Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DMBX1 Gene

protein-coding   GIFtS: 48
GCID: GC01P046974

diencephalon/mesencephalon homeobox 1

(Previous name: orthodenticle homolog 3 (Drosophila) )
(Previous symbol: OTX3)
 Explore 9 diseases affiliated with
DMBX1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DMBX1    

Aliases
for DMBX1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Diencephalon/Mesencephalon Homeobox 11 2     MBX2 3
OTX31 2 3     Orthodenticle Homolog 3 (Drosophila)1
PAXB1 2 3     Diencephalon/Mesencephalon Homeobox Protein 12
Orthodenticle Homolog 32 3     Homeoprotein MBX2
Paired-Like Homeobox Protein DMBX12 3     

External Ids:    HGNC: 190261   Entrez Gene: 1273432   Ensembl: ENSG000001975877   OMIM: 6074105   UniProtKB: Q8NFW53   

Export aliases for DMBX1 gene to outside databases

Previous GC identifers: GC01P046343 GC01P046684 GC01P045088


Summaries
for DMBX1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DMBX1:
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)

UniProtKB/Swiss-Prot: DMBX1_HUMAN, Q8NFW5
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)




Genomic Views
for DMBX1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DMBX1 gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   E2F-2   IRF-2   E2F   E2F-1   IRF-7A   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DMBX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DMBX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMBX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p33   Ensembl cytogenetic band:  1p33   HGNC cytogenetic band: 1p34.1

DMBX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMBX1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P046974:  view genomic region     (about GC identifiers)

Start:
 46,972,668 bp from pter      End:
 46,979,898 bp from pter
Size:
 7,231 bases      Orientation:
 plus strand

Proteins
for DMBX1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DMBX1_HUMAN, Q8NFW5 (See protein sequence)
Recommended Name: Diencephalon/mesencephalon homeobox protein 1  
Size: 382 amino acids; 41198 Da
Subunit: Homodimer or heterodimer. Forms heterodimers with OTX2 (By similarity)
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=BAC00920.1; Type=Erroneous initiation;
Secondary accessions: A6NNN2 Q8NFW6 Q8NHD9
Alternative splicing: 2 isoforms:  Q8NFW5-1   Q8NFW5-2   

Explore the universe of human proteins at neXtProt for DMBX1: NX_Q8NFW5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NFW5

    • DMBX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_671725.1  NP_757379.1  

    ENSEMBL proteins: 
     ENSP00000353132   ENSP00000361024  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for DMBX1 
    GenScript Custom Purified and Recombinant Proteins Services for DMBX1
    Novus Biologicals DMBX1 Proteins
    Novus Biologicals DMBX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DMBX1

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005667transcription factor complex IEA--


    DMBX1 for ontologies           About GeneDecksing



    DMBX1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DMBX1 
    GenScript Custom Superior Antibodies Services for DMBX1
    Novus Biologicals DMBX1 Antibodies
    Search for Antibodies for DMBX1 at Abcam  
    Uscn Antibodies for DMBX1
    Search ThermoFisher Antibodies for DMBX1

    Assay Products for DMBX1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DMBX1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DMBX1

    Protein Domains /
    Families
    for DMBX1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DMBX1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR003654 OAR_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q8NFW5

    ProtoNet protein and cluster: Q8NFW5

    1 Blocks protein family: IPB003654 Paired-like homeodomain protein

    UniProtKB/Swiss-Prot: DMBX1_HUMAN, Q8NFW5
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Function
    for DMBX1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: DMBX1_HUMAN, Q8NFW5
    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)

    miRNA
    Products:            		Browse 3'-UTR reporter clones for miRNA target validation
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMBX1
    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate DMBX1 (see all 20):
    hsa-miR-3678-3p hsa-miR-1321 hsa-miR-765 hsa-miR-331-3p hsa-miR-488 hsa-miR-486-3p hsa-miR-342-3p hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmid: DMBX1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DMBX1 (see all 7)
    OriGene shRNA RFP: DMBX1
    OriGene siRNA: DMBX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMBX1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DMBX1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DMBX1 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DMBX1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): DMBX1 (NM_147192)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMBX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMBX1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for DMBX1
    Search LifeMap BioReagents cell lines for DMBX1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMBX1

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--
    GO:0042803protein homodimerization activity IEA--
    GO:0043565sequence-specific DNA binding ISS--
    GO:0046982protein heterodimerization activity IEA--


    DMBX1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Dmbx1tm1Bhr for DMBX1
         7 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Dmbx1):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  mortality/aging 
     nervous system  reproductive system 

    DMBX1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DMBX1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Neural Crest Differentiation
    		Neural Crest Differentiation1.00


    1 BioSystems Pathway for DMBX1 
        Neural Crest Differentiation


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DMBX1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for DMBX1 (Q8NFW53 ENSP000003531324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OTX2P322433, ENSP000003438194I2D: score=2 STRING: ENSP00000343819
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007417central nervous system development ISS--
    GO:0007420brain development ISS--
    GO:0008343adult feeding behavior IEA--


    DMBX1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DMBX1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DMBX1
    Search CenterWatch for drugs/clinical trials and news about DMBX1 

    Transcripts
    for DMBX1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DMBX1 gene (2 alternative transcripts): 
    NM_147192.2  NM_172225.1  

    Unigene Cluster for DMBX1:

    Diencephalon/mesencephalon homeobox 1
    Hs.375623
    Unigene Representative Sequence: NM_147192
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360032(uc001cpw.3) ENST00000371956(uc001cpx.3)

    miRNA
    Products:             		Browse 3'-UTR reporter clones for miRNA target validation
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DMBX1
    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate DMBX1 (see all 20):
    hsa-miR-3678-3p hsa-miR-1321 hsa-miR-765 hsa-miR-331-3p hsa-miR-488 hsa-miR-486-3p hsa-miR-342-3p hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmid: DMBX1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DMBX1 (see all 7)
    OriGene shRNA RFP: DMBX1
    OriGene siRNA: DMBX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMBX1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DMBX1 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DMBX1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): DMBX1 (NM_147192)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMBX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMBX1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DMBX1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DMBX1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMBX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMBX1

    Additional cDNA sequence: 

    AB037699.1 AF398527.1 AF398528.1 AY726596.1 

    1 DOTS entry:

    DT.100017320 

    5 AceView cDNA sequences:

    NM_147192 NM_172225 AF398528 AF398527 AB037699 

    GeneLoc Exon Structure


    Expression
    for DMBX1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DMBX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DMBX1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainMedulla OblongataBrain
    Neural TubeMetencephalonNeural Tube
    Spinal CordSpinal Dorsal ColumnsSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DMBX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DMBX1

    SOURCE GeneReport for Unigene cluster: Hs.375623
        SABiosciences Expression via Pathway-Focused PCR Array including DMBX1: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DMBX1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DMBX1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMBX1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMBX1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMBX1

    Orthologs
    for DMBX1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for DMBX1 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves DMBX11 diencephalon/mesencephalon homeobox 1 76.28(n)
    81.23(a)    		   395271  XM_001234035.1  XP_001234036.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DMBX16
    		 --
    		 78(a)
    		 1 ↔ 1
    		 4(112340873-112346786)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.321872 Xenopus laevis transcribed sequence with moderate similarity more 81.33(n)    BJ093923.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii dmbx12 diencephalon/mesencephalon-expressed brain homeobox more 81.19(n)   142987  AF398525.1 


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

    Paralogs
    for DMBX1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DMBX1 gene
    GSC2  OTX22  HESX12  PROP12  ARGFX2  GSC22  SEBOX2  MIXL12  
    OTX12  CRX2  
    2 SIMAP similar genes for DMBX1 using alignment to 1 protein entry:     DMBX1_HUMAN:
    HLX    POU6F1

    DMBX1 for paralogs           About GeneDecksing



    Genomic Variants
    for DMBX1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/191 NCBI SNPs in DMBX1 are shown (see all 191)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1880885691,2
    		--46970716(+) ACCACA/TATGAG 2 -- us2k10--------
    rs118034251,2
    		H--46971342(+) gggtgC/Tagcac 2 -- us2k10--------
    rs617830651,2
    		--46971369(+) TATACG/ATATGT 2 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1927316761,2
    		--46971431(+) AATAAA/TAAAAA 2 -- us2k10--------
    rs715726131,2
    		C--46971458(+) TACTT-/AAAAAA 2 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1154731811,2
    		F,--46971482(+) AATAAG/ACCTGC 2 -- us2k11Minor allele frequency- A:0.04WA 118
    rs751209151,2
    		F,--46971555(+) CTCTGA/GGCCTC 2 -- us2k11Minor allele frequency- G:0.15WA 118
    rs1117968731,2
    		C,--46971729(+) TCTTTTTTTTA/-
                TTTTT     		2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1116823771,2
    		--46971734(+) TTTTTA/TATTTT 2 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs613437551,2
    		C--46971746(+) TTTTTATTTTT/-
                GGAGA     		2 -- us2k11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for DMBX1 (46972668 - 46979898 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DMBX1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DMBX1
    DNA2.0 Custom Variant and Variant Library Synthesis for DMBX1

    Disorders / Diseases
    for DMBX1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DMBX1 for disorders           About GeneDecksing

    OMIM gene information: 607410    OMIM disorders: --

    9 diseases for DMBX1:    About MalaCards
    alcohol-related birth defect    alcohol-related neurodevelopmental disorder    partial fetal alcohol syndrome    birth defects
    fetal alcohol syndrome    congenital cataracts    alcoholism    cataract
    microphthalmia

    1 disease from the University of Copenhagen DISEASES database for DMBX1:
    Microphthalmia

    Export disorders for DMBX1 gene to outside databases

    Publications
    for DMBX1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DMBX1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DMBX1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. The homeobox gene mbx is involved in eye and tectum development. (PubMed id 12142024)1, 2 Kawahara A.... Dawid I.B. (2002)
    3. Identification, tissue expression, and functional characterization of Otx3, a novel member of the Otx family. (PubMed id 12055180)1, 2 Zhang Y.... Seino S. (2002)
    4. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    5. Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract. (PubMed id 17990594)1 Miyamoto T....Sengoku K. (2007)
    6. Functional analysis of transcriptional repressor Otx3 /Dmbx1. (PubMed id 15890343)1 Kimura K....Seino S. (2005)

    External Searches for DMBX1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DMBX1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 127343 HGNC: 19026 AceView: DMBX1 Ensembl:ENSG00000197587 euGenes: HUgn127343
    ECgene: DMBX1 H-InvDB: DMBX1

    Other Databases showing DMBX1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DMBX1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DMBX1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DMBX1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DMBX1 gene:
    Search GeneIP for patents involving DMBX1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for DMBX1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for DMBX1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DMBX1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DMBX1  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for DMBX1   Browse 3'-UTR reporter clones for miRNA target validation  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DMBX1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DMBX1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DMBX1   OriGene Custom Protein Services for DMBX1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DMBX1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DMBX1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMBX1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DMBX1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DMBX1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMBX1
     GenScript Custom Purified and Recombinant Proteins Services for DMBX1 GenScript cDNA clones with any tag delivered in your preferred vector for DMBX1
     GenScript Custom Assay Services for DMBX1 GenScript Custom Superior Antibodies Services for DMBX1
     GenScript Custom overexpressing Cell Line Services for DMBX1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in DMBX1 promoter
     Search Chromatin IP Primers for DMBX1
     RT2 qPCR Primer Assay in human, mouse, rat DMBX1
     Search GNC Networks for DMBX1
     SABiosciences PCR Arrays including human, mouse, rat DMBX1
     Search Tocris compounds for DMBX1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     DMBX1 antibodies
     DMBX1 proteins
     DMBX1 lysates
     Search for Antibodies for DMBX1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for DMBX1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     DMBX1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for DMBX1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMBX1
     SwitchGear 3'UTR luciferase reporter plasmids for DMBX1
     SwitchGear Promoter luciferase reporter plasmids for DMBX1
     Search ThermoFisher Antibodies for DMBX1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMBX1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      DMBX1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4