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; AllianceGenome:HGNC:2918
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:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (97020396..97024831, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (98250072..98254502, complement)
RS_2024_09	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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.
Title: Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.
Identification and functional analysis of changes to the ox-LDL-induced microRNA-124-3p/DLX5 axis in vascular smooth muscle cells.
Title: Identification and functional analysis of changes to the ox-LDL-induced microRNA-124-3p/DLX5 axis in vascular smooth muscle cells.
Activation of bivalent factor DLX5 cooperates with master regulator TP63 to promote squamous cell carcinoma.
Title: Activation of bivalent factor DLX5 cooperates with master regulator TP63 to promote squamous cell carcinoma.
Dlx5 promotes cancer progression through regulation of CCND1 in oral squamous cell carcinoma (OSCC).
Title: Dlx5 promotes cancer progression through regulation of CCND1 in oral squamous cell carcinoma (OSCC).
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.

Submit: New GeneRIF Correction See all GeneRIFs (42)

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
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
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
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
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
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
enables transcription cis-regulatory region binding	IEA Inferred from Electronic Annotation more info

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

B7Z4P3, P56178, Q9UPL1

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

97020396..97024831 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005250185.4 → XP_005250242.1 homeobox protein DLX-5 isoform X1

Conserved Domains (1) summary

pfam00046
Location:12 → 65

Homeobox; Homeobox domain
XM_017011803.2 → XP_016867292.1 homeobox protein DLX-5 isoform X1

Conserved Domains (1) summary

pfam00046
Location:12 → 65

Homeobox; Homeobox domain