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
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

Genomic context

Location:: 17q21.33

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	17	NC_000017.11 (49990005..49995224, complement)
105	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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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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 FunctionsWhat's a GeneRIF?

our studies demonstrate that DLX3 physically interacts with GCM1 and inhibits its transactivation activity, suggesting that DLX3 and GCM1 may form a complex to functionally regulate placental cell function through modulation of target gene expression.
Title: DLX3 interacts with GCM1 and inhibits its transactivation-stimulating activity in a homeodomain-dependent manner in human trophoblast-derived cells.
Our research of DLX3 mutation protecting aging-related bone loss opens the possibility of its therapeutic potential in bone regeneration and bone loss disease.
Title: Senescence: novel insight into DLX3 mutations leading to enhanced bone formation in Tricho-Dento-Osseous syndrome.
DLX3 expression specifically modulates regulatory networks such as Wnt signaling, phosphatase activity and cell adhesion.
Title: A novel DLX3-PKC integrated signaling network drives keratinocyte differentiation.
Novel de novo mutation of DLX3 significantly decreases the proliferation rate and inhibits the odontogenic differentiation and mineralization of hDPCs, suggesting that this novel mutation of DLX3 can influence the dentinogenesis in TDO syndrome.
Title: DLX3 mutation negatively regulates odontogenic differentiation of human dental pulp cells.
DLX3 regulates bone marrow mesenchymal stem cell proliferation through H19/miR-675 axis.
Title: DLX3 promotes bone marrow mesenchymal stem cell proliferation through H19/miR-675 axis.
Data establish the DLX3-p53 interplay as a major regulatory axis in epidermal differentiation and suggest that DLX3 is a modulator of skin carcinogenesis.
Title: The homeoprotein DLX3 and tumor suppressor p53 co-regulate cell cycle progression and squamous tumor growth.
Identify a novel cis-acting sequence (-369 to -320) at the placental growth factor promoter, which was critical for mediating the basal and DLX3/GCM1-dependent PGF promoter activities.
Title: Dlx3 and GCM-1 functionally coordinate the regulation of placental growth factor in human trophoblast-derived cells.
We showed that the supplementation of the osteogenic differentiation medium with PTHrP inhibited the alkaline phosphatase activity and the expression of the transcription factor DLX3, but the depletion of PTHrP did not support the differentiation of DFCs.We showed that SUFU (Suppressor Of Fused Homolog) was not regulated during the osteogenic differentiation in DFCs
Title: The parathyroid hormone-related protein is secreted during the osteogenic differentiation of human dental follicle cells and inhibits the alkaline phosphatase activity and the expression of DLX3.
we identified a recurrent 2-bp deletion in the DLX3 gene in a new family and described their mild clinical phenotype related to the DLX3 mutation.
Title: Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta.
genetic analysis revealed a novel de novo missense mutation c.533A>G (p.Q178R) in the conserved homeodomain of the DLX3 gene. This DLX3 mutation is the sixth causative mutation for TDO to be identified so far.
Title: Morphological analyses and a novel de novo DLX3 mutation associated with tricho-dento-osseous syndrome in a Chinese family.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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
Amelogenesis imperfecta, type IV 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

Homology

Homologs of the DLX3 gene: The DLX3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 230 organisms have orthologs with human gene DLX3
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
chromatin binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
blood vessel development	IEA Inferred from Electronic Annotation more info
odontoblast differentiation	IEA Inferred from Electronic Annotation more info
odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
placenta development	IEA Inferred from Electronic Annotation more info
positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation 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_023063.1 RefSeqGene

Range

5001..10220

Download

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

O60479

Related

ENSP00000389870.2, ENST00000434704.2

Conserved Domains (3) summary

pfam00046
Location:132 → 185

Homeobox; Homeobox domain

pfam12413
Location:27 → 107

DLL_N; Homeobox protein distal-less-like N terminal

cl27820
Location:109 → 232

Abdominal-A; Homeobox protein