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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DLX5 Gene

protein-coding GIFtS: 62
GCID: GC07M096649

distal-less homeobox 5

(Previous name: distal-less homeo box 5 )

Explore 18 diseases affiliated with
DLX5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Distal-Less Homeobox 5¹ ²
Distal-Less Homeo Box 5¹ ²
SHFM1D²
Homeobox Protein DLX-5²
Split Hand/Foot Malformation Type 1 With Sensorineural Hearing Loss²

External Ids:	HGNC: 2918¹	Entrez Gene: 1749²	Ensembl: ENSG00000105880⁷	OMIM: 600028⁵	UniProtKB: P56178³

Export aliases for DLX5 gene to outside databases

Previous GC identifers: GC07M095184 GC07M096247 GC07M096261 GC07M096294 GC07M096487 GC07M091251

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DLX5:

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)

UniProtKB/Swiss-Prot: DLX5_HUMAN, P56178

Function: Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive

transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a

RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast

differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator

of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response

element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for

DNA-binding

Gene Wiki entry for DLX5

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DLX5 gene promoter:
c-Fos PPAR-gamma1 AP-1 ATF-2 MyoD c-Jun PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DLX5 promoter sequence

Search SABiosciences Chromatin IP Primers for DLX5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLX5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.3

DLX5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLX5 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M096649: view genomic region (about GC identifiers)

Start:	96,649,702 bp from pter	End:	96,654,409 bp from pter
Size:	4,708 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 95,972,198-95,976,639

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DLX5_HUMAN, P56178 (See protein sequence)

Recommended Name: Homeobox protein DLX-5

Size: 289 amino acids; 31540 Da

Subunit: Interacts with XRCC6 (Ku70)

Subcellular location: Nucleus (By similarity)

Developmental stage: First expressed in embryos at 8.5-9 days in facial and branchial arch mesenchyme, otic vesicles

and frontonasal ectoderm around olfactory placodes, a day later expression is seen in the developing forebrain in

primordia of the ganglionic eminence and ventral diencephalic regions. In day 12.5 embryos, expressed in the brain and

bones, and also in all skeletal structures of midgestation embryos after the first cartilage formation. Expression

remains unaltered in both brain and skeleton in day 15 embryos and slowly decreases in day 17 embryos

1 PDB 3D structure from and Proteopedia for DLX5:

2DJN (3D)

Secondary accessions: Q9UPL1

Explore the universe of human proteins at neXtProt for DLX5: NX_P56178

Post-translational modifications:

Phosphorylated. Phosphorylation of Ser-34 and Ser-217 by MAPK14 enhances its transcriptional activity. Phosphorylation

by CaMK2 increases its protein stability (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P56178

DLX5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005212.1

ENSEMBL proteins:

ENSP00000222598

Human Recombinant Protein Products for DLX5:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: DLX5 OriGene Custom Protein Services for DLX5
	GenScript Custom Purified and Recombinant Proteins Services for DLX5
	Novus Biologicals DLX5 Protein Novus Biologicals DLX5 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DLX5

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000790	nuclear chromatin	ISS	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IEA	--

DLX5 for ontologies About GeneDecksing

DLX5 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DLX5
	R&D Systems Antibodies for DLX5
	OriGene Antibodies (see all 2): DLX5 OriGene Custom Antibody Services for DLX5
	GenScript Custom Superior Antibodies Services for DLX5
	Novus Biologicals DLX5 Antibodies
	Abcam antibodies for DLX5
	Uscn Antibodies for DLX5
	ThermoFisher Antibodies for DLX5

Assay Products for DLX5:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DLX5
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DLX5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DLX5 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR000047 HTH_motif

IPR022135 Distal-less_N

IPR017970 Homeobox_CS

IPR020479 Homeobox_metazoa

IPR001356 Homeodomain

Graphical View of Domain Structure for InterPro Entry P56178

ProtoNet protein and cluster: P56178

1 Blocks protein family: IPB000047 Lambda and other repressor helix-turn-helix signature

UniProtKB/Swiss-Prot: DLX5_HUMAN, P56178

Similarity: Belongs to the distal-less homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DLX5_HUMAN, P56178

Function: Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive

transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a

RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast

differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator

of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response

element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for

DNA-binding

Genatlas biochemistry entry for DLX5:

Drosophila distal less homolog Dlx5,homeo domain encoding gene,expressed in brain and skeleton

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000976	transcription regulatory region sequence-specific DNA binding	--	--
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	ISS	--
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	ISS	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	--	--

DLX5 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for DLX5:

Decreased nuclei size in G2M

15/18 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Dlx5) (see all 18):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	growth/size	hearing/vestibular/ear	integument	limbs/digits/tail
mortality/aging	muscle	nervous system	normal	respiratory system

DLX5 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Dlx5^tm1Jlr for DLX5

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DLX5

miRNA Products:		miRTarBase miRNAs that target DLX5: hsa-mir-200a (MIRT000204), hsa-mir-141 (MIRT000320)

		OriGene 3'-UTR Clone: DLX5 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLX5
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate DLX5 (see all 13):
		hsa-miR-203 hsa-miR-3607-3p hsa-miR-376b hsa-let-7i* hsa-miR-767-5p hsa-miR-376a hsa-miR-124 hsa-miR-582-5p

		SwitchGear 3'UTR luciferase reporter plasmid: DLX5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DLX5 (see all 7) OriGene shRNA RFP: DLX5 OriGene siRNA: DLX5
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLX5
		Sirion Biotech Custom design and validation of potent shRNA sequences against DLX5

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DLX5
			Sirion Biotech Customized adenovirus for overexpression of DLX5 Sirion Biotech Customized adenovirus for potent knockdown of DLX5

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLX5 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLX5 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DLX5 (NM_005221)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLX5
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLX5

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DLX5
		LifeMap BioReagents: cell line associated with DLX5: PureStem MEL2, NCr-fac Progenitor
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLX5

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Transcription factors in neurogenesis

Transcription factors in neurogenesis

1.00

Neural Crest Differentiation

Neural Crest Differentiation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for DLX5

Transcription factors in neurogenesis

1 BioSystems Pathway for DLX5

Neural Crest Differentiation

DLX5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DLX5

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/16 Interacting proteins for DLX5 (P56178³ ENSP00000222598⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAGED1	Q9Y5V3³, ENSP00000364847⁴	I2D: score=3 STRING: ENSP00000364847
MSX1	P28360³, ENSP00000372170⁴	I2D: score=1 STRING: ENSP00000372170
NCOA2	Q15596³, ENSP00000399968⁴	I2D: score=1 STRING: ENSP00000399968
SPEN	Q96T58³, ENSP00000364912⁴	I2D: score=1 STRING: ENSP00000364912
DLX2	Q07687³, ENSP00000234198⁴	I2D: score=1 STRING: ENSP00000234198

About this table

Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	7907794
GO:0001649	osteoblast differentiation	ISS	--
GO:0001958	endochondral ossification	ISS	--
GO:0006351	transcription, DNA-dependent	--	--
GO:0006355	regulation of transcription, DNA-dependent	--	--

DLX5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DLX5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DLX5
3 Novoseek chemical compound relationships for DLX5 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gaba	21.6	6	16225832 (1), 17363207 (1), 18302128 (1)
cycloheximide	10.5	2	16949358 (1), 12815054 (1)
dexamethasone	8.41	7	16949358 (4)

Search CenterWatch for drugs/clinical trials and news about DLX5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DLX5 gene:

NM_005221.5

Unigene Cluster for DLX5:

Distal-less homeobox 5

Hs.99348 [show with all ESTs]

Unigene Representative Sequence: NM_005221

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000222598(uc003uon.3) ENST00000493764 ENST00000486603(uc011kim.1)

miRNA Products:		OriGene 3'-UTR Clone: DLX5 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLX5
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate DLX5 (see all 13):
		hsa-miR-203 hsa-miR-3607-3p hsa-miR-376b hsa-let-7i* hsa-miR-767-5p hsa-miR-376a hsa-miR-124 hsa-miR-582-5p

		SwitchGear 3'UTR luciferase reporter plasmid: DLX5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DLX5 (see all 7) OriGene shRNA RFP: DLX5 OriGene siRNA: DLX5
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DLX5
		Sirion Biotech Custom design and validation of potent shRNA sequences against DLX5

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLX5 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLX5 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DLX5 (NM_005221)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DLX5
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DLX5

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DLX5 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DLX5
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLX5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLX5

Additional cDNA sequence:

AK023493.1 AK297614.1 BC006226.2 BT006903.1

3 DOTS entries:

DT.110740 DT.95257721 DT.92018316

24/53 AceView cDNA sequences (see all 53):

CR593435 CA412924 BI914024 BQ573773 BC006226 CR609058 CF530066 NM_005221

BF059057 BU198017 BT006903 AA369050 BI914908 BG054868 BX431520 AK023493

AA453884 BI913693 BQ771908 AA453799 AL535526 BM044832 BX453494 AI278397

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DLX5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAATAAGTG

About this image

DLX5 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/42 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 42)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Head Mesenchyme

Prechordal Mesenchyme

Diencephalic Neural Crest Cells

Selective marker (cell-identifying gene)

Neural Crest

Bone

Autopod Periosteum

Endochondral Osteoblasts

Bone

Autopod Periosteum

Immature Endochondral Osteoblasts

Bone

Caudal Endochondral Bones

Endochondral Preosteoblasts

Bone

Caudal Endochondral Bones

Hypertrophic Chondrocytes

Bone, Cartilage

Bone

Caudal Endochondral Bones

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone

Cervical Vertebrae

Endochondral Osteoblasts

Bone

Cervical Vertebrae

Immature Endochondral Osteoblasts

Bone

Endochondral Facial Bones

Hypertrophic Chondrocytes

Bone, Cartilage

Bone

Endochondral Facial Bones

Prehypertrophic Chondrocytes

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

N2/LSB/S/F8-induced cells (Generation of midbra...)

Syncytiotrophoblast-like cells (Generation of syncyt...)

HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See DLX5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DLX5

SOURCE GeneReport for Unigene cluster: Hs.99348

SABiosciences Expression via Pathway-Focused PCR Arrays including DLX5:

Osteogenesis in human mouse rat

Homeobox (HOX) Genes in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DLX5 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DLX5
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DLX5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLX5

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLX5

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for DLX5 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DLX5¹	distal-less homeobox 5	83.8(n) 86.71(a)		373969 NM_204159.1 NP_989490.1
lizard (Anolis carolinensis)	Reptilia	DLX5⁶	--	80(a)	1 ↔ 1	6(23267141-23277148)
African clawed frog (Xenopus laevis)	Amphibia	Xl.18401²	Xenopus laevis putative transcription factor DLL3 mRNA, more	76.94(n)		L09729.1
zebrafish (Danio rerio)	Actinopterygii	dlx5a²	distal-less homeobox gene 5a	79.21(n)		30569 NM_131306.1
worm (Caenorhabditis elegans)	Secernentea	ceh-43¹	Protein CEH-43	44.61(n) 44.95(a)		175581 NM_065503.2 NP_497904.1

ENSEMBL Gene Tree for DLX5 (if available)
TreeFam Gene Tree for DLX5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DLX5 gene

DLX2² BARX1² BSX² DLX6² BARHL2² BARHL1² DLX4² BARX2²

DLX1² MSX2² MSX1² DLX3²

5 SIMAP similar genes for DLX5 using alignment to 2 protein entries: DLX5_HUMAN (see all proteins):

DLX3 DLX2 DLX6 DLX1 POU6F1

DLX5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs143444394^1,2	C	--	91251259(+)	`CCAGT-/TATC AGAGG`	1	--	ds500¹		0	--	--	--	--
rs982346^1,2	C,F,H	--	95971871(+)	`TCAGAG/AGGGTT`	1	--	ds500¹		23		NA NS EA WA	2728
rs77382615^1,2	C	--	95972380(+)	`AAAAAA/GGGGGG`	1	--	ut3¹		0	--	--	--	--
rs112772747^1,2	C	--	95972380(+)	`AAAAAG/-GGGGG`	1	--	ut3¹		1		CSA	2
rs75624442^1,2		--	95974336(+)	`ATGCAC/TCTACC`	1	--	int¹		0	--	--	--	--
rs79039650^1,2	F	--	95974345(+)	`CCCCAA/CATATG`	1	--	int¹		1		WA	118
rs9769385^1,2	C,F,H	--	95974481(+)	`TCCCGG/AACTTG`	1	--	int¹		18		NS EA NA WA CSA	2154
rs111564934^1,2	C,F	--	95974712(+)	`CAGCAG/AGCGGT`	1	--	int¹		2		NA	4
rs76038366^1,2	F	--	95974915(+)	`CCCGGG/TGCTCT`	1	--	int¹		1		WA	118
rs75290158^1,2		--	95974955(+)	`GAGAAA/GGAACC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DLX5 (96649702 - 96654409 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DLX5: --
Human Gene Mutation Database (HGMD): DLX5

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DLX5 for disorders About GeneDecksing

OMIM gene information: 600028 OMIM disorders: --

UniProtKB/Swiss-Prot: DLX5_HUMAN, P56178

Defects in DLX5 are the cause of split-hand/foot malformation type 1, with sensorineural hearing loss (SHFM1D)

[MIM:220600]. A disease characterized by the association of split-hand/foot malformation with deafness.

Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with

syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and

metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and

orofacial clefting

18 diseases for DLX5: About MalaCards

split hand/foot malformation sensorineural hearing loss hearing loss aortic valve stenosis

mental retardation epilepsy tooth agenesis rett syndrome ectrodactyly

acute lymphoblastic leukemia lymphoblastic leukemia craniosynostosis ovarian cancer

pharyngitis leukemia lung cancer breast cancer

melanoma neuronitis

2 diseases from the University of Copenhagen DISEASES database for DLX5:

Rett syndrome Autistic disorder

1 Novoseek disease relationship for DLX5 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rett syndrome	78.4	3	17701895 (2), 17363207 (1)

Human Genome Epidemiology (HuGE) Navigator: DLX5 (3 documents)

Export disorders for DLX5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DLX5 gene, integrated from 9 sources (see all 102):
(articles sorted by number of sources associating them with DLX5)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and characterization of two members of the vertebrate Dlx gene family. (PubMed id 7907794)^{1, 2, 3, 9} Simeone A....Boncinelli E. (1994)
DLX5 (distal-less homeobox 5) promotes tumor cell proliferation by transcriptionally regulating MYC. (PubMed id 19497851)^{1, 2, 9} Xu J. and Testa J.R. (2009)
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. (PubMed id 22121204)^{1, 2} Shamseldin H.E.... Alkuraya F.S. (2012)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PubMed id 12145306)^{1, 2} Willis D.M.... Towler D.A. (2002)
Expression analysis and mutation detection of DLX5 an d DLX6 in autism. (PubMed id 19195802)^{1, 9} Nakashima N....Momoi M.Y. (2010)
DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. (PubMed id 17701895)^{1, 9} Schule B....Francke U. (2007)
Activation of placenta-specific transcription factor distal-less homeobox 5 predicts clinical outcome in primary lung cancer patients. (PubMed id 18413826)^{1, 9} Kato T....Daigo Y. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1749	HGNC: 2918	AceView: DLX5	Ensembl:ENSG00000105880	euGenes: HUgn1749
ECgene: DLX5	H-InvDB: DLX5

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DLX5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DLX5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DLX5 gene:
Search GeneIP for patents involving DLX5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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distal-less homeobox 5

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distal-less homeobox 5

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