Property Summary

NCBI Gene PubMed Count 45
Grant Count 116
R01 Count 66
Funding $8,127,584.88
PubMed Score 140.77
PubTator Score 65.85

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
non-small cell lung cancer 2.052 0.000
lung cancer 3.400 0.000

Synonym

Accession P56178 B7Z4P3 Q9UPL1
Symbols SHFM1D

Gene

PDB

2DJN   4RDU  

Gene RIF (29)

PMID Text
26829219 These data indicate that certain missense mutations diminish the ability of the Dlx5 homeodomain to recognize and bind target DNAs, and they likely destabilize the formation of functional complexes.
25332435 Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
25196357 Heterozygous DLX5 nonsense mutation c.G115T(p.E39X) associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated Polish families.
25025858 In cells grown on titanium support, DLX5 and RUNX1 were respectively upregulated (+3.12-fold) and downregulated (-2.14-fold)
24496061 A novel heterozygous mutation in exon 3 of DLX5 found in the family members with SHFM1 phenotype.
24459211 Genome sequencing of the deletion breakpoints showed that the DLX5 and DLX6 genes are disomic but the putative DYNC1I1 exon 15 and 17 enhancers are deleted.
23193016 The strongest evidence for altered methylation patterns in shiftworkers was observed for DLX5 gene.
23169702 The duplicated region harbors only DLX5 and DLX6, which are known for their role in SHFM1.
22342398 Two patients that have in common a p63-Dlx5/Dlx6 pathway dysregulation.
22332551 Cyclic tensile stress may induce differentiation of periodontal ligament stem cells towards mineralized tissue cells by promoting Dlx5 mRNA expression and decreasing Msx2 expression.
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AA Sequence

MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKAL      1 - 70
NPYQYQYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKP     71 - 140
RTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNKRSKIKKIMKNGEMPPEHSPSSS    141 - 210
DPMACNSPQSPAVWEPQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHP    211 - 280
LALASGTLY                                                                 281 - 289
//

Text Mined References (45)

PMID Year Title
26829219 2016 Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.
25332435 2014 Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
25196357 2014 Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
25025858 2014 Expression of SP7, RUNX1, DLX5, and CTNNB1 in human mesenchymal stem cells cultured on xenogeneic bone substitute as compared with machined titanium.
24496061 2014 Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
24459211 2014 Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.
23193016 2013 Methylation alterations at imprinted genes detected among long-term shiftworkers.
23169702 2012 A 0.7?Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.
22342398 2012 Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.
22332551 2011 [Changes in the expression of Dlx5, Msx2, and Dlx5/Msx2 in hPDLSCs loaded with cyclic tensile stress].
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