Human Gene DLX6 (ENST00000518156.3_7) from GENCODE V47lift37
  Description: distal-less homeobox 6 (from RefSeq NM_005222.4)
Gencode Transcript: ENST00000518156.3_7
Gencode Gene: ENSG00000006377.11_10
Transcript (Including UTRs)
   Position: hg19 chr7:96,634,865-96,640,352 Size: 5,488 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr7:96,635,290-96,639,359 Size: 4,070 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:96,634,865-96,640,352)mRNA (may differ from genome)Protein (293 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DLX6_HUMAN
DESCRIPTION: RecName: Full=Homeobox protein DLX-6;
SUBCELLULAR LOCATION: Nucleus (Potential).
DEVELOPMENTAL STAGE: First expressed in embryos at 8.5-9 days in facial and branchial arch mesenchyme, otic vesicles and frontonasal ectoderm around olfactory placodes, a day later expression is seen in the developing forebrain in primordia of the ganglionic eminence and ventral diencephalic regions. In day 12.5 embryos, expressed in the brain and bones, and also in all skeletal structures of midgestation embryos after the first cartilage formation, and expression progressively declines in both brain and skeleton in day 15 embryos.
SIMILARITY: Belongs to the distal-less homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DLX6
Diseases sorted by gene-association score: split hand-split foot malformation* (261), rapp-hodgkin syndrome (17), split-hand/foot malformation 1 with sensorineural hearing loss (12), rett syndrome (9), split foot (8), hand-foot-uterus syndrome (8), split hand-foot malformation 2 (6), split-hand/foot malformation 4 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.34 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 27.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -146.80425-0.345 Picture PostScript Text
3' UTR -248.10993-0.250 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR020479 - Homeobox_metazoa
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR000047 - HTH_motif

Pfam Domains:
PF00046 - Homeodomain

SCOP Domains:
101447 - Formin homology 2 domain (FH2 domain)
46689 - Homeodomain-like
58087 - Variant surface glycoprotein (N-terminal domain)

ModBase Predicted Comparative 3D Structure on P56179
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0001501 skeletal system development
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0030326 embryonic limb morphogenesis
GO:0030855 epithelial cell differentiation
GO:0042472 inner ear morphogenesis
GO:0048646 anatomical structure formation involved in morphogenesis
GO:0050679 positive regulation of epithelial cell proliferation
GO:0060021 palate development
GO:0060322 head development

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AK094086 - Homo sapiens cDNA FLJ36767 fis, clone 3NB692001459, highly similar to Homo sapiens distal-less homeobox 6 (DLX6), mRNA.
JD252039 - Sequence 233063 from Patent EP1572962.
BC103688 - Homo sapiens distal-less homeobox 6, mRNA (cDNA clone MGC:125285 IMAGE:40000523), complete cds.
BC103689 - Homo sapiens distal-less homeobox 6, mRNA (cDNA clone MGC:125284 IMAGE:40000521), complete cds.
BC103690 - Homo sapiens distal-less homeobox 6, mRNA (cDNA clone MGC:125283 IMAGE:40000520), complete cds.
BC109381 - Homo sapiens distal-less homeobox 6, mRNA (cDNA clone MGC:125282 IMAGE:40000518), complete cds.
CU686772 - Synthetic construct Homo sapiens gateway clone IMAGE:100022587 5' read DLX6 mRNA.
KJ901387 - Synthetic construct Homo sapiens clone ccsbBroadEn_10781 DLX6 gene, encodes complete protein.
BC069363 - Homo sapiens distal-less homeobox 6, mRNA (cDNA clone MGC:96882 IMAGE:7262091), complete cds.
LF205109 - JP 2014500723-A/12612: Polycomb-Associated Non-Coding RNAs.
MA440686 - JP 2018138019-A/12612: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P56179 (Reactome details) participates in the following event(s):

R-HSA-9007707 DLX5,(DLX6) binds RUNX2 gene promoter
R-HSA-8939902 Regulation of RUNX2 expression and activity
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A4D1I2, B3KSQ0, DLX6_HUMAN, ENST00000518156.1, ENST00000518156.2, J3KR92, NM_005222, P56179, Q3ZAR6, Q9UPL2, uc323qmp.1, uc323qmp.2
UCSC ID: ENST00000518156.3_7
RefSeq Accession: NM_005222.4
Protein: P56179 (aka DLX6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.