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... See more...

Aliases for DLX5 Gene

Aliases for DLX5 Gene

  • Distal-Less Homeobox 5 2 3 5
  • Distal-Less Homeo Box 5 2 3
  • Homeobox Protein DLX-5 3 4
  • Split Hand/Foot Malformation Type 1 With Sensorineural Hearing Loss 3
  • SHFM1D 3
  • SHFM1 3
  • DLX5 5

External Ids for DLX5 Gene

Previous GeneCards Identifiers for DLX5 Gene

  • GC07M095184
  • GC07M096247
  • GC07M096261
  • GC07M096294
  • GC07M096487
  • GC07M096649
  • GC07M091251

Summaries for DLX5 Gene

Entrez Gene Summary for DLX5 Gene

  • 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]

GeneCards Summary for DLX5 Gene

DLX5 (Distal-Less Homeobox 5) is a Protein Coding gene. Diseases associated with DLX5 include Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive and Split-Hand/Foot Malformation 1. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and MECP2 and Associated Rett Syndrome. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is DLX3.

UniProtKB/Swiss-Prot Summary for DLX5 Gene

  • 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 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLX5 Gene

Genomics for DLX5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DLX5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J097018 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +2.6 2649 7.4 ZNF600 ZNF580 ZBTB10 ZNF341 KLF7 SIN3A ZNF513 KLF9 SP2 ZNF843 DLX5 ASNS OR7E38P HSALNG0059742 DLX6
GH07J097026 Enhancer 0.3 ENCODE 250.7 -1.5 -1514 0.2 EZH2 DLX5 HSALNG0059743-001 HSALNG0059743-002 SDHAF3
GH07J096075 Promoter/Enhancer 1.4 VISTA ENCODE CraniofacialAtlas 11 +949.1 949061 1.2 ZNF654 ZNF580 REST TRIM22 CTCF ZNF217 RAD21 SMC3 ZNF205 ZNF2 DLX5 HSALNG0059707 HSALNG0059706 SLC25A13 DYNC1I1
GH07J097004 Promoter/Enhancer 2.6 VISTA UCNEbase EPDnew Ensembl ENCODE CraniofacialAtlas 4.8 +17.0 17014 7.3 ZNF600 ZNF580 ATF2 ZBTB10 MXD4 CHD2 ZNF341 ZFP64 KMT2B THAP11 DLX6 DLX6-AS1 DLX5 lnc-DLX6-1 ENSG00000274709
GH07J097016 Promoter/Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas 5.2 +7.9 7917 1.5 ZNF600 ZIC2 ZBTB10 MXD4 KLF11 ZNF341 KMT2B ZNF610 SMAD4 SP2 HSALNG0059742 DLX6 DLX5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLX5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLX5

Top Transcription factor binding sites by QIAGEN in the DLX5 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DLX5 Gene

Latest Assembly
chr7:97,020,396-97,024,950
(GRCh38/hg38)
Size:
4,555 bases
Orientation:
Minus strand

Previous Assembly
chr7:96,649,708-96,654,143
(GRCh37/hg19 by Entrez Gene)
Size:
4,436 bases
Orientation:
Minus strand

chr7:96,649,704-96,654,409
(GRCh37/hg19 by Ensembl)
Size:
4,706 bases
Orientation:
Minus strand

Genomic View for DLX5 Gene

Genes around DLX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLX5 Gene

Proteins for DLX5 Gene

  • Protein details for DLX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56178-DLX5_HUMAN
    Recommended name:
    Homeobox protein DLX-5
    Protein Accession:
    P56178
    Secondary Accessions:
    • B7Z4P3
    • Q9UPL1

    Protein attributes for DLX5 Gene

    Size:
    289 amino acids
    Molecular mass:
    31540 Da
    Quaternary structure:
    • Interacts with XRCC6 (Ku70).

    Three dimensional structures from OCA and Proteopedia for DLX5 Gene

    Alternative splice isoforms for DLX5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLX5 Gene

Post-translational modifications for DLX5 Gene

  • Phosphorylated. Phosphorylation of Ser-34 and Ser-217 by MAPK14 enhances its transcriptional activity. Phosphorylation by CaMK2 increases its protein stability (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLX5 Gene

No data available for DME Specific Peptides for DLX5 Gene

Domains & Families for DLX5 Gene

Gene Families for DLX5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for DLX5 Gene

InterPro:
Blocks:
  • Lambda and other repressor helix-turn-helix signature

Suggested Antigen Peptide Sequences for DLX5 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein DLX-5 (DLX5_HUMAN)
  • Distal-less homeobox 5 (Q53Y73_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56178

UniProtKB/Swiss-Prot:

DLX5_HUMAN :
  • Belongs to the distal-less homeobox family.
Family:
  • Belongs to the distal-less homeobox family.
genes like me logo Genes that share domains with DLX5: view

Function for DLX5 Gene

Molecular function for DLX5 Gene

UniProtKB/Swiss-Prot 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:
Drosophila distal less homolog Dlx5,homeo domain encoding gene,expressed in brain and skeleton

Phenotypes From GWAS Catalog for DLX5 Gene

Gene Ontology (GO) - Molecular Function for DLX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 19497851
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific ISS --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with DLX5: view
genes like me logo Genes that share phenotypes with DLX5: view

Human Phenotype Ontology for DLX5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLX5 Gene

MGI Knock Outs for DLX5:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLX5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DLX5 Gene

Localization for DLX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLX5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLX5 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DLX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISS --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DLX5: view

Pathways & Interactions for DLX5 Gene

genes like me logo Genes that share pathways with DLX5: view

Pathways by source for DLX5 Gene

Interacting Proteins for DLX5 Gene

SIGNOR curated interactions for DLX5 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DLX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 7907794
GO:0001503 ossification IEA --
GO:0001649 osteoblast differentiation ISS --
GO:0001958 endochondral ossification ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with DLX5: view

Drugs & Compounds for DLX5 Gene

(1) Drugs for DLX5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for DLX5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DLX5: view

Transcripts for DLX5 Gene

mRNA/cDNA for DLX5 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLX5

Alternative Splicing Database (ASD) splice patterns (SP) for DLX5 Gene

No ASD Table

Relevant External Links for DLX5 Gene

GeneLoc Exon Structure for
DLX5

Expression for DLX5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DLX5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLX5 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x9.4) and Skin - Not Sun Exposed (Suprapubic) (x8.4).

Protein differential expression in normal tissues from HIPED for DLX5 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DLX5 Gene



Protein tissue co-expression partners for DLX5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLX5

SOURCE GeneReport for Unigene cluster for DLX5 Gene:

Hs.99348

Evidence on tissue expression from TISSUES for DLX5 Gene

  • Nervous system(4.6)
  • Bone(4.5)
  • Lung(4.3)
  • Skin(2.5)
  • Muscle(2.1)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DLX5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • outer ear
  • skull
Abdomen:
  • kidney
Pelvis:
  • testicle
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with DLX5: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for DLX5 Gene

Orthologs for DLX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLX5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DLX5 29 30
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DLX5 29 30
  • 94.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DLX5 29 30
  • 94.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dlx5 29 16 30
  • 92.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dlx5 29
  • 91.81 (n)
Oppossum
(Monodelphis domestica)
Mammalia DLX5 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DLX5 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DLX5 29 30
  • 83.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DLX5 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dlx5 29
  • 74.38 (n)
Str.11087 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.18401 29
Zebrafish
(Danio rerio)
Actinopterygii dlx5a 29 30
  • 69.16 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.783 29
Fruit Fly
(Drosophila melanogaster)
Insecta Dll 30
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ceh-43 30
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 21 (a)
ManyToMany
CSA.6494 30
  • 13 (a)
ManyToMany
Species where no ortholog for DLX5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DLX5 Gene

ENSEMBL:
Gene Tree for DLX5 (if available)
TreeFam:
Gene Tree for DLX5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLX5: view image
Alliance of Genome Resources:
Additional Orthologs for DLX5

Paralogs for DLX5 Gene

Paralogs for DLX5 Gene

(6) SIMAP similar genes for DLX5 Gene using alignment to 3 proteins:

  • DLX5_HUMAN
  • B7Z4P3_HUMAN
  • Q53Y73_HUMAN
genes like me logo Genes that share paralogs with DLX5: view

Variants for DLX5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLX5 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
994869 Uncertain Significance: not provided 97,022,212(-) G/A
NM_005221.6(DLX5):c.513C>T (p.Ala171=)
SYNONYMOUS
rs1221605189 Likely Benign: not provided 97,024,348(-) A/G
NM_005221.6(DLX5):c.276T>C (p.Tyr92=)
SYNONYMOUS
rs142492086 Likely Benign: not provided 97,020,914(-) C/T
NM_005221.6(DLX5):c.692G>A (p.Arg231His)
MISSENSE
rs149635296 Likely Benign: not provided 97,024,385(-) A/G
NM_005221.6(DLX5):c.239T>C (p.Val80Ala)
MISSENSE
rs150866607 Likely Benign: not provided 97,024,366(-) G/A
NM_005221.6(DLX5):c.258C>T (p.Ser86=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DLX5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DLX5 Gene

Variant ID Type Subtype PubMed ID
nsv824221 CNV gain 20364138

Variation tolerance for DLX5 Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLX5 Gene

Human Gene Mutation Database (HGMD)
DLX5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLX5
Leiden Open Variation Database (LOVD)
DLX5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLX5 Gene

Disorders for DLX5 Gene

MalaCards: The human disease database

(28) MalaCards diseases for DLX5 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DLX5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DLX5_HUMAN
  • Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (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. {ECO:0000269 PubMed:22121204}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DLX5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DLX5: view

No data available for Genatlas for DLX5 Gene

Publications for DLX5 Gene

  1. Cloning and characterization of two members of the vertebrate Dlx gene family. (PMID: 7907794) Simeone A … Huebner K (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22
  2. Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. (PMID: 22121204) Shamseldin HE … Alkuraya FS (Journal of medical genetics 2012) 3 4 72
  3. DLX5 (distal-less homeobox 5) promotes tumor cell proliferation by transcriptionally regulating MYC. (PMID: 19497851) Xu J … Testa JR (The Journal of biological chemistry 2009) 3 4 22
  4. Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. (PMID: 25196357) Sowińska-Seidler A … Jamsheer A (Birth defects research. Part A, Clinical and molecular teratology 2014) 3 72
  5. Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. (PMID: 24496061) Wang X … Liu Q (European journal of human genetics : EJHG 2014) 3 72

Products for DLX5 Gene

  • Boster Bio Antibodies for DLX5
  • Boster Bio ELISA Kits for DLX5

Sources for DLX5 Gene