DLX3 distal-less homeobox 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DLX3provided by HGNC
Official Full Name: distal-less homeobox 3provided by HGNC
Primary source: HGNC:HGNC:2916
See related: Ensembl:ENSG00000064195 MIM:600525; AllianceGenome:HGNC:2916
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AI4; TDO
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]
Expression: Biased expression in skin (RPKM 8.6), placenta (RPKM 4.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (49990005..49995224, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (50853145..50858364, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48067369..48072588, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel DLX3 mutation causes tricho-dento-osseous syndrome with abnormal enamel structure and formation.
Title: A novel DLX3 mutation causes tricho-dento-osseous syndrome with abnormal enamel structure and formation.
A heterozygous missense variant in DLX3 leads to uterine leiomyomas and pregnancy losses in a consanguineous Iranian family.
Title: A heterozygous missense variant in DLX3 leads to uterine leiomyomas and pregnancy losses in a consanguineous Iranian family.
Novel DLX3 variant identified in a family with tricho-dento-osseous syndrome.
Title: Novel DLX3 variant identified in a family with tricho-dento-osseous syndrome.
Salt Dependence of DNA Binding Activity of Human Transcription Factor Dlx3.
Title: Salt Dependence of DNA Binding Activity of Human Transcription Factor Dlx3.
The miR-4739/DLX3 Axis Modulates Bone Marrow-Derived Mesenchymal Stem Cell (BMSC) Osteogenesis Affecting Osteoporosis Progression.
Title: The miR-4739/DLX3 Axis Modulates Bone Marrow-Derived Mesenchymal Stem Cell (BMSC) Osteogenesis Affecting Osteoporosis Progression.
Loss of DLX3 tumor suppressive function promotes progression of SCC through EGFR-ERBB2 pathway.
Title: Loss of DLX3 tumor suppressive function promotes progression of SCC through EGFR-ERBB2 pathway.
Effects of DLX3 on the osteogenic differentiation of induced pluripotent stem cellderived mesenchymal stem cells.
Title: Effects of DLX3 on the osteogenic differentiation of induced pluripotent stem cell‑derived mesenchymal stem cells.
The data implied that DLX3 regulated Wnt/beta-catenin pathway through histone modification of DKK4 during the osteogenic differentiation of bone marrow mesenchymal stem cells.
Title: DLX3 regulates osteogenic differentiation of bone marrow mesenchymal stem cells via Wnt/β-catenin pathway mediated histone methylation of DKK4.
our results support a putative CD271-DLX3 connection in keratinocytes and foment further studies to identify the signaling events that orchestrate their mutual regulation in the epidermis. DLX3 and CD271 are required for fine tuning the regulation of the epidermal differentiation process.
Title: Do DLX3 and CD271 Protect Human Keratinocytes from Squamous Tumor Development?
new DLX3 variants found in families with melogenesis imperfecta with attenuated tricho-dento-osseous syndrome
Title: Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MedGen: C1863012 OMIM: 104510 GeneReviews: Not available	Compare labs
Tricho-dento-osseous syndrome MedGen: C0265333 OMIM: 190320 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC99823P1 (e-PCR)
- UniSTS:273687

DLX3_2079 (e-PCR)
- UniSTS:280645

AF028234 (e-PCR)
- UniSTS:39819

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in blood vessel development	IEA Inferred from Electronic Annotation more info
involved_in embryo development	IBA Inferred from Biological aspect of Ancestor more info
involved_in epithelial cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in hair cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in hair follicle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in hair follicle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in odontoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in placenta development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: homeobox protein DLX-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023063.2 RefSeqGene

Range

5000..10219

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005220.3 → NP_005211.1 homeobox protein DLX-3

See identical proteins and their annotated locations for NP_005211.1

Status: REVIEWED

Source sequence(s)

AC009720

Consensus CDS

CCDS11556.1

UniProtKB/Swiss-Prot

B3KQL6, O60479

UniProtKB/TrEMBL

B2R870

Related

ENSP00000389870.2, ENST00000434704.2

Conserved Domains (3) summary

COG5576
Location:109 → 232

COG5576; Homeodomain-containing transcription factor [Transcription]

pfam00046
Location:132 → 186

Homeobox; Homeobox domain

pfam12413
Location:27 → 107

DLL_N; Homeobox protein distal-less-like N terminal