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Aliases for DMBX1 Gene

Aliases for DMBX1 Gene

  • Diencephalon/Mesencephalon Homeobox 1 2 3 5
  • Paired-Like Homeobox Protein DMBX1 3 4
  • Orthodenticle Homolog 3 3 4
  • OTX3 3 4
  • PAXB 3 4
  • MBX 3 4
  • Diencephalon/Mesencephalon Homeobox Protein 1 3
  • Orthodenticle Homolog 3 (Drosophila) 2
  • Homeoprotein MBX 3

External Ids for DMBX1 Gene

Previous HGNC Symbols for DMBX1 Gene

  • OTX3

Previous GeneCards Identifiers for DMBX1 Gene

  • GC01P046343
  • GC01P046684
  • GC01P046974
  • GC01P045088

Summaries for DMBX1 Gene

Entrez Gene Summary for DMBX1 Gene

  • This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DMBX1 Gene

DMBX1 (Diencephalon/Mesencephalon Homeobox 1) is a Protein Coding gene. Diseases associated with DMBX1 include Childhood Type Dermatomyositis. Among its related pathways are Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is OTX2.

UniProtKB/Swiss-Prot for DMBX1 Gene

  • Functions as a transcriptional repressor. May repress OTX2-mediated transactivation by forming a heterodimer with OTX2 on the P3C (5-TAATCCGATTA-3) sequence. Required for brain development (By similarity).

Additional gene information for DMBX1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMBX1 Gene

Genomics for DMBX1 Gene

GeneHancer (GH) Regulatory Elements for DMBX1 Gene

Promoters and enhancers for DMBX1 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
GH01J046489 Promoter/Enhancer 1.3 EPDnew ENCODE 650.7 0.0 -43 0.1 HDAC1 PKNOX1 ATF1 RB1 SIN3A ZNF335 FOS ATF7 CREM SP3 DMBX1 GPBP1L1 EFCAB14-AS1 LRRC41 NSUN4 RPL7AP16 MOB3C LINC01389 LINC01398
GH01J046506 Promoter 1 EPDnew 650.4 +17.1 17127 0.1 ZIC2 FOSL1 CTBP1 ZNF766 EGR1 ARID2 VEZF1 ZFP91 EGR2 L3MBTL2 DMBX1 GC01P046525
GH01J046490 Enhancer 0.8 FANTOM5 664.1 +0.3 319 0.2 HDAC1 PKNOX1 ATF1 ZNF792 SUZ12 SIN3A FEZF1 E2F1 POLR2A ZBTB48 DMBX1 GC01P046525
GH01J046491 Promoter 0.7 EPDnew 650.7 +0.7 671 0.1 POLR2A SUZ12 EZH2 DMBX1 GC01P046525
GH01J046519 Enhancer 1.5 FANTOM5 Ensembl ENCODE 18.3 +31.8 31770 3.6 HDGF HNRNPUL1 PKNOX1 SMAD1 FOXA2 ARNT SIN3A ZNF766 CBX5 ZNF213 EFCAB14-AS1 GPBP1L1 LRRC41 RPL7AP16 DMBX1 RPS15AP10 KNCN EFCAB14 MOB3C TEX38
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DMBX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DMBX1 gene promoter:

Genomic Locations for DMBX1 Gene

Genomic Locations for DMBX1 Gene
chr1:46,489,837-46,514,226
(GRCh38/hg38)
Size:
24,390 bases
Orientation:
Plus strand
chr1:46,972,668-46,979,898
(GRCh37/hg19)

Genomic View for DMBX1 Gene

Genes around DMBX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMBX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMBX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMBX1 Gene

Proteins for DMBX1 Gene

  • Protein details for DMBX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFW5-DMBX1_HUMAN
    Recommended name:
    Diencephalon/mesencephalon homeobox protein 1
    Protein Accession:
    Q8NFW5
    Secondary Accessions:
    • A6NNN2
    • Q8NFW6
    • Q8NHD9

    Protein attributes for DMBX1 Gene

    Size:
    382 amino acids
    Molecular mass:
    41198 Da
    Quaternary structure:
    • Homodimer or heterodimer. Forms heterodimers with OTX2 (By similarity).
    SequenceCaution:
    • Sequence=BAC00920.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DMBX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DMBX1 Gene

Post-translational modifications for DMBX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMBX1 Gene

No data available for DME Specific Peptides for DMBX1 Gene

Domains & Families for DMBX1 Gene

Gene Families for DMBX1 Gene

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

Protein Domains for DMBX1 Gene

Suggested Antigen Peptide Sequences for DMBX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFW5

UniProtKB/Swiss-Prot:

DMBX1_HUMAN :
  • Belongs to the paired homeobox family.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with DMBX1: view

Function for DMBX1 Gene

Molecular function for DMBX1 Gene

UniProtKB/Swiss-Prot Function:
Functions as a transcriptional repressor. May repress OTX2-mediated transactivation by forming a heterodimer with OTX2 on the P3C (5-TAATCCGATTA-3) sequence. Required for brain development (By similarity).

Phenotypes From GWAS Catalog for DMBX1 Gene

Gene Ontology (GO) - Molecular Function for DMBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding ISS --
GO:0003700 DNA binding transcription factor activity ISS --
genes like me logo Genes that share ontologies with DMBX1: view
genes like me logo Genes that share phenotypes with DMBX1: view

Animal Models for DMBX1 Gene

MGI Knock Outs for DMBX1:

Animal Model Products

CRISPR Products

miRNA for DMBX1 Gene

miRTarBase miRNAs that target DMBX1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMBX1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMBX1 Gene

Localization for DMBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMBX1 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 DMBX1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for DMBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with DMBX1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DMBX1 Gene

Pathways & Interactions for DMBX1 Gene

SuperPathways for DMBX1 Gene

SuperPathway Contained pathways
1 Neural Crest Differentiation
genes like me logo Genes that share pathways with DMBX1: view

Pathways by source for DMBX1 Gene

1 BioSystems pathway for DMBX1 Gene

Gene Ontology (GO) - Biological Process for DMBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007417 central nervous system development ISS --
genes like me logo Genes that share ontologies with DMBX1: view

No data available for SIGNOR curated interactions for DMBX1 Gene

Drugs & Compounds for DMBX1 Gene

No Compound Related Data Available

Transcripts for DMBX1 Gene

mRNA/cDNA for DMBX1 Gene

(5) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(4) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DMBX1 Gene

Diencephalon/mesencephalon homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DMBX1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMBX1 Gene

No ASD Table

Relevant External Links for DMBX1 Gene

GeneLoc Exon Structure for
DMBX1
ECgene alternative splicing isoforms for
DMBX1

Expression for DMBX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DMBX1 Gene

mRNA differential expression in normal tissues according to GTEx for DMBX1 Gene

This gene is overexpressed in Testis (x17.4), Pituitary (x8.2), Brain - Substantia nigra (x6.0), and Bladder (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of DMBX1 Gene:

DMBX1

SOURCE GeneReport for Unigene cluster for DMBX1 Gene:

Hs.375623

Evidence on tissue expression from TISSUES for DMBX1 Gene

  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with DMBX1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DMBX1 Gene

Orthologs for DMBX1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DMBX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMBX1 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMBX1 34
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dmbx1 16 34 33
  • 87.54 (n)
rat
(Rattus norvegicus)
Mammalia Dmbx1 33
  • 86.76 (n)
dog
(Canis familiaris)
Mammalia DMBX1 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMBX1 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMBX1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DMBX1 34 33
  • 75.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMBX1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493907 33
  • 70.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32187 33
zebrafish
(Danio rerio)
Actinopterygii dmbx1a 34
  • 70 (a)
OneToMany
dmbx1b 34 33
  • 68.44 (n)
OneToMany
dmbx1 33
worm
(Caenorhabditis elegans)
Secernentea ceh-36 34
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO2 36
Species where no ortholog for DMBX1 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 DMBX1 Gene

ENSEMBL:
Gene Tree for DMBX1 (if available)
TreeFam:
Gene Tree for DMBX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DMBX1: view image

Paralogs for DMBX1 Gene

Paralogs for DMBX1 Gene

(2) SIMAP similar genes for DMBX1 Gene using alignment to 1 proteins:

  • DMBX1_HUMAN
genes like me logo Genes that share paralogs with DMBX1: view

Variants for DMBX1 Gene

Sequence variations from dbSNP and Humsavar for DMBX1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs730882203 likely-pathogenic, Global developmental delay, Hearing impairment, Hypermetropia, Muscular hypotonia, Seizures, Strabismus 46,510,953(+) C/T coding_sequence_variant, missense_variant
rs1000010390 -- 46,505,856(+) CC/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000084457 -- 46,512,073(+) T/G coding_sequence_variant, missense_variant
rs1000095609 -- 46,488,364(+) G/C upstream_transcript_variant
rs1000130562 -- 46,491,183(+) C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DMBX1 Gene

Variant ID Type Subtype PubMed ID
esv2761743 CNV gain 21179565
nsv1009193 CNV gain 25217958

Variation tolerance for DMBX1 Gene

Residual Variation Intolerance Score: 77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 60.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMBX1 Gene

Human Gene Mutation Database (HGMD)
DMBX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMBX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMBX1 Gene

Disorders for DMBX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DMBX1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
childhood type dermatomyositis
  • childhood dermatomyositis
- elite association - COSMIC cancer census association via MalaCards
Search DMBX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DMBX1

genes like me logo Genes that share disorders with DMBX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DMBX1 Gene

Publications for DMBX1 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  2. The homeobox gene mbx is involved in eye and tectum development. (PMID: 12142024) Kawahara A … Dawid IB (Developmental biology 2002) 3 4 58
  3. Identification, tissue expression, and functional characterization of Otx3, a novel member of the Otx family. (PMID: 12055180) Zhang Y … Seino S (The Journal of biological chemistry 2002) 3 4 58
  4. Epigenome-wide association data implicates DNA methylation-mediated genetic risk in psoriasis. (PMID: 27980695) Zhou F … Zhang X (Clinical epigenetics 2016) 3 58
  5. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin SY … Soranzo N (Nature genetics 2014) 3 58

Products for DMBX1 Gene

Sources for DMBX1 Gene

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