Free for academic non-profit institutions. Other users need a Commercial license

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
  • TES-1 3
  • TES1 3

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 Tooth Agenesis and Split-Hand/Foot Malformation 5. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Preimplantation Embryo. 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 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 , fRNAdb sequence ontologies and piRNA Summary for DLX2 Gene

Genomics for DLX2 Gene

Regulatory Elements for DLX2 Gene

Enhancers for DLX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H172092 3.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12 +4.7 4720 10 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 DCAF17 DAP3P2 DLX2 RPS15P4 METAP1D HAT1 ENSG00000232788 ITGA6 DLX1 DYNC1I2
GH02H172071 1.8 VISTA 12 +30.2 30244 1 PRDM6 POLR2A FEZF1 HNF4A ZNF83 DLX2 DLX2-AS1 METAP1D SLC25A12 HAT1 GC02P172074
GH02H172131 0.4 ENCODE 6.5 -29.1 -29136 1 POU5F1 EZH2 DLX2 LOC105373741 DLX2-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLX2 on UCSC Golden Path with GeneCards custom track

Promoters for DLX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000126268 200 601 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 CBX5 FOS

Genomic Location for DLX2 Gene

Chromosome:
2
Start:
172,099,438 bp from pter
End:
172,102,900 bp from pter
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

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

GENATLAS Biochemistry:
Drosophila distal less homolog Dlx2,homeo domain encoding gene,expressed in the forebrain,facial and limb primordia
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.

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:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 1354641
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

Clone Products

  • Addgene plasmids for DLX2
  • Applied Biological Materials Clones for DLX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
cytoskeleton 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:0005634 nucleus IEA --
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

Gene Ontology (GO) - Biological Process for DLX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with DLX2: view

No data available for SIGNOR curated interactions for DLX2 Gene

Drugs & Compounds for DLX2 Gene

No Compound Related Data Available

Transcripts for DLX2 Gene

mRNA/cDNA for DLX2 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DLX2 Gene

Distal-less homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DLX2
  • Applied Biological Materials Clones for DLX2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for DLX2 Gene

GeneLoc Exon Structure for
DLX2
ECgene alternative splicing isoforms for
DLX2

Expression for DLX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for DLX2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DLX2 Gene:

DLX2

SOURCE GeneReport for Unigene cluster for DLX2 Gene:

Hs.419

Evidence on tissue expression from TISSUES for DLX2 Gene

  • Nervous system(4.5)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with DLX2: view

Primer Products

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 33 34
  • 98.17 (n)
dog
(Canis familiaris)
Mammalia DLX2 33 34
  • 90.08 (n)
cow
(Bos Taurus)
Mammalia DLX2 33 34
  • 89.47 (n)
mouse
(Mus musculus)
Mammalia Dlx2 33 16 34
  • 88.58 (n)
rat
(Rattus norvegicus)
Mammalia Dlx2 33
  • 88.38 (n)
oppossum
(Monodelphis domestica)
Mammalia DLX2 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLX2 34
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLX2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlx2 33
  • 70.18 (n)
Str.9796 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.721 33
zebrafish
(Danio rerio)
Actinopterygii dlx2a 33 34
  • 68.52 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3918 33
fruit fly
(Drosophila melanogaster)
Insecta Dll 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-43 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
ManyToMany
CSA.6494 34
  • 14 (a)
ManyToMany
Species where no ortholog for DLX2 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)
  • 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 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)

Paralogs for DLX2 Gene

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

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

Variants for DLX2 Gene

Sequence variations from dbSNP and Humsavar for DLX2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000356188 -- 172,099,263(+) AACCC(C/G/T)CGGTG downstream-variant-500B
rs1001472089 -- 172,101,303(+) TCCAG(-/C)TTTGG intron-variant, upstream-variant-2KB
rs1001589175 -- 172,100,824(+) CGCTG(A/G)GACTG reference, missense
rs1002206531 -- 172,099,249(+) GGGGC(A/G)GGGCG downstream-variant-500B
rs1002856405 -- 172,102,576(+) GGGCG(A/T)GCGGG upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for DLX2 Gene

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

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

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

Disorder Aliases PubMed IDs
tooth agenesis
  • familial tooth agenesis
split-hand/foot malformation 5
  • split hand-foot malformation 5
bamforth-lazarus syndrome
  • hypothyroidism, athyroidal, with spiky hair and cleft palate
split hand-foot malformation 2
  • shfm2
split-hand/foot malformation 4
  • split hand-foot malformation 4
- elite association - COSMIC cancer census association via MalaCards
Search DLX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DLX2

Genetic Association Database (GAD)
DLX2
Human Genome Epidemiology (HuGE) Navigator
DLX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLX2
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 22 45 60
  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 22 60
  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 22 60
  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 22 60
  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 45 60

Products for DLX2 Gene

  • Addgene plasmids for DLX2

Sources for DLX2 Gene

Content
Loading form....