Property Summary

NCBI Gene PubMed Count 16
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

Synonym

Accession B1AK53 Q6XYB2 Q9H0A2 Q9Y329
Symbols DFNB36
LP2654

Gene

  Ortholog (4)

Species Source
Mouse EggNOG Inparanoid
Rat EggNOG Inparanoid
Dog EggNOG Inparanoid
Opossum EggNOG Inparanoid

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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