Entity Details

Primary name DLX3
Entity type gene
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Details

PrimaryID1747
RefseqGeneNG_023063
SymbolDLX3
Namedistal-less homeobox 3
Chromosome17
Location17q21.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDLX3_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001568 blood vessel development
GO:0001890 placenta development
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0030154 cell differentiation
GO:0030855 epithelial cell differentiation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0071895 odontoblast differentiation
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
190320 OMIMTrichodentoosseous syndrome (TDO)An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. The disease is caused by variants affecting the gene represented in this entry.
104510 OMIMAmelogenesis imperfecta 4 (AI4)An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced. The disease is caused by variants affecting the gene represented in this entry.