Property Summary

NCBI Gene PubMed Count 7
Grant Count 6
R01 Count 5
Funding $616,524.49
PubMed Score 3.70
PubTator Score 5.12

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Gene RIF (4)

PMID Text
25256356 Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation.
21695143 new insights into the gene deregulation characterizing both FSHD-1 and FSHD-2, in which miRNAs may play a role
20975055 Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process.
15520407 FRG2 is upregulated in differentiating myoblast cultures of autosomal dominant facioscapulohumeral muscular dystrophy patients.

AA Sequence

MGKGNEDSDLHCSSIQCSTDQPPFQQISFTEKGSDEKKPFKEKGKTAFSHSSEKHIQRQGSEPNPNKENS      1 - 70
EETKLKAGNSTAGSEPESSSYRENCRKRKMSSKDSCQDTAGNCPEKECSLSLNKKSRSSTAVHNSEIQET     71 - 140
CDAHHRGHSRACTGHSKRHRSRALGVQTPSIRKSLVTSVRAMSEAVYQDLAQVWAQQIHSPLTCEQLTLL    141 - 210
TRLRGPLCAQVQTLYSMATQAAYVFPAESWLVPATLPGPGESALDREAHPFPGQEITETVSGSDEAKL      211 - 278
//

Text Mined References (9)

PMID Year Title
25256356 2015 Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
21695143 2011 Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns.
20975055 2010 Clinical features of facioscapulohumeral muscular dystrophy 2.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15520407 2004 FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12176321 2002 Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle.
11829491 2002 Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.