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Aliases for DLX3 Gene

Aliases for DLX3 Gene

  • Distal-Less Homeobox 3 2 3
  • TDO 3 6
  • AI4 3 6
  • Distal-Less Homeo Box 3 2
  • Homeobox Protein DLX-3 3

External Ids for DLX3 Gene

Previous GeneCards Identifiers for DLX3 Gene

  • GC17M047778
  • GC17M050547
  • GC17M048409
  • GC17M048543
  • GC17M048542
  • GC17M045423
  • GC17M048067
  • GC17M043432

Summaries for DLX3 Gene

Entrez Gene Summary for DLX3 Gene

  • Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]

GeneCards Summary for DLX3 Gene

DLX3 (Distal-Less Homeobox 3) is a Protein Coding gene. Diseases associated with DLX3 include amelogenesis imperfecta, type iv and trichodontoosseous syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription. An important paralog of this gene is DLX5.

UniProtKB/Swiss-Prot for DLX3 Gene

  • Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis

Gene Wiki entry for DLX3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLX3 Gene

Genomics for DLX3 Gene

Regulatory Elements for DLX3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DLX3 Gene

Start:
49,990,005 bp from pter
End:
49,995,224 bp from pter
Size:
5,220 bases
Orientation:
Minus strand

Genomic View for DLX3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DLX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLX3 Gene

Proteins for DLX3 Gene

  • Protein details for DLX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60479-DLX3_HUMAN
    Recommended name:
    Homeobox protein DLX-3
    Protein Accession:
    O60479
    Secondary Accessions:
    • B3KQL6

    Protein attributes for DLX3 Gene

    Size:
    287 amino acids
    Molecular mass:
    31738 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DLX3 Gene

Proteomics data for DLX3 Gene at MOPED

Post-translational modifications for DLX3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLX3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DLX3 Gene

Domains for DLX3 Gene

Gene Families for DLX3 Gene

HGNC:
  • NKL :Homeoboxes / ANTP class : NKL subclass

Suggested Antigen Peptide Sequences for DLX3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60479

UniProtKB/Swiss-Prot:

DLX3_HUMAN :
  • O60479
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the distal-less homeobox family.
genes like me logo Genes that share domains with DLX3: view

Function for DLX3 Gene

Molecular function for DLX3 Gene

GENATLAS Biochemistry: Drosophila distal less homolog Dlx3,homeo domain encoding gene
UniProtKB/Swiss-Prot Function: Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis

Gene Ontology (GO) - Molecular Function for DLX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding --
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 9467018
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with DLX3: view
genes like me logo Genes that share phenotypes with DLX3: view

Animal Models for DLX3 Gene

MGI Knock Outs for DLX3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DLX3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for DLX3 Gene

Localization for DLX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLX3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DLX3 Gene COMPARTMENTS Subcellular localization image for DLX3 gene
Compartment Confidence
nucleus 3
cytosol 1
extracellular 1

Gene Ontology (GO) - Cellular Components for DLX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with DLX3: view

Pathways for DLX3 Gene

SuperPathways for DLX3 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for DLX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0001890 placenta development IEA --
GO:0042475 odontogenesis of dentin-containing tooth IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
GO:0071895 odontoblast differentiation IEA --
genes like me logo Genes that share ontologies with DLX3: view

No data available for Pathways by source for DLX3 Gene

Transcripts for DLX3 Gene

mRNA/cDNA for DLX3 Gene

Unigene Clusters for DLX3 Gene

Distal-less homeobox 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DLX3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLX3 Gene

No ASD Table

Relevant External Links for DLX3 Gene

GeneLoc Exon Structure for
DLX3
ECgene alternative splicing isoforms for
DLX3

Expression for DLX3 Gene

mRNA expression in normal human tissues for DLX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLX3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (22.8) and Skin - Not Sun Exposed (Suprapubic) (20.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DLX3 Gene

SOURCE GeneReport for Unigene cluster for DLX3 Gene Hs.134194

genes like me logo Genes that share expressions with DLX3: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for DLX3 Gene

Orthologs for DLX3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLX3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLX3 35
  • 100 (n)
  • 100 (a)
DLX3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DLX3 35
  • 93.96 (n)
  • 99.3 (a)
DLX3 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLX3 35
  • 93.5 (n)
  • 99.3 (a)
DLX3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dlx3 35
  • 91.17 (n)
  • 97.91 (a)
Dlx3 16
Dlx3 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DLX3 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dlx3 35
  • 91.64 (n)
  • 97.91 (a)
chicken
(Gallus gallus)
Aves DLX3 35
  • 78.54 (n)
  • 79.86 (a)
DLX3 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLX3 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia dlx3-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dlx3 35
  • 65.22 (n)
  • 67.98 (a)
Str.1302 35
zebrafish
(Danio rerio)
Actinopterygii dlx3b 35
  • 69.92 (n)
  • 72.56 (a)
dlx3b 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dll 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-43 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
ManyToMany
CSA.6494 36
  • 14 (a)
ManyToMany
Species with no ortholog for DLX3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DLX3 Gene

ENSEMBL:
Gene Tree for DLX3 (if available)
TreeFam:
Gene Tree for DLX3 (if available)

Paralogs for DLX3 Gene

Selected SIMAP similar genes for DLX3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DLX3: view

Variants for DLX3 Gene

Sequence variations from dbSNP and Humsavar for DLX3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs760088 -- 49,993,061(-) GGCGA(A/G)TGTGT intron-variant
rs919088 -- 49,993,774(-) GGCCG(A/C)GGCCA intron-variant
rs1426320 -- 49,990,481(-) AGTTA(A/G)AACTT utr-variant-3-prime
rs2278163 -- 49,995,062(-) TCTCT(C/T)GCACT utr-variant-5-prime
rs2303466 -- 49,993,514(-) CGTAC(A/G)ATCTA synonymous-codon, reference

Structural Variations from Database of Genomic Variants (DGV) for DLX3 Gene

Variant ID Type Subtype PubMed ID
nsv833474 CNV Loss 17160897
nsv908588 CNV Loss 21882294
nsv908589 CNV Loss 21882294

Relevant External Links for DLX3 Gene

HapMap Linkage Disequilibrium report
DLX3
Human Gene Mutation Database (HGMD)
DLX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLX3 Gene

Disorders for DLX3 Gene

(2) OMIM Diseases for DLX3 Gene (600525)

UniProtKB/Swiss-Prot

DLX3_HUMAN
  • Trichodentoosseous syndrome (TDO) [MIM:190320]: An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. {ECO:0000269 PubMed:9467018}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Amelogenesis imperfecta 4 (AI4) [MIM:104510]: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. {ECO:0000269 PubMed:15666299}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for DLX3 Gene

(4) Novoseek inferred disease relationships for DLX3 Gene

Disease -log(P) Hits PubMed IDs
tdo syndrome 98.7 4
taurodontism 91.8 2
amelogenesis imperfecta 84.4 1
choriocarcinoma 43.5 5

Relevant External Links for DLX3

Genetic Association Database (GAD)
DLX3
Human Genome Epidemiology (HuGE) Navigator
DLX3
genes like me logo Genes that share disorders with DLX3: view

Publications for DLX3 Gene

  1. Genomic structure and functional control of the Dlx3-7 bigene cluster. (PMID: 11792834) Sumiyama K. … Ruddle F.H. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 4 23
  2. Increased bone density associated with DLX3 mutation in the tricho-dento-osseous syndrome. (PMID: 15454107) Haldeman R.J. … Wright J.T. (Bone 2004) 3 23 48
  3. A role for CCAAT/enhancer-binding protein beta in the basal regulation of the distal-less 3 gene promoter in placental cells. (PMID: 14670999) Holland M.P. … Roberson M.S. (Endocrinology 2004) 3 23
  4. Smad6 represses Dlx3 transcriptional activity through inhibition of DNA binding. (PMID: 16687405) Berghorn K.A. … Roberson M.S. (J. Biol. Chem. 2006) 3 23
  5. Severely hypoplastic amelogenesis imperfecta with taurodontism. (PMID: 17559453) Pavlic A. … Alaluusua S. (Int J Paediatr Dent 2007) 3 23

Products for DLX3 Gene

Sources for DLX3 Gene

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