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Aliases for DLX3 Gene

Aliases for DLX3 Gene

  • Distal-Less Homeobox 3 2 3 5
  • Distal-Less Homeo Box 3 2
  • AI4 3
  • TDO 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 transcription factor activity, sequence-specific DNA binding and chromatin binding. 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

Promoters for DLX3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DLX3 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLX3 Gene

Chromosome:
17
Start:
49,977,079 bp from pter
End:
49,995,224 bp from pter
Size:
18,146 bases
Orientation:
Minus strand

Genomic View for DLX3 Gene

Genes around DLX3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLX3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    Three dimensional structures from OCA and Proteopedia for DLX3 Gene

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 & Families for DLX3 Gene

Gene Families for DLX3 Gene

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

Human Phenotype Ontology for DLX3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLX3 Gene

MGI Knock Outs for DLX3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5

No data available for Gene Ontology (GO) - Cellular Components for DLX3 Gene

Pathways & Interactions for DLX3 Gene

SuperPathways for DLX3 Gene

No Data Available

SIGNOR curated interactions for DLX3 Gene

Activates:

Gene Ontology (GO) - Biological Process for DLX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0006355 regulation of transcription, DNA-templated 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

Drugs & Compounds for DLX3 Gene

No Compound Related Data Available

Transcripts for DLX3 Gene

mRNA/cDNA for DLX3 Gene

Unigene Clusters for DLX3 Gene

Distal-less homeobox 3:
Representative Sequences:

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) (x22.8) and Skin - Not Sun Exposed (Suprapubic) (x20.3).

Protein differential expression in normal tissues from HIPED for DLX3 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DLX3: view

Protein tissue co-expression partners for DLX3 Gene

- Elite partner

Primer Products

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 36
  • 100 (a)
OneToOne
DLX3 35
  • 100 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia DLX3 36
  • 99 (a)
OneToOne
DLX3 35
  • 93.96 (n)
  • 99.3 (a)
dog
(Canis familiaris)
Mammalia DLX3 35
  • 93.5 (n)
  • 99.3 (a)
DLX3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dlx3 36
  • 98 (a)
OneToOne
Dlx3 16
Dlx3 35
  • 91.17 (n)
  • 97.91 (a)
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 36
  • 72 (a)
OneToOne
dlx3b 35
  • 69.92 (n)
  • 72.56 (a)
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

(13) 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
rs760088 -- 49,993,061(-) GGCGA(A/G)TGTGT intron-variant
rs3803877 -- 49,990,191(+) CCCAC(A/T)TCTCT intron-variant, utr-variant-3-prime
rs4793624 -- 49,982,413(+) TGGGT(A/G)ATGGG intron-variant
rs5820794 -- 49,979,450(+) CGGGG(-/A/C)GGGGG intron-variant
rs7214908 -- 49,984,671(+) CCTGG(A/C)CCTTC intron-variant

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

Variation tolerance for DLX3 Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.26; 25.26% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(16) MalaCards diseases for DLX3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iv
  • amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism
trichodontoosseous syndrome
  • tricho-dento-osseous syndrome
tricho-dento-osseous syndrome
  • enamel hypoplasia and hypocalcification with associated strikingly curly hair
taurodontism
  • bull teeth
amelogenesis imperfecta, type iia4
  • amelogenesis imperfecta, hypomaturation type, iia4
- elite association - COSMIC cancer census association via MalaCards
Search DLX3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for DLX3

Genetic Association Database (GAD)
DLX3
Human Genome Epidemiology (HuGE) Navigator
DLX3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLX3
genes like me logo Genes that share disorders with DLX3: view

No data available for Genatlas for DLX3 Gene

Publications for DLX3 Gene

  1. 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 67
  2. Uncombable hair and atopic dermatitis in a case of trichodento-osseous syndrome. (PMID: 20151948) Mayer D.E. … Jarisch R. (J Dtsch Dermatol Ges 2010) 3 23
  3. Homeodomain protein Dlx3 induces phosphorylation-dependent p63 degradation. (PMID: 19282665) Di Costanzo A. … CalabrA^ V. (Cell Cycle 2009) 3 23
  4. Molecular consequences of a frameshifted DLX3 mutant leading to Tricho-Dento-Osseous syndrome. (PMID: 18492670) Duverger O. … Morasso M.I. (J. Biol. Chem. 2008) 3 23
  5. DLX3 mutation in a new family and its phenotypic variations. (PMID: 18362318) Lee S.K. … Kim J.W. (J. Dent. Res. 2008) 3 23

Products for DLX3 Gene

Sources for DLX3 Gene

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