Property Summary

NCBI Gene PubMed Count 14
Grant Count 694
R01 Count 493
Funding $48,744,616.39
PubMed Score 17.64
PubTator Score 17.29

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma 1.200 0.000
psoriasis -1.300 0.000
osteosarcoma -3.624 0.000
ependymoma 1.600 0.000
atypical teratoid / rhabdoid tumor 1.600 0.000
glioblastoma 1.800 0.000
tuberculosis 1.100 0.000
pediatric high grade glioma 1.300 0.000
Breast cancer 1.600 0.000
dermatomyositis -1.200 0.004

Synonym

Accession Q9NR83 Q2PHL5 Q6F6I6 Q6F6I7 Q6GTK5 Q8TAH5 Q8WVW7 Q96QD3 Q9BV85
Symbols GEF
HDBP1
HDBP-1
Si-1-2
Si-1-2-19

Gene

Gene RIF (4)

PMID Text
18249389 Observational study of gene-disease association. (HuGE Navigator)
16368714 Exercise increases MEF2 and GEF DNA binding and imply that these transcription factors could be potential targets for modulating GLUT4 expression in human skeletal muscle.
14630949 GEF and MEF2A have roles in regulating the GLUT4 promoter
14625278 HDBP1 and HDBP2 are novel transcription factors shuttling between nucleus and cytoplasm and bind to the specific GCCGGCG, which is an essential cis-element for HD gene expression in neuronal cells

AA Sequence

MERPPPRAAGRDPSALRAEAPWLRAEGPGPRAAPVTVPTPPQGSSVGGGFAGLEFARPQESEPRASDLGA      1 - 70
PRTWTGAAAGPRTPSAHIPVPAQRATPGKARLDEVMAAAALTSLSTSPLLLGAPVAAFSPEPGLEPWKEA     71 - 140
LVRPPGSYSSSSNSGDWGWDLASDQSSPSTPSPPLPPEAAHFLFGEPTLRKRKSPAQVMFQCLWKSCGKV    141 - 210
LSTASAMQRHIRLVHLGRQAEPEQSDGEEDFYYTELDVGVDTLTDGLSSLTPVSPTASMPPAFPRLELPE    211 - 280
LLEPPALPSPLRPPAPPLPPPPVLSTVANPQSCHSDRVYQGCLTPARLEPQPTEVGACPPALSSRIGVTL    281 - 350
RKPRGDAKKCRKVYGMERRDLWCTACRWKKACQRFLD                                     351 - 387
//

Text Mined References (15)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
18249389 2008 Polymorphism in postinsulin receptor signaling pathway is not associated with polycystic ovary syndrome.
16368714 2006 Exercise increases MEF2- and GEF DNA-binding activity in human skeletal muscle.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14630949 2003 Regulation of the human GLUT4 gene promoter: interaction between a transcriptional activator and myocyte enhancer factor 2A.
14625278 2004 Novel nuclear shuttle proteins, HDBP1 and HDBP2, bind to neuronal cell-specific cis-regulatory element in the promoter for the human Huntington's disease gene.
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