDKDGATAMHFAASRGHTKVLSWLLLHGGEISADLWGGTPLHDAA    211 - 280
ENGELECCQILVVNGAELDVRDRDGYTAADLSDFNGHSHCTRYLRTVENLSVEHRVLSRDPSAELEAKQP    281 - 350
DSGMSSPNTTVSVQPLNFDLSSPTSTLSNYDSCSSSHSSIKGQHPPCGLSSARAADIQSYMDMLNPELGL    351 - 420
PRGTIGKPTPPPPPPSFPPPPPPPGTQLPPPPPGYPAPKPPVGPQAADIYMQTKNKLRHVETEALKKELS    421 - 490
SCDGHDGLRRQDSSRKPRAFSKQPSTGDYYRQLGRCPGETLAARPGMAHSEEVRARQPARAGCPRLGPAA    491 - 560
RGSLEGPSAPPQAALLPGNHVPNGCAADPKASRELPPPPPPPPPPLPEAASSPPPAPPLPLESAGPGCGQ    561 - 630
RRSSSSTGSTKSFNMMSPTGDNSELLAEIKAGKSLKPTPQSKGLTTVFSGIGQPAFQPDSPLPSVSPALS    631 - 700
PVRSPTPPAAGFQPLLNGSLVPVPPTTPAPGVQLDVEALIPTHDEQGRPIPEWKRQVMVRKMQLKMQEEE    701 - 770
EQRRKEEEEEARLASMPAWRRDLLRKKLEEEREQKRKEEERQKQEELRREKEQSEKLRTLGYDESKLAPW    771 - 840
QRQVILKKGDIAKY                                                            841 - 854
//

Text Mined References (15)

PMID Year Title
24424026 2014 Characterization and regulation of an additional actin-filament-binding site in large isoforms of the stereocilia actin-bundling protein espin.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19102128 2008 Unique transgenic animal model for hereditary hearing loss.
18973245 2008 A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16569662 2006 Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells.
15930085 2006 Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15286153 2004 Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
12598619 2003 Novel espin actin-bundling proteins are localized to Purkinje cell dendritic spines and bind the Src homology 3 adapter protein insulin receptor substrate p53.
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