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Aliases for DLX5 Gene

Aliases for DLX5 Gene

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

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 and Split Hand-Foot Malformation 1. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and Neural Crest Differentiation. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is DLX3.

UniProtKB/Swiss-Prot 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

Additional gene information for DLX5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLX5 Gene

Genomics for DLX5 Gene

Regulatory Elements for DLX5 Gene

Enhancers for DLX5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H096075 1.6 VISTA Ensembl ENCODE 11.8 +949.1 949078 1 CTCF MXI1 ZNF777 ZNF76 ZNF2 RAD21 CC2D1A POLR2A PATZ1 SMC3 DLX5 MIR591 GC07M096068 ENSG00000279067
GH07H097027 1.4 FANTOM5 Ensembl ENCODE 6.6 -2.5 -2539 0 ELF3 RB1 ARID4B ZNF2 RAD21 ZNF366 ZSCAN5C ZNF143 CREM THAP11 DLX5 OR7E38P DLX6 PIR43290
GH07H097016 1.3 FANTOM5 ENCODE 5.2 +8.1 8064 1 PKNOX1 GLI4 ZNF2 GLIS2 SP3 SP5 MXD4 REST KAT8 ZNF610 DLX6 DLX5 ENSG00000274709
GH07H096800 0.8 ENCODE 4.9 +224.1 224064 0 FOXA2 RAD21 RCOR1 ATF7 HMG20B CEBPB TGIF2 ZNF217 NFIL3 ATF4 DLX5 LOC105375414 MARK2P10
GH07H097012 0.5 FANTOM5 4.8 +12.2 12168 0 POLR2A ZSCAN29 EZH2 DLX5 DLX6 DLX6-AS1 GC07M097006
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLX5 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLX5 Gene

Chromosome:
7
Start:
97,020,390 bp from pter
End:
97,025,097 bp from pter
Size:
4,708 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

Suggested Antigen Peptide Sequences for DLX5 Gene

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

GENATLAS Biochemistry:
Drosophila distal less homolog Dlx5,homeo domain encoding gene,expressed in brain and skeleton
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.

Phenotypes From GWAS Catalog for DLX5 Gene

Gene Ontology (GO) - Molecular Function for DLX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding ISS --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding ISS --
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
GO:0044212 transcription regulatory region DNA binding IDA 19497851
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DLX5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 2

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:0000790 nuclear 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

SIGNOR curated interactions for DLX5 Gene

Activates:
Is activated 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:0006351 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

Unigene Clusters for DLX5 Gene

Distal-less homeobox 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DLX5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for DLX5 Gene

GeneLoc Exon Structure for
DLX5
ECgene alternative splicing isoforms for
DLX5

Expression for DLX5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for DLX5 Gene



Protein tissue co-expression partners for DLX5 Gene

NURSA nuclear receptor signaling pathways regulating expression of DLX5 Gene:

DLX5

SOURCE GeneReport for Unigene cluster for DLX5 Gene:

Hs.99348

Evidence on tissue expression from TISSUES for DLX5 Gene

  • Bone(4.5)
  • Nervous system(4.5)
  • Lung(4.2)

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
Organs:
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

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 33 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia DLX5 33 34
  • 94.93 (n)
cow
(Bos Taurus)
Mammalia DLX5 33 34
  • 94.81 (n)
mouse
(Mus musculus)
Mammalia Dlx5 33 16 34
  • 92.96 (n)
rat
(Rattus norvegicus)
Mammalia Dlx5 33
  • 91.81 (n)
oppossum
(Monodelphis domestica)
Mammalia DLX5 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLX5 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLX5 33 34
  • 83.92 (n)
lizard
(Anolis carolinensis)
Reptilia DLX5 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlx5 33
  • 74.38 (n)
Str.11087 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18401 33
zebrafish
(Danio rerio)
Actinopterygii dlx5a 33 34
  • 69.16 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.783 33
fruit fly
(Drosophila melanogaster)
Insecta Dll 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-43 34
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
ManyToMany
CSA.6494 34
  • 13 (a)
ManyToMany
Species where no ortholog for DLX5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for DLX5 Gene

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

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

Variants for DLX5 Gene

Sequence variations from dbSNP and Humsavar for DLX5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs387906737 Pathogenic, Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D) [MIM:220600] 97,022,192(-) GACAC(A/C)AACAC reference, missense
rs398122527 Pathogenic 97,021,048(-) TTTCA(G/T)AACAA reference, missense
rs587777842 Pathogenic 97,024,509(+) AGACT(A/C)GGGCA upstream-variant-2KB, reference, stop-gained
rs1000284684 -- 97,019,913(+) TGTAA(G/T)AGGTG downstream-variant-500B
rs1000750720 -- 97,025,082(+) CTTAG(-/TCTA)TCTGT upstream-variant-2KB

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)

Relevant External Links for DLX5 Gene

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

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

Disorders for DLX5 Gene

MalaCards: The human disease database

(16) MalaCards diseases for DLX5 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
split-hand/foot malformation 1 with sensorineural hearing loss
  • split hand-foot malformation 1 with sensorineural hearing loss
split hand-foot malformation 1
  • shfd1
split hand-split foot malformation
  • lobster-claw deformity
split hand
  • ectrodactyly of hand
split hand-foot malformation
  • lobster-claw deformity
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for DLX5

Genetic Association Database (GAD)
DLX5
Human Genome Epidemiology (HuGE) Navigator
DLX5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLX5
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 60
  2. 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 60
  3. 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 60
  4. Expression analysis and mutation detection of DLX5 and DLX6 in autism. (PMID: 19195802) Nakashima N … Momoi MY (Brain & development 2010) 3 22 60
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 45 60

Products for DLX5 Gene

Sources for DLX5 Gene

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