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

MEN1 Gene

protein-coding   GIFtS: 66
GCID: GC11M064570

Multiple Endocrine Neoplasia I

  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

Aliases
Multiple Endocrine Neoplasia I1 2
menin1 2
SCG22 3
MEAI2

External Ids:    HGNC: 70101   Entrez Gene: 42212   Ensembl: ENSG000001338957   OMIM: 6137335   UniProtKB: O002553   

Export aliases for MEN1 gene to outside databases

Previous GC identifers: GC11P067708 GC11M066252 GC11M064821 GC11M064346 GC11M064327 GC11M060898


(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 MEN1 Gene:
This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine
neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear
localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is
not known. Two messages have been detected on northern blots but the larger message has not been characterized.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Oct 2008)

GeneCards Summary for MEN1 Gene: 
MEN1 (multiple endocrine neoplasia I) is a protein-coding gene. Diseases associated with MEN1 include familial isolated hyperparathyroidism, and parathyroid adenoma, and among its related super-pathways are SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription and Gene Expression. GO annotations related to this gene include sequence-specific DNA binding and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot: MEN1_HUMAN, O00255
Function: Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically
methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and
represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly
regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as
well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved
in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair

Gene Wiki entry for MEN1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MEN1 gene promoter:
         PPAR-gamma1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MEN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MEN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MEN1


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

MEN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEN1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064570:  view genomic region     (about GC identifiers)

Start:
64,570,982 bp from pter      End:
64,578,766 bp from pter
Size:
7,785 bases      Orientation:
minus strand

(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: MEN1_HUMAN, O00255 (See protein sequence)
Recommended Name: Menin  
Size: 615 amino acids; 68023 Da
Subunit: Component of the MLL-HCF complex, at least composed of KMT2A/MLL1, MEN1, ASH2L, RBBP5, DPY30, WDR5, HCFC1
and HCFC2. Component of the menin-associated histone methyltransferase complex, at least composed of KMT2B/MLL4,
MEN1, ASH2L, RBBP5, DPY30 and WDR5. Interacts with POLR2B. Interacts with POLR2A phosphorylated at 'Ser-5', but
not with the unphosphorylated, nor 'Ser-2' phosphorylated POLR2A forms. Interacts with FANCD2 and DBF4. Interacts
with JUND. Interacts with SMAD3, but not with SMAD2, nor SMAD4. Directly interacts with NFKB1, NFKB2 and RELA
Subcellular location: Nucleus. Note=Concentrated in nuclear body-like structures. Relocates to the nuclear matrix
upon gamma irradiation
Sequence caution: Sequence=ABQ12624.1; Type=Frameshift; Positions=383; Note=The frameshift is caused by a single
nucleotide deletion which is found in a MEN1 kindred; Sequence=ABQ12627.1; Type=Frameshift; Positions=97;
Note=The frameshift is caused by a single nucleotide deletion which is found in a MEN1 kindred;
6/9 PDB 3D structures from and Proteopedia for MEN1 (see all 9):
3U84 (3D)        3U85 (3D)        3U86 (3D)        3U88 (3D)        4GPQ (3D)        4GQ3 (3D)    
Secondary accessions: A5HBC6 A5HBC7 A5HBC8 A5HBC9 A5HBD0 A5HBD1 A5HBD2 O00632 Q9BUF0 Q9BUK2
Alternative splicing: 3 isoforms:  O00255-1   O00255-2   O00255-3   

Explore the universe of human proteins at neXtProt for MEN1: NX_O00255

Explore proteomics data for MEN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00255

  • MEN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MEN1 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_000235.2  NP_570711.1  NP_570712.1  NP_570713.1  NP_570714.1  NP_570715.1  NP_570716.1  

    ENSEMBL proteins: 
     ENSP00000366533   ENSP00000366538   ENSP00000366543   ENSP00000308975   ENSP00000323747  
     ENSP00000366530   ENSP00000413944   ENSP00000394933   ENSP00000411218   ENSP00000402752  
     ENSP00000388016   ENSP00000337088   ENSP00000377901   ENSP00000377899   ENSP00000396940  
    Reactome Protein details: O00255
    Human Recombinant Protein Products for MEN1: 
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    Novus Biologicals MEN1 Proteins
    Novus Biologicals MEN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MEN1 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IDA12874027
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    MEN1 for ontologies           About GeneDecksing



    MEN1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for MEN1 

    Assay Products for MEN1: 
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    GenScript Custom Assay Services for MEN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MEN1 
    Cloud-Clone Corp. CLIAs for MEN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007747 Menin

    Graphical View of Domain Structure for InterPro Entry O00255

    ProtoNet protein and cluster: O00255


    MEN1 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: MEN1_HUMAN, O00255
    Function: Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically
    methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and
    represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly
    regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as
    well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved
    in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair

         Genatlas biochemistry entry for MEN1:
    menin,nuclear protein of unknown function,ubiquitously expressed,transcriptional repressor through interaction
    with the transcription factor JUND by an histone deacetylase dependent mechanism,mutated in multiple endocrine
    neoplasia 1,isolated hyperparathyroid tumor,gastrinoma,insulinoma,bronchial carcinoid

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000400four-way junction DNA binding IDA15331604
    GO:0000403Y-form DNA binding IDA15331604
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003690double-stranded DNA binding IDA15331604
         
    MEN1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MEN1:
     Decreased viability  Decreased viability with pacli  Enable proliferation in B-Raf  

         15 MGI mutant phenotypes (inferred from 12 alleles(MGI details for Men1):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  nervous system  reproductive system  tumorigenesis 

    MEN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MEN1: Men1tm1Rvt Men1tm1.1Ctre Men1tm1.1Zqw Men1tm1.1Gfk Men1tm1Zqw Men1tm1Mmey
                                                         Men1tm2.1Gfk

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MEN1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MEN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MEN1 

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MEN1:
    hsa-miR-3155 hsa-miR-1238 hsa-miR-24 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidMEN1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 7): MEN1 (NM_130799)
    Sino Biological Human cDNA Clone for MEN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEN1
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                         Customized lentivirus expression plasmids for stable overexpression of MEN1 

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    (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 MEN1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer0.63
    Signaling by TGF-beta Receptor Complex0.61
    SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription0.63
    2Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    3Cell cycle
    Cell cycle0.59
    4Signaling by GPCR
    Signal Transduction0.55
    5Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for MEN1
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for MEN1
        Cell cycle


    5/6        Reactome Pathways for MEN1 (see all 6)
        Signaling by TGF-beta Receptor Complex
    Generic Transcription Pathway
    Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
    Signal Transduction
    Gene Expression


    1         Kegg Pathway  (Kegg details for MEN1):
        Transcriptional misregulation in cancer


    MEN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MEN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/75 Interacting proteins for MEN1 (O002551, 2, 3 ENSP000003370884) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/45 biological process terms (GO ID links to tree view) (see all 45):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA9989505
    GO:0000165MAPK cascade IDA12226747
    GO:0001503ossification ----
    GO:0001776leukocyte homeostasis IEA--
    GO:0001933negative regulation of protein phosphorylation IDA12226747

    MEN1 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

    MEN1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MEN1

    9 Novoseek inferred chemical compound relationships for MEN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rpa 2 50 1 15691381 (1)
    diepoxybutane 37.2 1 10915021 (1)
    estrogen 5.33 5 16651450 (3), 17024155 (1)
    thymidine 0 2 12459032 (1), 12021209 (1)
    calcium 0 4 19421129 (1), 17158076 (1)
    tyrosine 0 1 17373213 (1)
    serine 0 1 17050672 (1)
    vegf 0 2 14690153 (1), 17382271 (1)
    vitamin d 0 2 19729047 (1), 16651450 (1)

    Search CenterWatch for drugs/clinical trials and news about MEN1

    (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

    REFSEQ mRNAs for MEN1 gene (7 alternative transcripts): 
    NM_000244.3  NM_130799.2  NM_130800.2  NM_130801.2  NM_130802.2  NM_130803.2  NM_130804.2  

    Unigene Cluster for MEN1:

    Multiple endocrine neoplasia I
    Hs.423348  [show with all ESTs]
    Unigene Representative Sequence: NM_130803
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377316 ENST00000377321 ENST00000377326 ENST00000312049(uc001obm.3)
    ENST00000315422(uc001obl.3) ENST00000377313 ENST00000478548 ENST00000487019
    ENST00000440873 ENST00000450708 ENST00000413626 ENST00000429702 ENST00000424912
    ENST00000337652(uc001obr.3) ENST00000394376(uc001obq.3) ENST00000394374(uc001obj.3 uc001obk.3 uc001obo.3)
    ENST00000443283(uc001obn.3)
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    Additional mRNA sequence: 

    AJ297485.1 AJ297486.1 AJ297487.1 AJ297488.1 AJ297489.1 BC002544.2 BC002664.2 U93236.1 
    Y12338.1 

    14 DOTS entries:

    DT.97763709  DT.317546  DT.100028453  DT.100655505  DT.100028456  DT.100655496  DT.100028454  DT.91760399 
    DT.91760392  DT.97846333  DT.40110073  DT.100712842  DT.91760395  DT.95123923 

    24/277 AceView cDNA sequences (see all 277):

    CB160970 BX103683 AI275473 AI433623 AI248031 AI367230 AA877856 CD515360 
    CA313198 AW008903 AI371103 AI201282 BQ066743 CR605845 AI082242 BQ006247 
    BX393203 AA653176 BU902624 BQ226681 BQ883363 N36190 AI310413 BU730594 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MEN1 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b
    SP1:                          -     -     -     -     -     -                 -                                                     -                           
    SP2:                                                  -     -                 -           -     -     -                             -                           
    SP3:                                                                                                                                                            
    SP4:                                                  -     -                 -                                                                                 
    SP5:              -     -     -     -     -     -     -     -                                                                                                   


    ECgene alternative splicing isoforms for MEN1

    (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

    MEN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MEN1 Expression
    About this image


    See MEN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MEN1

    SOURCE GeneReport for Unigene cluster: Hs.423348

    UniProtKB/Swiss-Prot: MEN1_HUMAN, O00255
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Arrays including MEN1: 
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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 MEN1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Men11 , 5 multiple endocrine neoplasia 11, 5 88.96(n)1
    96.72(a)1
      19 (4.45 cM)5
    172831  NM_001168488.11  NP_001161960.11 
     63349795 
    lizard
    (Anolis carolinensis)
    Reptilia MEN16
    Uncharacterized protein
    87(a)
    1 ↔ 1
    GL344552.1(266-9560)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU916366.12   -- 72.92(n)    BU916366.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF212919.12   -- 76.27(n)   30130  AF212919.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mnn11 , 3 Menin 11 46(a)3
    56.26(n)1
    49.8(a)1
      27D73
    339911  NM_001042877.11  NP_001036342.11 


    ENSEMBL Gene Tree for MEN1 (if available)
    TreeFam Gene Tree for MEN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/367 SNPs in MEN1 are shown (see all 367)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0651564
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0651562 W C mis40--------
    VAR_0396394
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0396392 W S mis40--------
    VAR_0395954
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0395952 A T mis40--------
    VAR_0396474
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0396472 S R mis40--------
    VAR_0054464
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0054462 L P mis40--------
    VAR_0396404
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0396402 S R mis40--------
    VAR_0054304
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0054302 E G mis40--------
    VAR_0054254
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0054252 P L mis40--------
    VAR_0054474
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0054472 A V mis40--------
    VAR_0395904
    Familial multiple endocrine neoplasia type I (MEN1)4--see VAR_0395902 H P mis40--------

    HapMap Linkage Disequilibrium report for MEN1 (64570982 - 64578766 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for MEN1 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897702CNV Loss21882294
    dgv72n21CNV Loss19592680
    dgv1172n71CNV Loss21882294
    nsv528506CNV Loss19592680
    nsv897703CNV Loss21882294
    nsv469962CNV Loss18288195
    nsv897694CNV Loss21882294
    nsv832189CNV Loss17160897
    dgv153n27CNV Loss19166990
    dgv1171n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): MEN1

    Locus Specific Mutation Databases (LSDB): MEN1
    5/14 SABiosciences Cancer Mutation PCR Assays for MEN1 (see all 14):
    Cosmic IdAA Change
    22577p.I85fs*33
    22570p.L89R
    22640p.K119del
    22580p.I125fs*54
    22638p.G42S
    SeqTarget long-range PCR primers for resequencing MEN1
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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: 613733   
    OMIM disorders: 131100  
    UniProtKB/Swiss-Prot: MEN1_HUMAN, O00255
  • Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]: Autosomal dominant disorder
    characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and
    other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to
    hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease
    (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Familial isolated hyperparathyroidism (FIHP) [MIM:145000]: Autosomal dominant disorder characterized by
    hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/87 diseases for MEN1 (see all 87):    About MalaCards
    familial isolated hyperparathyroidism    parathyroid adenoma    adrenal adenoma    pediatric ependymoma
    parathyroid gland disease    zollinger-ellison syndrome    duodenum cancer    wermer syndrome
    multiple endocrine neoplasia    gastrinoma    follicular adenoma    chromosome 1p deletion
    primary hyperparathyroidism    parathyroid carcinoma    duodenal gastrinoma    carney complex
    pancreatic endocrine tumor    uremia    lipoma    pancreatic islet cell tumors

    15 diseases from the University of Copenhagen DISEASES database for MEN1:
    Wermer syndrome     Hyperparathyroidism     Gastrinoma     Adenoma
    Carney complex     Pituitary adenoma     Pancreatic cancer     Parathyroid adenoma
    Acromegaly     Parathyroid carcinoma     VIPoma     Hypercalcemia
    Hemangioma     Hormone producing pituitary cancer     Lipoma

    MEN1 for disorders           About GeneDecksing

    10/78 Novoseek inferred disease relationships for MEN1 gene (see all 78)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    multiple endocrine neoplasia type 1 97.9 190 10664520 (3), 10849016 (3), 10993647 (3), 10709111 (2) (see all 99)
    multiple endocrine neoplasia 90 17 11167122 (1), 11901838 (1), 16449969 (1), 10565680 (1) (see all 17)
    hrpt2 85.4 18 19474519 (4), 17065424 (3), 16430712 (3), 17338170 (2) (see all 9)
    gastrinoma 85.3 11 15944766 (2), 10548885 (2), 12915685 (1), 17961653 (1) (see all 7)
    hyperparathyroidism 84.8 59 15635078 (3), 11966738 (3), 9843042 (2), 14633735 (2) (see all 33)
    hyperparathyroidism primary 84 18 15292357 (2), 10870030 (2), 20058152 (1), 12016470 (1) (see all 15)
    parathyroid adenoma 83.5 28 10963041 (3), 15168774 (2), 8803711 (2), 10548885 (2) (see all 16)
    pituitary tumors 80.2 21 9543172 (2), 20175454 (1), 19564887 (1), 10424779 (1) (see all 17)
    parathyroid hyperplasia 79.1 5 10993646 (1), 9598800 (1), 10915003 (1), 15870131 (1) (see all 5)
    pituitary adenoma 78 29 11836268 (4), 10424779 (3), 15163308 (2), 15704128 (2) (see all 14)

    Genatlas disease: MEN1
    endocrine neoplasia,multiple,type 1,hyperparathyroidism,gastrinoma,somatotrophinoma,prolactinoma,Wermer syndrome
    (MEN1 defect),including somatic mutations in sporadic neuroendocrine and pancreatic tumors,and carcinoid tumors
    of lungs and in fore foregut neoplasms,excluding the sporadic hyperplastic or neoplastic lesions of the adrenal
    cortex

    GeneTests: MEN1
    GeneReviews: MEN1
    Genetic Association Database (GAD): MEN1
    Human Genome Epidemiology (HuGE) Navigator: MEN1 (29 documents)

    Export disorders for MEN1 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 MEN1 gene, integrated from 9 sources (see all 497):
    (articles sorted by number of sources associating them with MEN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas. (PubMed id 17555500)1, 2, 4 Haven C.J....Morreau H. (2007)
    2. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. (PubMed id 11836268)1, 4, 9 Verges B....Calender A. (2002)
    3. Somatic mutation of the MEN1 gene in parathyroid tumours. (PubMed id 9241276)1, 2, 9 Heppner C.... Marx S.J. (1997)
    4. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. (PubMed id 9215689)1, 2, 9 Agarwal S.K.... Marx S.J. (1997)
    5. Menin associates with FANCD2, a protein involved in repair of DNA damage. (PubMed id 12874027)1, 2, 9 Jin S....Hua X. (2003)
    6. Functional interaction between tumor suppressor menin and activator of S-phase kinase. (PubMed id 15374998)1, 2, 9 Schnepp R.W....Hua X. (2004)
    7. Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling. (PubMed id 11274402)1, 2, 9 Kaji H....Hendy G.N. (2001)
    8. Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age? (PubMed id 20058152)1, 4, 9 Skandarajah A....Henry J.F. (2010)
    9. Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression. (PubMed id 15199122)1, 2, 9 Yokoyama A.... Cleary M.L. (2004)
    10. The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation. (PubMed id 11526476)1, 2, 9 Heppner C....Burns A.L. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4221 HGNC: 7010 AceView: MEN1 Ensembl:ENSG00000133895 euGenes: HUgn4221
    ECgene: MEN1 Kegg: 4221 H-InvDB: MEN1

    (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 MEN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MEN1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MEN1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MEN1 gene:
    Search GeneIP for patents involving MEN1

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



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