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 DLX2 Gene

Aliases for DLX2 Gene

  • Distal-Less Homeobox 2 2 3 5
  • Distal-Less Homeo Box 2 2 3
  • Homeobox Protein DLX-2 3 4
  • TES-1 2 3
  • TES1 3
  • DLX2 5

External Ids for DLX2 Gene

Previous GeneCards Identifiers for DLX2 Gene

  • GC02M171016
  • GC02M171625
  • GC02M172929
  • GC02M173166
  • GC02M172789
  • GC02M172672
  • GC02M164844
  • GC02M172964

Summaries for DLX2 Gene

Entrez Gene Summary for DLX2 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. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]

GeneCards Summary for DLX2 Gene

DLX2 (Distal-Less Homeobox 2) is a Protein Coding gene. Diseases associated with DLX2 include Axenfeld-Rieger Syndrome and Dental Fluorosis. Among its related pathways are Preimplantation Embryo and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. 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 DLX2 Gene

  • Acts as a transcriptional activator. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. 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 DLX2 Gene

Additional gene information for DLX2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLX2 Gene

Genomics for DLX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DLX2 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
GH02J172092 Promoter/Enhancer 3 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 611.9 +4.5 4541 10.9 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 DLX2 DLX2-DT DCAF17 DAP3P2 RPS15P4 METAP1D HAT1 ITGA6 ITGA6-AS1 DLX1
GH02J172103 Enhancer 1.1 ENCODE dbSUPER 600.7 -1.1 -1108 0.2 GATAD2A CTCF PRDM10 ZNF512 NFKBIZ ZNF692 JUND ZNF143 PHF21A PKNOX1 DLX2 DLX2-DT ENSG00000232555 ITGA6
GH02J172104 Enhancer 0.9 ENCODE 600.7 -1.2 -1216 0 GATAD2A CTCF ZNF512 NFKBIZ ZNF692 JUND ZNF143 PHF21A ZNF24 REST DLX2 DLX2-DT ENSG00000232555 ITGA6
GH02J172071 Enhancer 1.4 VISTA UCNEbase Ensembl CraniofacialAtlas 12 +30.0 30012 2.2 POLR2A FOXA2 ZBTB17 HHEX FOXP1 FOXA1 BCL6 FEZF1 PRDM6 NFIA DLX2 DLX2-DT METAP1D SLC25A12 HAT1 DLX1
GH02J171707 Promoter/Enhancer 1.1 EPDnew Ensembl 12.3 +395.1 395099 3.2 ZNF221 CTCF PRDM10 FOXA1 REST RAD21 ATF7 ZNF561 ZBTB44 ARID3A DYNC1I2 DCAF17 DLX2 DLX2-DT piR-60885-064 HAT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLX2

Top Transcription factor binding sites by QIAGEN in the DLX2 gene promoter:
  • AREB6
  • Arnt
  • IRF-2
  • MAZR
  • NF-1
  • NF-kappaB1
  • Nkx2-5
  • Nkx5-1
  • POU6F1 (c2)
  • RSRFC4

Genomic Locations for DLX2 Gene

Genomic Locations for DLX2 Gene
chr2:172,099,438-172,102,900
(GRCh38/hg38)
Size:
3,463 bases
Orientation:
Minus strand
chr2:172,964,166-172,967,628
(GRCh37/hg19)
Size:
3,463 bases
Orientation:
Minus strand

Genomic View for DLX2 Gene

Genes around DLX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLX2 Gene

Proteins for DLX2 Gene

  • Protein details for DLX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07687-DLX2_HUMAN
    Recommended name:
    Homeobox protein DLX-2
    Protein Accession:
    Q07687
    Secondary Accessions:
    • B4DMK4
    • B7ZA14

    Protein attributes for DLX2 Gene

    Size:
    328 amino acids
    Molecular mass:
    34243 Da
    Quaternary structure:
    • Interacts (via homeobox DNA-binding domain) with POU4F2; this interaction enhances retinal ganglion cell (RGC) differentiation.

    Alternative splice isoforms for DLX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLX2 Gene

Post-translational modifications for DLX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DLX2 Gene

Domains & Families for DLX2 Gene

Gene Families for DLX2 Gene

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

Protein Domains for DLX2 Gene

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

Suggested Antigen Peptide Sequences for DLX2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79028, highly similar to Homeobox protein DLX-2 (B7ZA14_HUMAN)
  • Homeobox protein DLX-2 (DLX2_HUMAN)
  • cDNA FLJ75693, highly similar to Homo sapiens distal-less homeo box 2 (DLX2), mRNA (Q53QU7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07687

UniProtKB/Swiss-Prot:

DLX2_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 DLX2: view

Function for DLX2 Gene

Molecular function for DLX2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional activator. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. 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 Dlx2,homeo domain encoding gene,expressed in the forebrain,facial and limb primordia

Phenotypes From GWAS Catalog for DLX2 Gene

Gene Ontology (GO) - Molecular Function for DLX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with DLX2: view
genes like me logo Genes that share phenotypes with DLX2: view

Animal Models for DLX2 Gene

MGI Knock Outs for DLX2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLX2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLX2 Gene

Localization for DLX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLX2 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 DLX2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DLX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with DLX2: view

Pathways & Interactions for DLX2 Gene

genes like me logo Genes that share pathways with DLX2: view

Pathways by source for DLX2 Gene

SIGNOR curated interactions for DLX2 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DLX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
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 --
GO:0007420 brain development TAS 7590232
genes like me logo Genes that share ontologies with DLX2: view

Drugs & Compounds for DLX2 Gene

No Compound Related Data Available

Transcripts for DLX2 Gene

mRNA/cDNA for DLX2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLX2

Alternative Splicing Database (ASD) splice patterns (SP) for DLX2 Gene

No ASD Table

Relevant External Links for DLX2 Gene

GeneLoc Exon Structure for
DLX2

Expression for DLX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DLX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLX2 Gene

This gene is overexpressed in Brain - Hypothalamus (x7.6), Brain - Anterior cingulate cortex (BA24) (x4.7), and Brain - Cortex (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DLX2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLX2

SOURCE GeneReport for Unigene cluster for DLX2 Gene:

Hs.419

Evidence on tissue expression from TISSUES for DLX2 Gene

  • Nervous system(4.6)
  • Intestine(4.4)
  • Skin(2.7)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with DLX2: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLX2 Gene

Orthologs for DLX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLX2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DLX2 30 31
  • 98.17 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DLX2 30 31
  • 90.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DLX2 30 31
  • 89.47 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dlx2 30 17 31
  • 88.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dlx2 30
  • 88.38 (n)
Oppossum
(Monodelphis domestica)
Mammalia DLX2 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DLX2 31
  • 75 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DLX2 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dlx2 30
  • 70.18 (n)
Str.9796 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.721 30
Zebrafish
(Danio rerio)
Actinopterygii dlx2a 30 31
  • 68.52 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3918 30
Fruit Fly
(Drosophila melanogaster)
Insecta Dll 31
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ceh-43 31
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
ManyToMany
CSA.6494 31
  • 14 (a)
ManyToMany
Species where no ortholog for DLX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 DLX2 Gene

ENSEMBL:
Gene Tree for DLX2 (if available)
TreeFam:
Gene Tree for DLX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLX2: view image

Paralogs for DLX2 Gene

Paralogs for DLX2 Gene

(6) SIMAP similar genes for DLX2 Gene using alignment to 3 proteins:

  • DLX2_HUMAN
  • B7ZA14_HUMAN
  • Q53QU7_HUMAN
genes like me logo Genes that share paralogs with DLX2: view

Variants for DLX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLX2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
722697 Benign: not provided 172,102,284(-) C/G SYNONYMOUS_VARIANT
722902 Likely Benign: not provided 172,100,639(-) C/A SYNONYMOUS_VARIANT
741970 Benign: not provided 172,101,552(-) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DLX2 Gene

Variation tolerance for DLX2 Gene

Residual Variation Intolerance Score: 63.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.86; 58.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLX2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DLX2 Gene

Disorders for DLX2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for DLX2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
axenfeld-rieger syndrome
  • ars
dental fluorosis
  • intrinsic enamel discolouration of fluorosis
tooth agenesis
  • familial tooth agenesis
acrofacial dysostosis, cincinnati type
  • afdcin
syngnathia
  • cleft palate-lateral synechia syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DLX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DLX2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DLX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLX2 Gene

Publications for DLX2 Gene

  1. The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. (PMID: 18728693) Liu X … Holden JJ (European journal of human genetics : EJHG 2009) 3 23 41
  2. Cloning and characterization of two members of the vertebrate Dlx gene family. (PMID: 7907794) Simeone A … Huebner K (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 23
  3. The human brain homeogene, DLX-2: cDNA sequence and alignment with the murine homologue. (PMID: 7901126) Selski DJ … Rogers KE (Gene 1993) 3 4 23
  4. DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to conserved regions on human and mouse chromosomes 2. (PMID: 1354641) Ozçelik T … Francke U (Genomics 1992) 2 3 23
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41

Products for DLX2 Gene

Sources for DLX2 Gene