Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different memb... See more...

Aliases for DLX4 Gene

Aliases for DLX4 Gene

  • Distal-Less Homeobox 4 2 3 5
  • DLX8 2 3 4
  • BP1 2 3 4
  • Homeobox Protein DLX-4 3 4
  • Homeobox Protein DLX-7 3 4
  • Homeobox Protein DLX-8 3 4
  • Beta Protein 1 3 4
  • DLX7 3 4
  • DLX9 3 4
  • Distal-Less Homeo Box 7 3
  • Distal-Less Homeo Box 9 3
  • OFC15 3
  • DLX4 5

External Ids for DLX4 Gene

Previous HGNC Symbols for DLX4 Gene

  • DLX7
  • DLX9

Previous GeneCards Identifiers for DLX4 Gene

  • GC17P047757
  • GC17P050526
  • GC17P048388
  • GC17P048521
  • GC17P045401
  • GC17P048046
  • GC17P043411

Summaries for DLX4 Gene

Entrez Gene Summary for DLX4 Gene

  • Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]

GeneCards Summary for DLX4 Gene

DLX4 (Distal-Less Homeobox 4) is a Protein Coding gene. Diseases associated with DLX4 include Orofacial Cleft 15 and Cleft Lip/Palate. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is DLX6.

UniProtKB/Swiss-Prot Summary for DLX4 Gene

  • May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis.

Gene Wiki entry for DLX4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLX4 Gene

Genomics for DLX4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DLX4 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
GH17J049968 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 255.5 +0.0 9 1.6 EZH2 JUND ATF2 CEBPA ZIC2 ZBTB10 NONO CEBPB ELK1 ZNF639 DLX4 ENSG00000262837 LUC7L3 ENSG00000250751 lnc-ITGA3-3 DLX3
GH17J049971 Promoter/Enhancer 0.9 EPDnew Ensembl 255.3 +3.3 3322 1.4 HES1 BHLHE40 BCL6 CBX2 EGR1 ZBTB33 CREM NR2F6 CREB1 SP5 DLX4 lnc-ITGA3-3 EME1 HSALNG0117237 DLX3
GH17J049885 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE 12.9 -80.8 -80839 4.8 CEBPA ZIC2 ZNF217 MXD4 HOMEZ ZBTB7B THAP11 HES1 MBD2 ELF1 ENSG00000248954 HSALNG0117221-001 ENSG00000204584 DLX3 TAC4 DLX4 ENSG00000248172 RNU6-1313P SGCA ENSG00000253730
GH17J049939 Enhancer 0.8 Ensembl ENCODE 12.4 -29.1 -29069 1.8 CEBPA ZIC2 SAP130 RUNX1 SOX5 SPI1 NRF1 MIER2 TFAP4 ELF3 ENSG00000249176 LOC124865 RNU6-1313P DLX4 DLX3 ENSG00000248172 HSALNG0117228 TAC4
GH17J049890 Enhancer 0.7 Ensembl ENCODE 11.4 -77.8 -77755 1.3 MAFF ZNF316 MAFK MAFG KLF1 KLF8 EMSY DLX3 ENSG00000248172 RNU6-1313P DLX4 ENSG00000204584 ENSG00000248954 HSALNG0117221-001 HSALNG0117222 TAC4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLX4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLX4

Top Transcription factor binding sites by QIAGEN in the DLX4 gene promoter:
  • HOXA5
  • HOXA9
  • HOXA9B
  • Lmo2
  • Meis-1
  • Spz1

Genomic Locations for DLX4 Gene

Latest Assembly
chr17:49,968,970-49,974,959
(GRCh38/hg38)
Size:
5,990 bases
Orientation:
Plus strand

Previous Assembly
chr17:48,046,554-48,052,323
(GRCh37/hg19 by Entrez Gene)
Size:
5,770 bases
Orientation:
Plus strand

chr17:48,046,334-48,052,321
(GRCh37/hg19 by Ensembl)
Size:
5,988 bases
Orientation:
Plus strand

Genomic View for DLX4 Gene

Genes around DLX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLX4 Gene

Proteins for DLX4 Gene

  • Protein details for DLX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92988-DLX4_HUMAN
    Recommended name:
    Homeobox protein DLX-4
    Protein Accession:
    Q92988
    Secondary Accessions:
    • D3DTX2
    • D3DTX3
    • O60480
    • Q13265
    • Q6PJK0
    • Q9HBE0

    Protein attributes for DLX4 Gene

    Size:
    240 amino acids
    Molecular mass:
    26263 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DLX4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLX4 Gene

Post-translational modifications for DLX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLX4 Gene

No data available for DME Specific Peptides for DLX4 Gene

Domains & Families for DLX4 Gene

Gene Families for DLX4 Gene

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

Protein Domains for DLX4 Gene

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

Suggested Antigen Peptide Sequences for DLX4 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein DLX-8 (DLX4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92988

UniProtKB/Swiss-Prot:

DLX4_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 DLX4: view

Function for DLX4 Gene

Molecular function for DLX4 Gene

UniProtKB/Swiss-Prot Function:
May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis.
GENATLAS Biochemistry:
Drosophila distal less homolog Dlx4,homeo domain encoding gene,expressed in extra-embryonic tissues such as placenta,clustering with DLX3 (? and seven)

Phenotypes From GWAS Catalog for DLX4 Gene

Gene Ontology (GO) - Molecular Function for DLX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 11909945
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 11909945
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS,NAS 11069021
genes like me logo Genes that share ontologies with DLX4: view
genes like me logo Genes that share phenotypes with DLX4: view

Human Phenotype Ontology for DLX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLX4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DLX4 Gene

Localization for DLX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLX4 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 DLX4 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DLX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus NAS 11069021
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with DLX4: view

Pathways & Interactions for DLX4 Gene

PathCards logo

SuperPathways for DLX4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DLX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 11909945
GO:0006355 regulation of transcription, DNA-templated NAS 11069021
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0009790 embryo development IBA 21873635
genes like me logo Genes that share ontologies with DLX4: view

No data available for Pathways by source and SIGNOR curated interactions for DLX4 Gene

Drugs & Compounds for DLX4 Gene

No Compound Related Data Available

Transcripts for DLX4 Gene

mRNA/cDNA for DLX4 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 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 DLX4

Alternative Splicing Database (ASD) splice patterns (SP) for DLX4 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1: - - - -
SP2: - - - -
SP3:
SP4:
SP5:

Relevant External Links for DLX4 Gene

GeneLoc Exon Structure for
DLX4

Expression for DLX4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DLX4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLX4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x10.3) and Skin - Sun Exposed (Lower leg) (x7.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLX4

SOURCE GeneReport for Unigene cluster for DLX4 Gene:

Hs.591167

mRNA Expression by UniProt/SwissProt for DLX4 Gene:

Q92988-DLX4_HUMAN
Tissue specificity: Expressed in leukemia cells and placenta. Also expressed in kidney and fetal liver.

Evidence on tissue expression from TISSUES for DLX4 Gene

  • Skin(2.1)
genes like me logo Genes that share expression patterns with DLX4: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLX4 Gene

Orthologs for DLX4 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLX4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DLX4 29 30
  • 99.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DLX4 29 30
  • 88.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DLX4 30
  • 85 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dlx4 29
  • 83.12 (n)
Mouse
(Mus musculus)
Mammalia Dlx4 29 16 30
  • 80.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DLX4 30
  • 58 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DLX4 30
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DLX4 30
  • 70 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DLX4 30
  • 55 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii dlx4a 30
  • 46 (a)
OneToMany
dlx4b 30
  • 43 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Dll 30
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ceh-43 30
  • 28 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 21 (a)
ManyToMany
Species where no ortholog for DLX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for DLX4 Gene

ENSEMBL:
Gene Tree for DLX4 (if available)
TreeFam:
Gene Tree for DLX4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLX4: view image
Alliance of Genome Resources:
Additional Orthologs for DLX4

Paralogs for DLX4 Gene

Paralogs for DLX4 Gene

(3) SIMAP similar genes for DLX4 Gene using alignment to 2 proteins:

  • DLX4_HUMAN
  • S4R3M4_HUMAN
genes like me logo Genes that share paralogs with DLX4: view

Variants for DLX4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLX4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs138634383 Likely Benign: not provided 49,969,750(+) A/G
NM_138281.3(DLX4):c.282A>G (p.Ala94=)
SYNONYMOUS
rs139118373 Benign: not provided 49,973,260(+) C/G
NM_138281.3(DLX4):c.471C>G (p.Thr157=)
SYNONYMOUS
rs151318731 Likely Benign: not provided 49,973,193(+) G/C
NM_138281.3(DLX4):c.404G>C (p.Arg135Pro)
MISSENSE
rs1567907771 Uncertain Significance: not provided 49,973,191(+) GC/TA
NM_138281.3(DLX4):c.402_403delinsTA (p.Gln134_Arg135delinsHisSer)
MISSENSE
rs1567908151 Uncertain Significance: not provided 49,973,831(+) TCT/ACA
NM_138281.3(DLX4):c.611_613delinsACA (p.Leu204_Trp205delinsHisArg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DLX4 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 DLX4 Gene

Variant ID Type Subtype PubMed ID
esv24299 CNV gain 19812545
nsv833474 CNV loss 17160897

Variation tolerance for DLX4 Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLX4 Gene

Human Gene Mutation Database (HGMD)
DLX4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLX4
Leiden Open Variation Database (LOVD)
DLX4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLX4 Gene

Disorders for DLX4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DLX4 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
orofacial cleft 15
  • ofc15
cleft lip/palate
  • alveolar cleft lip and palate
x-linked charcot-marie-tooth disease
  • cmtx
trichodentoosseous syndrome
  • tdo
orofacial cleft
  • cleft, orofacial
- elite association - COSMIC cancer census association via MalaCards
Search DLX4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DLX4_HUMAN
  • Non-syndromic orofacial cleft 15 (OFC15) [MIM:616788]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC15 inheritance is autosomal dominant. {ECO:0000269 PubMed:25954033}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DLX4

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 DLX4: view

No data available for Genatlas for DLX4 Gene

Publications for DLX4 Gene

  1. DLX4 is associated with orofacial clefting and abnormal jaw development. (PMID: 25954033) Wu D … Slavotinek AM (Human molecular genetics 2015) 3 4 72
  2. BP1, a homeodomain-containing isoform of DLX4, represses the beta-globin gene. (PMID: 11909945) Chase MB … Berg PE (Molecular and cellular biology 2002) 3 4 22
  3. Isolation and identification of homeobox genes from the human placenta including a novel member of the Distal-less family, DLX4. (PMID: 9073066) Quinn LM … Kalionis B (Gene 1997) 3 4 22
  4. Genomic analysis of a new mammalian distal-less gene: Dlx7. (PMID: 8975708) Nakamura S … Ruddle FH (Genomics 1996) 3 4 22
  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 40

Products for DLX4 Gene

Sources for DLX4 Gene