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Aliases for DMBX1 Gene

Aliases for DMBX1 Gene

  • Diencephalon/Mesencephalon Homeobox 1 2 3
  • 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. Among its related pathways are Neural Crest Differentiation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PITX3.

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).

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

Genomics for DMBX1 Gene

Regulatory Elements for DMBX1 Gene

Genomic Location for DMBX1 Gene

46,489,870 bp from pter
46,514,226 bp from pter
24,357 bases
Plus strand

Genomic View for DMBX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Recommended name:
    Diencephalon/mesencephalon homeobox protein 1
    Protein Accession:
    Secondary Accessions:
    • A6NNN2
    • Q8NFW6
    • Q8NHD9

    Protein attributes for DMBX1 Gene

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

    Alternative splice isoforms for DMBX1 Gene


neXtProt entry for DMBX1 Gene

Proteomics data for DMBX1 Gene at MOPED

Post-translational modifications for DMBX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMBX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DMBX1 Gene

Domains for DMBX1 Gene

Gene Families for DMBX1 Gene

  • PRD :Homeoboxes / PRD class

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
  • Contains 1 homeobox DNA-binding domain.
  • 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).

Gene Ontology (GO) - Molecular Function for DMBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding ISS --
GO:0003700 sequence-specific DNA binding transcription factor activity ISS --
GO:0042803 protein homodimerization activity IEA --
GO:0043565 sequence-specific DNA binding ISS --
GO:0046982 protein heterodimerization activity IEA --
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

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DMBX1 Gene

Localization for DMBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMBX1 Gene

Subcellular locations from

Jensen Localization Image for DMBX1 Gene COMPARTMENTS Subcellular localization image for DMBX1 gene
Compartment Confidence
nucleus 3

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

Pathways for DMBX1 Gene

SuperPathways for DMBX1 Gene

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

Pathways by source for DMBX1 Gene

1 BioSystems pathway for DMBX1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for DMBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007417 central nervous system development ISS --
GO:0007420 brain development ISS --
GO:0008343 adult feeding behavior IEA --
genes like me logo Genes that share ontologies with DMBX1: view

Transcripts for DMBX1 Gene

mRNA/cDNA for DMBX1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DMBX1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DMBX1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for DMBX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DMBX1 Gene

mRNA expression in normal human tissues for DMBX1 Gene

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

This gene is overexpressed in Testis (17.4), Pituitary (8.2), Brain - Substantia nigra (6.0), and Bladder (4.5).

SOURCE GeneReport for Unigene cluster for DMBX1 Gene Hs.375623

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

In Situ Assay Products

No data available for Protein expression and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia DMBX1 36
  • 98 (a)
(Bos Taurus)
Mammalia DMBX1 36
  • 94 (a)
(Canis familiaris)
Mammalia DMBX1 36
  • 84 (a)
(Mus musculus)
Mammalia Dmbx1 35
  • 87.54 (n)
  • 93.68 (a)
Dmbx1 16
Dmbx1 36
  • 94 (a)
(Monodelphis domestica)
Mammalia DMBX1 36
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia DMBX1 36
  • 78 (a)
(Rattus norvegicus)
Mammalia Dmbx1 35
  • 86.76 (n)
  • 92.27 (a)
(Gallus gallus)
Aves DMBX1 35
  • 75.63 (n)
  • 80.39 (a)
DMBX1 36
  • 79 (a)
(Anolis carolinensis)
Reptilia DMBX1 36
  • 81 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32187 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493907 35
  • 70.62 (n)
  • 78.24 (a)
(Danio rerio)
Actinopterygii dmbx1 35
dmbx1a 36
  • 70 (a)
dmbx1b 35
  • 68.44 (n)
  • 70.87 (a)
dmbx1b 36
  • 70 (a)
(Caenorhabditis elegans)
Secernentea ceh-36 36
  • 26 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO2 38
Species with no ortholog for DMBX1:
  • 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

Gene Tree for DMBX1 (if available)
Gene Tree for DMBX1 (if available)

Paralogs for DMBX1 Gene

Paralogs for DMBX1 Gene

Selected SIMAP similar genes for DMBX1 Gene using alignment to 1 proteins:

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 Sequence Context AA Info Type MAF
rs753209 -- 46,491,588(-) AGGAA(C/T)TTGCA intron-variant
rs942251 -- 46,490,605(-) ATGCC(C/G)GGAGC intron-variant
rs942252 -- 46,490,563(-) GAGGG(C/T)GTGGG intron-variant
rs942253 -- 46,489,685(-) CTCCC(A/G)ACCAA upstream-variant-2KB
rs942254 -- 46,488,591(-) TTGGG(A/G)CCAGA upstream-variant-2KB

Relevant External Links for DMBX1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DMBX1 Gene

Disorders for DMBX1 Gene

(1) University of Copenhagen DISEASES for DMBX1 Gene

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

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

Publications for DMBX1 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  2. Identification, tissue expression, and functional characterization of Otx3, a novel member of the Otx family. (PMID: 12055180) Zhang Y. … Seino S. (J. Biol. Chem. 2002) 3 4
  3. The homeobox gene mbx is involved in eye and tectum development. (PMID: 12142024) Kawahara A. … Dawid I.B. (Dev. Biol. 2002) 3 4
  4. Functional analysis of transcriptional repressor Otx3/Dmbx1. (PMID: 15890343) Kimura K. … Seino S. (FEBS Lett. 2005) 3
  5. Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract. (PMID: 17990594) Miyamoto T. … Sengoku K. (Turk. J. Pediatr. 2007) 3

Products for DMBX1 Gene

Sources for DMBX1 Gene

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