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

MNX1 Gene

protein-coding   GIFtS: 57
GCID: GC07M156786

Motor Neuron And Pancreas Homeobox 1

(Previous names: homeo box HB9, homeobox HB9)
(Previous symbol: HLXB9)
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with MNX1 include imperforate anus, and sacrococcygeal teratoma, and among its related super-pathways are Regulation of beta-cell development. 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 EVX1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007741.14  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MNX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MNX1_HUMAN, P50219 (See protein sequence)
Recommended Name: Motor neuron and pancreas homeobox protein 1  
Size: 401 amino acids; 40569 Da
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50219

  • MNX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MNX1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001158727.1  NP_005506.3  

    ENSEMBL proteins: 
     ENSP00000475129   ENSP00000474286   ENSP00000252971   ENSP00000416458   ENSP00000401158  
     ENSP00000473965   ENSP00000438552  

    Human Recombinant Protein Products for MNX1: 
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    OriGene Protein Over-expression Lysate for MNX1
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    Novus Biologicals MNX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MNX1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    MNX1 for ontologies           About GeneDecksing



    MNX1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for MNX1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HOXL: Homeoboxes / ANTP class : HOXL subclass

    4 InterPro protein domains:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     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


    MNX1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity NAS--
    GO:0043565sequence-specific DNA binding IEA--
         
    MNX1 for ontologies           About GeneDecksing


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

    MNX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mnx1tm1Jhk for MNX1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MNX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MNX1
    8/25 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MNX1
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    Gene Editing
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MNX1
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MNX1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MNX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Maturity onset diabetes of the young0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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


    MNX1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

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

    MNX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MNX1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about MNX1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MNX1
    8/25 QIAGEN miScript miRNA 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:
         
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MNX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MNX1
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    Primer
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    OriGene qPCR primer pairs and template standards for MNX1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MNX1
      QIAGEN 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 X56537 BX431316 BV197273 AF107457 BM796492 BX431315 
    NM_005515 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™, 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

    MNX1 expression in normal human tissues (normalized intensities)      MNX1 embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 21 entries
             Pre-Pancreatic Foregut Endoderm Cells Prepancreatic Dorsal Foregut Endoderm
             Beta-like cells ( Serum-free protocol to generate islet clusters from embryonic...
     
     Spinal Cord (Nervous System)    fully expand to see all 16 entries
             Motor Neurons Motor Neural Progenitor Domain
             Fetal spinal cord stem cells (NSI-566)
             Motor neuron progenitors ( Generation of motor neurons using a human GFP-reporter...
             Dorsal Horn   
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
             Midbrain   
     
     Neuron (Nervous System)    fully expand to see all 7 entries
             GABA neuron-like cells ( Generation of motor and gamma-aminobutyric acid (GABA)...
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Motor Neurons Motor Neural Progenitor Domain

    See MNX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MNX1

    SOURCE GeneReport for Unigene cluster: Hs.37035

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

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    In Situ
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    (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 animals.

    Orthologs for MNX1 gene from 6/13 species (see all 13)    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 84.67(n)1
    90.5(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 77.65(n)
    77.65(a)
      395768  NM_204928.1  NP_990259.1 
    lizard
    (Anolis carolinensis)
    Reptilia MNX16
    Uncharacterized protein
    43(a)
    1 ↔ 1
    1(87939810-87954050)
    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 65.47(n)
    69.93(a)
      405399  NM_001009885.2  NP_001009885.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta exex1 extra-extra 51.15(n)
    41.38(a)
      38884  NM_139907.2  NP_648164.1 


    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)
    About This Section
    Paralogs for MNX1 gene
    EVX12  MEOX12  GBX12  EVX22  MEOX22  GBX22  
    18/35 SIMAP similar genes for MNX1 using alignment to 3 protein entries:     MNX1_HUMAN (see all proteins) (see all similar genes):
    homeobox gene    HOXA4    HMX2    HOX B6    DLX6    MSX1
    NKX2-5    HOXB8    HOXC13    HOXB1    CDX2    HHEX
    PHOX2B    HOXB3    PAX6    BARX2    NKX6-1    NOBOX

    MNX1 for paralogs           About GeneDecksing



    (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) 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

    10/155 SNPs in MNX1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/32 diseases for MNX1 (see all 32):    About MalaCards
    imperforate anus    sacrococcygeal teratoma    epispadias    exstrophy-epispadias complex
    omphalocele exstrophy imperforate anus    currarino triad    meningocele    dyskinetic cerebral palsy
    caudal regression syndrome    omphalocele    triphalangeal thumb polysyndactyly syndrome    triphalangeal thumb
    teratoma    tooth agenesis    holoprosencephaly    cerebral palsy
    acute leukemia    maturity-onset diabetes of the young    facioscapulohumeral muscular dystrophy    polydactyly

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

    MNX1 for disorders           About GeneDecksing

    10/11 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)
    About This Section

    PubMed articles for MNX1 gene, integrated from 9 sources (see all 72):
    (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. (1994)
    2. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. (PubMed id 10749657)1, 2, 9 Hagan D.M.... Lindsay S. (2000)
    3. MNX1 (HLXB9) mutations in Currarino patients. (PubMed id 19853743)1, 2, 9 Garcia-BarcelA^ M.M....Tam P.K. (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. (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. (2012)
    6. Involvement of the HLXB9 homeobox gene in Currarino syndrome. (PubMed id 10631160)1, 2 Belloni E.... Scherer S.W. (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. (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. (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. (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. (2006)

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

    (According to HUGE)
    About This Section
      --

    (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 MNX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MNX1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MNX1

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

    GeneCards and IP:
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