Property Summary

NCBI Gene PubMed Count 20
PubMed Score 27.09
PubTator Score 17.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
oligodendroglioma -1.300 2.1e-03
osteosarcoma -2.023 1.3e-02
medulloblastoma, large-cell -1.700 4.9e-03
non-small cell lung cancer 1.188 5.5e-08
lung cancer 3.300 4.6e-06
pilocytic astrocytoma -1.100 4.6e-03
posterior fossa group B ependymoma -1.200 2.4e-05

Gene RIF (13)

PMID Text
25332435 Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
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.
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.
21108812 MDA-MB-231 breast neoplasms did not express DLX6 but the resulting bone/lung metastases did.
20808887 p63 binds to an enhancer element in the SHFM1 locus and this element controls expression of DLX6 and DLX5 which are important for limb development.
20634891 Observational study of gene-disease association. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19195802 Results describe the expression of DLX5 and DLX6 in autistic spectrum disorder patients in an attempt to identify potential abnormality of expression.
17701895 DLX5 and DLX6 are not imprinted in humans and are not likely to be direct targets of MeCP2 modulation.
12707945 single nucleotide polymorphisms in intron 1 of the DLX6 gene and in exon 4 of the PCLO gene are not in linkage disequilibrium with autism.
12193642 In mice, deletion of Dlx5 and Dlx6 results in skull repatterning, including a homeotic transformation of the lower jaw into an upper jaw, and supports a model of patterning within branchial arches that relies on a nested pattern of Dlx gene expression.
11711438 In mice, Dlx6 acts as an intermediary between endothelin-1 signaling and transcription of the basic helix-loop-helix transcription factor dHAND during craniofacial morphogenesis.

AA Sequence

MSHSQHSPYLQSYHNSSAAAQTRGDDTDQQKTTVIENGEIRFNGKGKKIRKPRTIYSSLQLQALNHRFQQ      1 - 70
TQYLALPERAELAASLGLTQTQVKIWFQNKRSKFKKLLKQGSNPHESDPLQGSAALSPRSPALPPVWDVS     71 - 140
ASAKGVSMPPNSYMPGYSHWYSSPHQDTMQRPQMM                                       141 - 175
//

Text Mined References (21)

PMID Year Title
25332435 2014 Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
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.
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.
21108812 2010 Mutually exclusive expression of DLX2 and DLX5/6 is associated with the metastatic potential of the human breast cancer cell line MDA-MB-231.
20808887 2010 Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19195802 2010 Expression analysis and mutation detection of DLX5 and DLX6 in autism.
17701895 2007 DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12707945 2003 No association between single nucleotide polymorphisms in DLX6 and Piccolo genes at 7q21-q22 and autism.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12193642 2002 Specification of jaw subdivisions by Dlx genes.
11711438 2001 Role of Dlx6 in regulation of an endothelin-1-dependent, dHAND branchial arch enhancer.
8733122 1996 Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
8012384 1994 Purification of CpG islands using a methylated DNA binding column.
7907794 1994 Cloning and characterization of two members of the vertebrate Dlx gene family.