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Aliases for DLX4 Gene

Aliases for DLX4 Gene

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

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 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

Additional gene information for DLX4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLX4 Gene

Genomics for DLX4 Gene

GeneHancer (GH) Regulatory Elements for DLX4 Gene

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
GH17I049972 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 555.6 0.0 -18 1.6 HDGF CLOCK ATF1 FOXA2 ARNT ZFP64 SIN3A ZNF2 GLIS2 ELK1 DLX4 ENSG00000262837 GC17M049967 RNU6-1313P
GH17I049971 Promoter/Enhancer 1.1 EPDnew Ensembl 556.3 +3.4 3433 2.2 SP5 SUZ12 RNF2 BHLHE40 ZNF48 EGR1 VEZF1 CREB1 CTBP2 NR2F6 DLX4 DLX3
GH17I049885 Enhancer 1.2 FANTOM5 ENCODE 12.9 -80.8 -80839 4.8 PKNOX1 CLOCK FOXA2 MLX ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B ZNF48 ENSG00000248954 TAC4 FLJ45513 ENSG00000262837 DLX3 DLX4 ENSG00000248172 RNU6-1313P UBE2Z COL1A1
GH17I049939 Enhancer 0.9 Ensembl ENCODE 12.4 -29.5 -29512 0.8 ELF3 SOX13 TFAP4 SAP130 ARID4B CEBPG NR2F6 HOMEZ SOX5 SP5 LOC124865 DLX4 RNU6-1313P ENSG00000248172 DLX3 GC17M049967
GH17I049735 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 3 -225.8 -225753 15.6 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT SIN3A FEZF1 IRF4 YY1 ZNF766 LUC7L3 ENSG00000262837 FAM117A UBE2Z FLJ45513 NXPH3 ZNF652 KAT7 ENSG00000230532 SLC35B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DLX4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DLX4 gene promoter:

Genomic Locations for DLX4 Gene

Genomic Locations for DLX4 Gene
chr17:49,968,970-49,974,959
(GRCh38/hg38)
Size:
5,990 bases
Orientation:
Plus strand
chr17:48,046,334-48,052,323
(GRCh37/hg19)

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

No Post-translational modifications

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

Suggested Antigen Peptide Sequences for DLX4 Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
Drosophila distal less homolog Dlx4,homeo domain encoding gene,expressed in extra-embryonic tissues such as placenta,clustering with DLX3 (? and seven)
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.

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:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 11909945
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS,NAS 11069021
GO:0005515 protein binding IPI 17474147
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

Clone Products

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
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:0005634 nucleus NAS 11069021
genes like me logo Genes that share ontologies with DLX4: view

Pathways & Interactions 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:0007275 multicellular organism development IEA --
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

Unigene Clusters for DLX4 Gene

Distal-less homeobox 4:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
DLX4

Expression for DLX4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of DLX4 Gene:

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.
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 , Evidence on tissue expression from TISSUES 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 33 34
  • 99.31 (n)
cow
(Bos Taurus)
Mammalia DLX4 33 34
  • 88.18 (n)
dog
(Canis familiaris)
Mammalia DLX4 34
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dlx4 33
  • 83.12 (n)
mouse
(Mus musculus)
Mammalia Dlx4 33 16 34
  • 80.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DLX4 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DLX4 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLX4 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLX4 34
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dlx4a 34
  • 46 (a)
OneToMany
dlx4b 34
  • 43 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Dll 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-43 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
ManyToMany
Species where no ortholog for DLX4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for DLX4 Gene

Paralogs for DLX4 Gene

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

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

Variants for DLX4 Gene

Sequence variations from dbSNP and Humsavar for DLX4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs869025279 pathogenic, Orofacial cleft 15 49,973,761(+) GGGGGG/GGGGG coding_sequence_variant, frameshift
rs1000134392 -- 49,971,836(+) C/A/G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000188660 -- 49,972,016(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000361406 -- 49,969,736(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, stop_gained
rs1001080719 -- 49,970,006(+) C/A genic_upstream_transcript_variant, intron_variant

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

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

Disorders for DLX4 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DLX4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
orofacial cleft 15
  • ofc15
cleft lip/palate
  • alveolar cleft lip and palate
x-linked charcot-marie-tooth disease
  • cmtx
amelogenesis imperfecta, type iv
  • ai4
cleft lip
  • cheiloschisis
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for DLX4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DLX4: view

No data available for Genatlas for DLX4 Gene

Publications for DLX4 Gene

  1. 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 58
  2. 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 58
  3. Genomic analysis of a new mammalian distal-less gene: Dlx7. (PMID: 8975708) Nakamura S … Ruddle FH (Genomics 1996) 3 4 22 58
  4. DLX4 is associated with orofacial clefting and abnormal jaw development. (PMID: 25954033) Wu D … Slavotinek AM (Human molecular genetics 2015) 3 4 58
  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 44 58

Products for DLX4 Gene

Sources for DLX4 Gene

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