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MNX1 Gene

protein-coding   GIFtS: 56
GCID: GC07M156786

Motor Neuron And Pancreas Homeobox 1

(Previous names: homeo box HB9, homeobox HB9)
(Previous symbol: HLXB9)
  See MNX1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 5

Aliases
Motor Neuron And Pancreas Homeobox 11 2     SCRA12 5
HLXB91 2 3 5     Homeo Box HB91
Homeobox HB91 2     HB92
Homeobox Protein HB92 3     Motor Neuron And Pancreas Homeobox Protein 12
HOXHB92 5     

External Ids:    HGNC: 49791   Entrez Gene: 31102   Ensembl: ENSG000001306757   OMIM: 1429945   UniProtKB: P502193   
ORGUL members:    fRNAdb10:FR138284 FR036126 FR061116      
NCBI13:AY927465 AY927459 AY927457    
RNAdb15:LIT3487 LIT3485 LIT3483    

Export aliases for MNX1 gene to outside databases

Previous GC identifers: GC07M156491 GC07M150530


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MNX1 Gene:
This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in
this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Sep 2009)

GeneCards Summary for MNX1 Gene:
MNX1 (motor neuron and pancreas homeobox 1) is a protein-coding gene. Diseases associated with MNX1 include sacrococcygeal teratoma, and currarino triad. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DLX2.

UniProtKB/Swiss-Prot: MNX1_HUMAN, P50219
Function: Putative transcription factor involved in pancreas development and function

Gene Wiki entry for MNX1 Gene

fRNAdb sequence ontology for MNX1:
mature_transcript - A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified.

View fRNAdb secondary structures for MNX1

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MNX1 gene promoter:
         AML1a   GATA-3   FOXF2   Nkx2-5   GATA-1   POU2F1   POU2F1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): MNX1 promoter sequence
   Search Chromatin IP Primers for MNX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MNX1


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

Entrez Gene cytogenetic band: 7q36   Ensembl cytogenetic band:  7q36.3   HGNC cytogenetic band: 7q36

MNX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MNX1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M156786:  view genomic region     (about GC identifiers)

Start:
156,786,745 bp from pter      End:
156,803,347 bp from pter
Size:
16,603 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 156,026,905-156,032,706     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MNX1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MNX1_HUMAN, P50219 (See protein sequence)
Recommended Name: Motor neuron and pancreas homeobox protein 1  
Size: 401 amino acids; 40569 Da
Secondary accessions: F5H401 Q9Y648
Alternative splicing: 2 isoforms:  P50219-1   P50219-2   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for MNX1: NX_P50219

Explore proteomics data for MNX1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MNX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001158727.1  NP_005506.3  

    ENSEMBL proteins: 
     ENSP00000475129   ENSP00000474286   ENSP00000252971   ENSP00000416458   ENSP00000401158  
     ENSP00000473965   ENSP00000438552  

    MNX1 Human Recombinant Protein Products:

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    OriGene Purified Protein for MNX1
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    Novus Biologicals MNX1 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MNX1

     
    Search eBioscience for Proteins for MNX1 

    MNX1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MNX1
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    LSBio Antibodies in human, mouse, rat for MNX1

    MNX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    HOXL: Homeoboxes / ANTP class : HOXL subclass

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P50219

    ProtoNet protein and cluster: P50219

    UniProtKB/Swiss-Prot: MNX1_HUMAN, P50219
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with MNX1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MNX1_HUMAN, P50219
    Function: Putative transcription factor involved in pancreas development and function

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with MNX1           About GenesLikeMe


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Mnx1):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     muscle  nervous system  normal  respiratory system  skeleton 

    Find genes that share phenotypes with MNX1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mnx1tm1Jhk for MNX1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MNX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MNX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MNX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MNX1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MNX1:
    hsa-mir-101-3p (MIRT027276)

    Block miRNA regulation of human, mouse, rat MNX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MNX1 (see all 25):
    hsa-miR-498 hsa-miR-181c hsa-miR-300 hsa-miR-200a hsa-miR-410 hsa-miR-520a-5p hsa-miR-1297 hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidMNX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MNX1
    Predesigned siRNA for gene silencing in human, mouse, rat MNX1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): MNX1 (NM_005515)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MNX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MNX1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MNX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MNX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MNX1_HUMAN, P50219: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with MNX1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MNX1 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Maturity onset diabetes of the young0.61


    Find genes that share SuperPaths with MNX1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for MNX1):
        Maturity onset diabetes of the young

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MNX1
    Interactions:

        Search GeneGlobe Interaction Network for MNX1

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

    1 Interacting protein for MNX1 (ENSP000002529714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDX1ENSP000003704214STRING: ENSP00000370421
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS9843207
    GO:0006959humoral immune response TAS7914194

    Find genes that share ontologies with MNX1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MNX1

    2 Novoseek inferred chemical compound relationships for MNX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 20.6 4 11251992 (1), 15969621 (1), 17457565 (1)
    alanine 0 2 16254195 (1), 7914194 (1)



    Find genes that share compounds with MNX1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    3 fRNAdb Secondary structures:


    REFSEQ mRNAs for MNX1 gene (2 alternative transcripts): 
    NM_001165255.1  NM_005515.3  

    Unigene Cluster for MNX1:

    Motor neuron and pancreas homeobox 1
    Hs.37035  [show with all ESTs]
    Unigene Representative Sequence: NM_005515
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469500 ENST00000479817 ENST00000252971(uc003wna.3 uc003wnd.1)
    ENST00000425745 ENST00000428439(uc003wmz.3) ENST00000474448 ENST00000605400
    ENST00000543409(uc003wnc.1 uc022aqk.1 uc010lqr.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MNX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MNX1 (see all 25):
    hsa-miR-498 hsa-miR-181c hsa-miR-300 hsa-miR-200a hsa-miR-410 hsa-miR-520a-5p hsa-miR-1297 hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidMNX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MNX1
    Predesigned siRNA for gene silencing in human, mouse, rat MNX1
    Clone
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    OriGene ORF clones in mouse, rat for MNX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MNX1 (NM_005515)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MNX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MNX1
    Primer
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    OriGene qPCR primer pairs and template standards for MNX1
    OriGene qSTAR qPCR primer pairs in human, mouse for MNX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MNX1
      QuantiTect SYBR Green Assays in human, mouse, rat MNX1
      QuantiFast Probe-based Assays in human, mouse, rat MNX1

    Additional mRNA sequence: 

    AF107457.1 AY927457.1 AY927459.1 AY927460.1 AY927462.1 X56537.1 

    5 DOTS entries:

    DT.304441  DT.99987711  DT.97770429  DT.40239428  DT.95111307 

    16 AceView cDNA sequences:

    CR623223 BM967362 NM_005515 X56537 BM796492 BX431316 BX431315 BV197273 
    AF107457 BX425289 BM126894 BM129186 BX281166 BF732772 BM128696 BM128910 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MNX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAATTATT
    MNX1 Expression
    About this image


    MNX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 19 entries
             Pancreatic Progenitor Cells Ventral Pancreatic Bud
             Posterior foregut endoderm-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 20 entries
             Motor Neurons Motor Neural Progenitor Domain
             Fetal spinal cord stem cells (NSI-566)
             Motor neuron progenitor cells
     
     Neurons
             Motor Neurons Motor Neural Progenitor Domain
             Motor neuron-like and interneuron-like cells
     
     Motor Neurons (Nervous System)    fully expand to see all 16 entries
             Motor neuron progenitor cells
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Motor Neurons Motor Neural Progenitor Domain
             Neuronal progenitor cells
    MNX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MNX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.37035

    UniProtKB/Swiss-Prot: MNX1_HUMAN, P50219
    Tissue specificity: Expressed in lymphoid and pancreatic tissues

        Custom PCR Arrays for MNX1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MNX1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for MNX1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mnx11 , 5 motor neuron and pancreas homeobox 11, 5 82.33(n)1
    86.5(a)1
      5 (15.04 cM)5
    152851  NM_019944.21  NP_064328.21 
     294730385 
    chicken
    (Gallus gallus)
    Aves MNX11 motor neuron and pancreas homeobox 1 84.23(n)
    88.17(a)
      395768  NM_204928.1  NP_990259.1 
    lizard
    (Anolis carolinensis)
    Reptilia MNX16
    motor neuron and pancreas homeobox 1
    66(a)
    1 ↔ 1
    6(6396846-6403547)
    African clawed frog
    (Xenopus laevis)
    Amphibia hlxb9-A2 homeo box HB9 76.12(n)    AF072382.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mnx11 motor neuron and pancreas homeobox 1 66.67(n)
    70.41(a)
      405399  NM_001009885.2  NP_001009885.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta exex6
    extra-extra
    20(a)
    1 ↔ 1
    3L(7941286-7944663)


    ENSEMBL Gene Tree for MNX1 (if available)
    TreeFam Gene Tree for MNX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MNX1 gene
    DLX22  BARX12  GBX12  NKX1-12  VENTX2  GBX22  BARHL12  BARHL22  
    BARX22  DLX12  DLX32  LBX22  NKX1-22  BSX2  DLX52  DLX62  
    DLX42  LBX12  MSX22  MSX12  
    Selected SIMAP similar genes for MNX1 using alignment to 6 protein entries:     MNX1_HUMAN (see all proteins) (see all similar genes):
    homeobox gene    HOXA4    HMX2    HOX B6    DLX6    MSX1
    NKX2-5    HOXB8    HOXC13    HOXB1    HHEX    PHOX2B
    HOXB3    BARX2    NOBOX    HLX    PITX1    TPRX1

    Find genes that share paralogs with MNX1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MNX1 (see all 155)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0178814
    Currarino syndrome (CURRAS)4--see VAR_0178812 R Q mis40--------
    VAR_0178824
    Currarino syndrome (CURRAS)4--see VAR_0178822 R W mis40--------
    VAR_0178804
    Currarino syndrome (CURRAS)4--see VAR_0178802 R W mis40--------
    VAR_0178764
    Currarino syndrome (CURRAS)4--see VAR_0178762 T S mis40--------
    VAR_0178774
    Currarino syndrome (CURRAS)4--see VAR_0178772 W G mis40--------
    VAR_0178784
    Currarino syndrome (CURRAS)4--see VAR_0178782 W L mis40--------
    VAR_0684744
    Currarino syndrome (CURRAS)4--see VAR_0684742 F S mis40--------
    VAR_0178794
    Currarino syndrome (CURRAS)4--see VAR_0178792 Q P mis40--------
    VAR_0178744
    Currarino syndrome (CURRAS)4--see VAR_0178742 R G mis40--------
    VAR_0178754
    Currarino syndrome (CURRAS)4--see VAR_0178752 R H mis40--------

    HapMap Linkage Disequilibrium report for MNX1 (156786745 - 156803347 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MNX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6022CNV Insertion18451855
    nsv889569CNV Loss21882294
    nsv889570CNV Loss21882294
    nsv465249CNV Loss19166990
    dgv7560n71CNV Loss21882294
    nsv824418CNV Gain20364138
    dgv1150n67CNV Gain20364138

    Human Gene Mutation Database (HGMD): MNX1
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 142994OMIM information:   
    OMIM disorders: 176450  
    UniProtKB/Swiss-Prot: MNX1_HUMAN, P50219
  • Currarino syndrome (CURRAS) [MIM:176450]: The triad of a presacral tumor, sacral agenesis and anorectal
    malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during
    embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for MNX1:    
    About MalaCards
    sacrococcygeal teratoma    currarino triad    epispadias    exstrophy-epispadias complex
    imperforate anus    meningocele    omphalocele    caudal regression syndrome
    triphalangeal thumb    teratoma

    3 diseases from the University of Copenhagen DISEASES database for MNX1:
    Leukemia     Meningocele     Tooth agenesis

    Find genes that share disorders with MNX1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MNX1 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anorectal anomalies 86.3 3 17560192 (1), 19853743 (1), 16254195 (1)
    meningocele 76 1 14663834 (1)
    leukemogenesis 57.6 3 15540222 (1), 7680402 (1)
    teratoma 54.9 1 14663834 (1)
    chromosome deletion 54.8 1 10852374 (1)
    holoprosencephaly 52.1 2 10852374 (1), 15211664 (1)
    congenital malformation 26.1 1 16906559 (1)
    trisomy 24 1 10852374 (1)
    leukemia 20.4 3 16646086 (1), 19212340 (1), 15540222 (1)
    acute leukemia 19.4 4 7680402 (4)

    Genetic Association Database (GAD): MNX1
    Human Genome Epidemiology (HuGE) Navigator: MNX1 (1 document)

    Export disorders for MNX1 gene to outside databases

    (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)
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    PubMed articles for MNX1 gene, integrated from 10 sources (see all 73):
    (articles sorted by number of sources associating them with MNX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues. (PubMed id 7914194)1, 2, 9 Harrison K.A.... Kehrl J.H. (J. Biol. Chem. 1994)
    2. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. (PubMed id 10749657)1, 2, 9 Hagan D.M.... Lindsay S. (Am. J. Hum. Genet. 2000)
    3. MNX1 (HLXB9) mutations in Currarino patients. (PubMed id 19853743)1, 2, 9 Garcia-Barcelo M.M.... Tam P.K. (J. Pediatr. Surg. 2009)
    4. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. (PubMed id 9843207)1, 3, 9 Ross A.J....Strachan T. (Nat. Genet. 1998)
    5. Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype. (PubMed id 22820079)1, 2 Markljung E....Nordenskjold A. (Gene 2012)
    6. Involvement of the HLXB9 homeobox gene in Currarino syndrome. (PubMed id 10631160)1, 2 Belloni E.... Scherer S.W. (Am. J. Hum. Genet. 2000)
    7. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. (PubMed id 10329000)1, 2 Heus H.C.... Heutink P. (Genomics 1999)
    8. HLXB9 activates IL6 in Hodgkin lymphoma cell lines and is regulated by PI3K signalling involving E2F3. (PubMed id 15772702)1, 9 Nagel S....MacLeod R.A. (Leukemia 2005)
    9. Three-way complex translocations in infant acute myeloid leukemia with t(7;12)(q36;p13): the incidence and correlation of a HLXB9 overexpression. (PubMed id 19446746)1, 9 Park J....Kim H.K. (Cancer Genet. Cytogenet. 2009)
    10. High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9. (PubMed id 16646086)1, 9 von Bergh A.R....Beverloo H.B. (amp 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3110 HGNC: 4979 AceView: HLXB9 Ensembl:ENSG00000130675 euGenes: HUgn3110
    ECgene: MNX1 Kegg: 3110 H-InvDB: MNX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MNX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MNX1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MNX1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MNX1 gene:
    Search GeneIP for patents involving MNX1

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



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