Homo sapiens Gene: DLX3
Summary
InnateDB Gene IDBG-57980.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DLX3
Gene Name distal-less homeobox 3
Synonyms AI4; TDO
Species Homo sapiens
Ensembl Gene ENSG00000064195
Encoded Proteins
distal-less homeobox 3
distal-less homeobox 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:49990005-49995224
Strand Reverse strand
Band q21.33
Transcripts
ENST00000434704 ENSP00000389870
ENST00000512495 ENSP00000449976
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 2 [view]
Protein-DNA 10 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
Biological Process
GO:0001568 blood vessel development
GO:0001890 placenta development
GO:0042475 odontogenesis of dentin-containing tooth
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0071895 odontoblast differentiation
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.134194
RefSeq NM_005220
HUGO
OMIM
CCDS CCDS11556
HPRD 02752
IMGT
EMBL
GenPept
RNA Seq Atlas