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 memb... See more...

Aliases for DLX3 Gene

Aliases for DLX3 Gene

  • Distal-Less Homeobox 3 2 3 5
  • Homeobox Protein DLX-3 3 4
  • 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 Trichodentoosseous Syndrome and Amelogenesis Imperfecta, Type Iv. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is DLX5.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for DLX3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLX3 Gene

Genomics for DLX3 Gene

GeneHancer (GH) Regulatory Elements for DLX3 Gene

Promoters and enhancers for DLX3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J049993 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 506.1 +0.7 723 3.4 ZNF217 GABPA ZBTB26 CTBP1 ZNF341 POLR2A EZH2 PCBP1 SIN3A SP2 DLX3 SPATA20 HSALNG0117237
GH17J049996 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 500.7 -1.7 -1731 1 ZNF217 CTCF ZNF639 REST ZBTB10 ZBTB25 RAD21 CTBP1 ZBTB7A TRIM22 DLX3 ENSG00000248172 piR-52475-006
GH17J049998 Enhancer 0.5 CraniofacialAtlas 500.7 -1.1 -1113 0.2 CTCF ZBTB10 ZBTB25 SMC3 ZNF263 SMARCB1 EZH2 ETS1 IKZF5 SUZ12 DLX3 ENSG00000248172
GH17J050046 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -61.8 -61809 21.5 ZNF217 CTCF ZSCAN5C TCF12 PHF8 JUND FOS ZFX ZNF639 ZIC2 ITGA3 PICART1 ENSG00000262837 LUC7L3 FAM117A FLJ45513 PDK2 ENSG00000250282 COL1A1 DLX3
GH17J049885 Enhancer 1.3 FANTOM5 Ensembl ENCODE 14.2 +106.4 106411 6.1 EP300 ZNF217 POLR2G NCOR1 TEAD4 ZIC2 KDM6A CLOCK CHD1 ZBTB7A ENSG00000248954 ENSG00000262837 FLJ45513 DLX3 TAC4 DLX4 ENSG00000248172 RNU6-1313P LUC7L3 UBE2Z
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLX3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLX3

Top Transcription factor binding sites by QIAGEN in the DLX3 gene promoter:
  • AREB6
  • C/EBPalpha
  • COMP1
  • Lmo2
  • MyoD
  • RFX1
  • RORalpha2
  • YY1

Genomic Locations for DLX3 Gene

Genomic Locations for DLX3 Gene
chr17:49,977,079-49,995,224
(GRCh38/hg38)
Size:
18,146 bases
Orientation:
Minus strand
chr17:48,067,369-48,072,588
(GRCh37/hg19)
Size:
5,220 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:
    • Heterodimer with MEIS1.

    Three dimensional structures from OCA and Proteopedia for DLX3 Gene

neXtProt entry for DLX3 Gene

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for DLX3 Gene

Blocks:
  • Lambda and other repressor helix-turn-helix signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DLX3 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein DLX-3 (DLX3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60479

UniProtKB/Swiss-Prot:

DLX3_HUMAN :
  • Belongs to the distal-less homeobox family.
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

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.
GENATLAS Biochemistry:
Drosophila distal less homolog Dlx3,homeo domain encoding gene

Phenotypes From GWAS Catalog for DLX3 Gene

Gene Ontology (GO) - Molecular Function for DLX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IDA,IEA 26550823
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with DLX3: view
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

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLX3 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DLX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with DLX3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DLX3 Gene

Pathways & Interactions for DLX3 Gene

PathCards logo

SuperPathways for DLX3 Gene

No Data Available

SIGNOR curated interactions for DLX3 Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development 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

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for DLX3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for DLX3 Gene



Protein tissue co-expression partners for DLX3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLX3

SOURCE GeneReport for Unigene cluster for DLX3 Gene:

Hs.134194

Evidence on tissue expression from TISSUES for DLX3 Gene

  • Eye(4)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DLX3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • sinus
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DLX3: view

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 31 30
  • 100 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DLX3 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DLX3 31 30
  • 93.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DLX3 31 30
  • 93.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dlx3 30
  • 91.64 (n)
mouse
(Mus musculus)
Mammalia Dlx3 17 31 30
  • 91.17 (n)
chicken
(Gallus gallus)
Aves DLX3 31 30
  • 78.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLX3 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlx3 30
  • 65.22 (n)
Str.1302 30
African clawed frog
(Xenopus laevis)
Amphibia dlx3-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii dlx3b 31 30 30
  • 69.92 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dll 31
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-43 31
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
ManyToMany
CSA.6494 31
  • 14 (a)
ManyToMany
Species where no ortholog for DLX3 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DLX3: view image

Paralogs for DLX3 Gene

Paralogs for DLX3 Gene

(13) SIMAP similar genes for DLX3 Gene using alignment to 2 proteins:

  • DLX3_HUMAN
  • F8VXG1_HUMAN
genes like me logo Genes that share paralogs with DLX3: view

Variants for DLX3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLX3 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
712745 Benign: not provided 49,994,731(-) C/A MISSENSE_VARIANT
800783 Uncertain Significance: Tricho-dento-osseous syndrome 49,993,573(-) GCTC/G INFRAME_DELETION
rs10459948 Likely Benign: Amelogenesis Imperfecta, Dominant 49,995,132(-) G/T FIVE_PRIME_UTR_VARIANT
rs1057518764 Likely Pathogenic: Amelogenesis imperfecta; Peripheral pulmonary artery stenosis. Pathogenic: Tricho-dento-osseous syndrome; Amelogenesis imperfecta, type IV 49,991,806(-) T/TCTC/T FRAMESHIFT_VARIANT
rs11868203 Conflicting Interpretations: not specified; Amelogenesis Imperfecta, Dominant; not provided 49,991,799(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DLX3 Gene

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

Variant ID Type Subtype PubMed ID
nsv833474 CNV loss 17160897

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)

Additional Variant Information for DLX3 Gene

Human Gene Mutation Database (HGMD)
DLX3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLX3

SNP Genotyping and Copy Number Assay Products

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

Disorders for DLX3 Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for DLX3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 RJ … Wright JT (Bone 2004) 3 23 41 54
  2. Genomic structure and functional control of the Dlx3-7 bigene cluster. (PMID: 11792834) Sumiyama K … Ruddle FH (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 23 54
  3. DNA-dependent formation of transcription factor pairs alters their binding specificity. (PMID: 26550823) Jolma A … Taipale J (Nature 2015) 3 4 54
  4. Uncombable hair and atopic dermatitis in a case of trichodento-osseous syndrome. (PMID: 20151948) Mayer DE … Jarisch R (Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2010) 3 23 54
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 41 54

Products for DLX3 Gene

Sources for DLX3 Gene