DLX3 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
DLX3
Official Name
distal-less homeobox 3 [Source:HGNC Symbol;Acc:HGNC:2916]
Ensembl ID
ENSG00000064195
Bio databases IDs NCBI: 1747 Ensembl: ENSG00000064195
Aliases distal-less homeobox 3
Synonyms AI4, distal-less homeobox 3, TDO
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DLX3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
  • transcription regulator
  • nucleic acid binding
  • Homeobox protein distal-less-like N terminal
  • nuclear localization sequence
  • chromatin binding
  • protein binding
  • sequence-specific DNA binding
  • DNA binding
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • double-stranded DNA binding
  • homeodomain
  • transcription factor activity

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • benign neoplasia
  • hypoplasia
  • skin neoplasia
  • leiomyomatosis
  • carcinoma
  • adenocarcinoma
  • skin squamous cell carcinoma
  • squamous cell skin cancer
  • psoriasis
regulates
role in cell
  • proliferation
  • activation in
  • migration
  • expression in
  • degradation in
  • differentiation
  • production in
  • accumulation
  • transcription in
  • transactivation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • Cytoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DLX3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • embryo development
  • odontogenesis of dentin-containing tooth
  • placenta development
  • positive regulation of transcription from RNA polymerase II promoter
  • regulation of transcription from RNA polymerase II promoter
  • epithelial cell differentiation
  • blood vessel development
  • BMP signaling pathway
  • Wnt receptor signaling pathway
  • hair follicle morphogenesis
  • gene expression
  • odontoblast differentiation
  • hair follicle cell proliferation
  • hair cell differentiation

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • chromatin

Molecular Function

What the gene product does at the molecular level
  • DNA binding
  • sequence-specific DNA binding transcription factor activity
  • protein binding
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • transcription regulatory region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • chromatin binding
  • sequence-specific DNA binding RNA polymerase II transcription factor activity

Gene-Specific Assays for Results You Can Trust

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