Property Summary

NCBI Gene PubMed Count 14
PubMed Score 5.39
PubTator Score 2.61

Knowledge Summary

Patent

No data available

Expression

Gene RIF (2)

PMID Text
25882705 ZNF408, previously associated with Familial Exudative Vitreoretinopathy (FEVR), is a new gene causing autosomal recessive rtinitis pigmentosa.
23716654 Data indicate ZNF408 missense variant (p.Ser126Asn) in 132 familial exudative vitreoretinopathy (FEVR) individuals in a Japanese family.

AA Sequence

MEEAEELLLEGKKALQLAREPRLGLDLGWNPSGEGCTQGLKDVPPEPTRDILALKSLPRGLALGPSLAKE      1 - 70
QRLGVWCVGDPLQPGLLWGPLEEESASKEKGEGVKPRQEENLSLGPWGDVCACEQSSGWTSLVQRGRLES     71 - 140
EGNVAPVRISERLHLQVYQLVLPGSELLLWPQPSSEGPSLTQPGLDKEAAVAVVTEVESAVQQEVASPGE    141 - 210
DAAEPCIDPGSQSPSGIQAENMVSPGLKFPTQDRISKDSQPLGPLLQDGDVDEECPAQAQMPPELQSNSA    211 - 280
TQQDPDGSGASFSSSARGTQPHGYLAKKLHSPSDQCPPRAKTPEPGAQQSGFPTLSRSPPGPAGSSPKQG    281 - 350
RRYRCGECGKAFLQLCHLKKHAFVHTGHKPFLCTECGKSYSSEESFKAHMLGHRGVRPFPCPQCDKAYGT    351 - 420
QRDLKEHQVVHSGARPFACDQCGKAFARRPSLRLHRKTHQVPAAPAPCPCPVCGRPLANQGSLRNHMRLH    421 - 490
TGEKPFLCPHCGRAFRQRGNLRGHLRLHTGERPYRCPHCADAFPQLPELRRHLISHTGEAHLCPVCGKAL    491 - 560
RDPHTLRAHERLHSGERPFPCPQCGRAYTLATKLRRHLKSHLEDKPYRCPTCGMGYTLPQSLRRHQLSHR    561 - 630
PEAPCSPPSVPSAASEPTVVLLQAEPQLLDTHREEEVSPARDVVEVTISESQEKCFVVPEEPDAAPSLVL    631 - 700
IHKDMGLGAWAEVVEVEMGT                                                      701 - 720
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Text Mined References (16)

PMID Year Title
25882705 2015 Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23716654 2013 ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
19801982 2009 Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
19060904 2009 An empirical framework for binary interactome mapping.
18255255 2008 A protein-protein interaction network of transcription factors acting during liver cell proliferation.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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