DLX5 distal-less homeobox 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DLX5provided by HGNC
Official Full Name: distal-less homeobox 5provided by HGNC
Primary source: HGNC:HGNC:2918
See related: Ensembl:ENSG00000105880 MIM:600028
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: SHFM1; SHFM1D
Summary: This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
Expression: Biased expression in endometrium (RPKM 4.3), placenta (RPKM 4.0) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (97020396..97024831, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (96649708..96654143, complement)

Chromosome 7 - NC_000007.14 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 Functions

What's a GeneRIF?

Inhibition of microRNA-27b-3p relieves osteoarthritis pain via regulation of KDM4B-dependent DLX5.
Title: Inhibition of microRNA-27b-3p relieves osteoarthritis pain via regulation of KDM4B-dependent DLX5.
Distal-Less Homeobox 5 Is a Therapeutic Target for Attenuating Hypertrophy and Apoptosis of Mesenchymal Progenitor Cells.
Title: Distal-Less Homeobox 5 Is a Therapeutic Target for Attenuating Hypertrophy and Apoptosis of Mesenchymal Progenitor Cells.
activation of the DLX5/KDM4B signaling pathway might serve as an intrinsic mechanism that promotes tissue regeneration mediated by dental-derived mesenchymal stem cells.
Title: Distal-less homeobox 5 promotes the osteo-/dentinogenic differentiation potential of stem cells from apical papilla by activating histone demethylase KDM4B through a positive feedback mechanism.
Inhibition of STAT5A promotes osteogenesis by DLX5 regulation.
Title: Inhibition of STAT5A promotes osteogenesis by DLX5 regulation.
Children with biobehavioral reactivity to challenge and were inhibited were found to have decreased DNA methylation of the DLX5 and IGF2 genes at both time points, as compared to non-reactive, disinhibited children.
Title: Children's biobehavioral reactivity to challenge predicts DNA methylation in adolescence and emerging adulthood.
Our data suggest that loss of DLX5, TLX1 and HOXA10 expression in late gestation is required for proper placental differentiation and function.
Title: Increased methylation and decreased expression of homeobox genes TLX1, HOXA10 and DLX5 in human placenta are associated with trophoblast differentiation.
Our results in mice suggest that long-range DLX5 enhancer elements located in the human SLC25A13 gene may underlie the sensorineural hearing loss that is sometimes associated with SHFM1.
Title: Deletion of a Long-Range <i>Dlx5</i> Enhancer Disrupts Inner Ear Development in Mice.
These results indicate activation of DLX5 and RUNX2 via its distal promoter represents a unique feature of GFs, and is important for ECM regulation. Down-regulation of these transcription factors in PAFs could be associated with their property to degrade collagen, which may impact on the process of periodontitis.
Title: Transcriptome analysis of periodontitis-associated fibroblasts by CAGE sequencing identified DLX5 and RUNX2 long variant as novel regulators involved in periodontitis.
these findings indicate that, in MSCs, DLX5 is a master regulator of osteogenesis. Furthermore, tanshinone IIA may be valuable for stem cell-based therapies of certain bone diseases.
Title: Distal-less homeobox 5 is a master regulator of the osteogenesis of human mesenchymal stem cells.
As a result of disturbed imprinting, the upregulated DLX5 affects trophoblast proliferation in preeclampsia.
Title: Disturbed Placental Imprinting in Preeclampsia Leads to Altered Expression of DLX5, a Human-Specific Early Trophoblast Marker.

Submit: New GeneRIF Correction See all GeneRIFs (38)

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
Split-hand/foot malformation 1 MedGen: C2931019 OMIM: 183600 GeneReviews: Not available	Compare labs
Split-hand/foot malformation 1 with sensorineural hearing loss MedGen: C1857344 OMIM: 220600 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-05-14) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-05-14) ClinGen Genome Curation Page

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

Dlx5 (e-PCR), detects polymorphism
- UniSTS:498467

RH69322 (e-PCR)
- UniSTS:8489

Dlx5 (e-PCR), detects polymorphism
- UniSTS:471089

DLX5_2316 (e-PCR)
- UniSTS:280646

D7S527 (e-PCR), detects polymorphism
- UniSTS:28778

MARC_9717-9718:996688547:1 (e-PCR)
- UniSTS:269979

DLX6 (e-PCR)
- UniSTS:44196

Dlx5 (e-PCR), detects polymorphism
- UniSTS:506853

Homology

Homologs of the DLX5 gene: The DLX5 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 353 organisms have orthologs with human gene DLX5
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables HMG box domain binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in anatomical structure formation involved in morphogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to BMP stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryo development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endochondral ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in face morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in interneuron axon guidance	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in olfactory bulb interneuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in olfactory pit development	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in roof of mouth development	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed

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

General protein information

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Preferred Names: homeobox protein DLX-5

Names: distal-less homeo box 5; split hand/foot malformation type 1 with sensorineural hearing loss

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_009220.1 RefSeqGene

Range

5001..9436

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1279

mRNA and Protein(s)

NM_005221.6 → NP_005212.1 homeobox protein DLX-5

See identical proteins and their annotated locations for NP_005212.1

Status: REVIEWED

Source sequence(s)

BC006226, DB280023

Consensus CDS

CCDS5647.1

UniProtKB/Swiss-Prot

P56178

UniProtKB/TrEMBL

Q53Y73

Related

ENSP00000498116.1, ENST00000648378.1

Conserved Domains (2) summary

pfam00046
Location:140 → 193

Homeobox; Homeobox domain

pfam12413
Location:32 → 118

DLL_N; Homeobox protein distal-less-like N terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p13 Primary Assembly

Range

97020396..97024831 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005250185.3 → XP_005250242.1 homeobox protein DLX-5 isoform X1

Conserved Domains (1) summary

pfam00046
Location:12 → 65

Homeobox; Homeobox domain
XM_017011803.1 → XP_016867292.1 homeobox protein DLX-5 isoform X1

Conserved Domains (1) summary

pfam00046
Location:12 → 65

Homeobox; Homeobox domain