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MADD Gene

protein-coding   GIFtS: 63
GCID: GC11P047290

MAP-Kinase Activating Death Domain

  See MADD-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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Aliases
MAP-Kinase Activating Death Domain1 2     Rab3 GDP/GTP Exchange Factor2 3
DENN2 3 5     RAB3GEP2
Differentially Expressed In Normal And Neoplastic Cells2 3     MAP Kinase-Activating Death Domain Protein2
Insulinoma Glucagonoma Clone 202 3     KIAA03583
IG202 3     

External Ids:    HGNC: 67661   Entrez Gene: 85672   Ensembl: ENSG000001105147   OMIM: 6035845   UniProtKB: Q8WXG63   

Export aliases for MADD gene to outside databases

Previous GC identifers: GC11P049230 GC11P048168 GC11P047322 GC11P047255 GC11P047247 GC11P046990


(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 MADD Gene:
Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells
targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins.
The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death
domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic
signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several
transcript variants encoding different isoforms have been described for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for MADD Gene:
MADD (MAP-kinase activating death domain) is a protein-coding gene. Diseases associated with MADD include glucagonoma, and glutaric acidemia iia. GO annotations related to this gene include Rab guanyl-nucleotide exchange factor activity and death receptor binding.

UniProtKB/Swiss-Prot: MADD_HUMAN, Q8WXG6
Function: Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA
splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive
form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD
links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death
(TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is
resistant and isoform 3 and isoform 4 have no effect

Gene Wiki entry for MADD 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MADD gene promoter:
         AP-2alpha   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p11.2

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P047290:  view genomic region     (about GC identifiers)

Start:
47,290,712 bp from pter      End:
47,351,582 bp from pter
Size:
60,871 bases      Orientation:
plus strand

(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: MADD_HUMAN, Q8WXG6 (See protein sequence)
Recommended Name: MAP kinase-activating death domain protein  
Size: 1647 amino acids; 183303 Da
Subunit: Interacts with the death domain of TNFRSF1A through its own death domain
Miscellaneous: Overexpression of MADD activates the mitogen-activated protein (MAP) kinase extracellular
signal-regulated kinase (ERK). Expression of the MADD death domain stimulates both the ERK and c-JUN N-terminal
kinase MAP kinases and induces the phosphorylation of cytosolic phospholipase A2
Sequence caution: Sequence=BAA20814.2; Type=Erroneous initiation;
Secondary accessions: A8K8S7 B5MEE5 D3DQR4 O15065 O15293 Q15732 Q15741 Q8IWD7 Q8WXG3 Q8WXG4
Q8WXG5 Q8WZ63
Alternative splicing: 8 isoforms:  Q8WXG6-1   Q8WXG6-2   Q8WXG6-3   Q8WXG6-4   Q8WXG6-5   Q8WXG6-6   Q8WXG6-7   Q8WXG6-8   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MADD: NX_Q8WXG6

Explore proteomics data for MADD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (10 alternative transcripts): 
    NP_001129415.1  NP_001129416.1  NP_003673.3  NP_569826.2  NP_569827.2  NP_569828.2  NP_569829.2  NP_569830.2  
    NP_569831.1  NP_569832.2  

    ENSEMBL proteins: 
     ENSP00000388255   ENSP00000343902   ENSP00000398167   ENSP00000385585   ENSP00000384435  
     ENSP00000304505   ENSP00000310933   ENSP00000384204   ENSP00000378753   ENSP00000413116  
     ENSP00000378745   ENSP00000384287   ENSP00000402364   ENSP00000384483  

    MADD Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for MADD
    OriGene Custom MassSpec
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    Novus Biologicals MADD Protein
    Novus Biologicals MADD Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MADD

     
    Search eBioscience for Proteins for MADD 

    MADD Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for MADD (Q8WXG6, P13804)
    Cloud-Clone Corp. Antibodies for MADD
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    LSBio Antibodies in human, mouse, rat for MADD

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    Search eBioscience for ELISAs for MADD 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    DENND: DENN/MADD domain containing

    3 InterPro protein domains:
     IPR005112 dDENN_dom
     IPR005113 uDENN_dom
     IPR001194 DENN_dom

    Graphical View of Domain Structure for InterPro Entry Q8WXG6

    ProtoNet protein and cluster: Q8WXG6

    UniProtKB/Swiss-Prot: MADD_HUMAN, Q8WXG6
    Similarity: Belongs to the MADD family
    Similarity: Contains 1 dDENN domain
    Similarity: Contains 1 death domain
    Similarity: Contains 1 DENN domain
    Similarity: Contains 1 uDENN domain


    Find genes that share domains with MADD           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: MADD_HUMAN, Q8WXG6
    Function: Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA
    splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive
    form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD
    links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death
    (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is
    resistant and isoform 3 and isoform 4 have no effect

         Genatlas biochemistry entry for MADD:
    Map kinase-activating death domain protein homolog and similar to C elegans AEX3,differentially expressed in
    normal and neoplastic cell,linkingTNFR1 with MAP kinase activation and arachidonic acid release and provide
    further insight into the mechanisms by which TNF exerts its pleiotropic effects

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005123death receptor binding TAS9115275
    GO:0005515protein binding IPI16273344
    GO:0017112Rab guanyl-nucleotide exchange factor activity IMP9115275
    GO:0030295protein kinase activator activity TAS9115275
         
    Find genes that share ontologies with MADD           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Madd):
     behavior/neurological  integument  mortality/aging  nervous system  respiratory system 

    Find genes that share phenotypes with MADD           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Maddtm1Ytk for MADD

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

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

    miRNA
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    miRTarBase miRNAs that target MADD:
    hsa-mir-26b-5p (MIRT029280)

    Block miRNA regulation of human, mouse, rat MADD using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MADD (see all 15):
    hsa-miR-3678-3p hsa-miR-181c hsa-miR-3166 hsa-miR-1197 hsa-miR-130a* hsa-miR-23c hsa-miR-181a hsa-miR-181d
    SwitchGear 3'UTR luciferase reporter plasmidMADD 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MADD
    Predesigned siRNA for gene silencing in human, mouse, rat MADD

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 10): MADD (NM_130476)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MADD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MADD

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MADD 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MADD


    (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
    MADD_HUMAN, Q8WXG6: Membrane. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IDA--
    GO:0016021integral component of membrane IDA8988362

    Find genes that share ontologies with MADD           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 MADD About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1TWEAK Pathway
    TNFR1 Pathway0.56
    TNF Signaling0.55
    2Apoptosis and survival Caspase cascade
    Caspase cascade in apoptosis0.42
    3TRAF Pathway
    TRAF Pathway0.42
    4Apoptosis (WikiPathways)
    Apoptosis Modulation and Signaling0.38
    5TNF receptor signaling pathway
    TNF receptor signaling pathway

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MADD
        TNF Signaling
    TRAF Pathway
    TNFR1 Pathway

    5 BioSystems Pathways for MADD
        Apoptosis Modulation and Signaling
    Deregulation of Rab and Rab Effector Genes in Bladder Cancer
    Caspase cascade in apoptosis
    Ceramide signaling pathway
    TNF receptor signaling pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including MADD: 
              TNF Ligands & Receptors in human mouse rat
              Apoptosis 384HT in human mouse rat
              Necrosis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MADD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for MADD (Q8WXG61, 3 ENSP000003109334) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPRNQ168491, 3, ENSP000002957184EBI-310528,EBI-728153 I2D: score=3 STRING: ENSP00000295718
    VPS13DQ5THJ43, ENSP000003508544I2D: score=2 STRING: ENSP00000350854
    NPDC1Q9NQX53, ENSP000003606604I2D: score=1 STRING: ENSP00000360660
    PIDDQ9HB753, ENSP000003377974I2D: score=2 STRING: ENSP00000337797
    TNFRSF10AO002203, ENSP000002211324I2D: score=1 STRING: ENSP00000221132
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity IMP9115275
    GO:0007166cell surface receptor signaling pathway TAS9115275
    GO:0032313regulation of Rab GTPase activity IMP9115275
    GO:0032483regulation of Rab protein signal transduction IDA--
    GO:0042981regulation of apoptotic process IMP11577081

    Find genes that share ontologies with MADD           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 MADD

    2 HMDB Compounds for MADD    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    4 Novoseek inferred chemical compound relationships for MADD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 66.9 4 12410563 (1), 11563850 (1), 15464446 (1), 9796103 (1)
    gtp 56.4 4 12410563 (1), 11563850 (1), 15464446 (1), 9796103 (1)
    vinblastine 46.1 1 14695193 (1)
    etoposide 31.8 1 14695193 (1)



    Find genes that share compounds with MADD           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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    REFSEQ mRNAs for MADD gene (10 alternative transcripts): 
    NM_001135943.1  NM_001135944.1  NM_003682.3  NM_130470.2  NM_130471.2  NM_130472.2  NM_130473.2  NM_130474.2  
    NM_130475.2  NM_130476.2  

    Unigene Cluster for MADD:

    MAP-kinase activating death domain
    Hs.82548  [show with all ESTs]
    Unigene Representative Sequence: NM_003682
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000453571 ENST00000342922(uc001neq.2) ENST00000428807 ENST00000402799(uc009yln.1 uc001neu.1)
    ENST00000406482(uc001nev.1) ENST00000349238(uc001net.1) ENST00000311027(uc001ner.1)
    ENST00000407859(uc001nes.1) ENST00000534808 ENST00000395344 ENST00000444117
    ENST00000395336(uc001nex.2) ENST00000526603 ENST00000402192(uc001nez.2 uc001new.2)
    ENST00000422579 ENST00000489415 ENST00000524530 ENST00000524686
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MADD (see all 15):
    hsa-miR-3678-3p hsa-miR-181c hsa-miR-3166 hsa-miR-1197 hsa-miR-130a* hsa-miR-23c hsa-miR-181a hsa-miR-181d
    SwitchGear 3'UTR luciferase reporter plasmidMADD 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MADD
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 10): MADD (NM_130476)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MADD
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MADD
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MADD
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      QuantiFast Probe-based Assays in human, mouse, rat MADD

    Additional mRNA sequence: 

    AB002356.1 AF440100.1 AF440101.1 AF440102.1 AF440103.1 AF440434.1 AK292442.1 BC040484.1 
    U44953.1 U77352.1 

    20 DOTS entries:

    DT.95196710  DT.100824108  DT.95196696  DT.95196704  DT.91680541  DT.95196665  DT.75126953  DT.100029601 
    DT.100824110  DT.100824109  DT.100646688  DT.87015779  DT.120754723  DT.40213898  DT.120754703  DT.120754733 
    DT.120754744  DT.91894316  DT.97848210  DT.91739600 

    Selected AceView cDNA sequences (see all 268):

    CB115976 CD242691 AU130871 NM_130474 BM757184 CA487563 NM_130473 AB002356 
    AL041084 BM743699 CB130946 AA771933 CA435662 NM_130472 AA731365 BQ216930 
    BQ640625 AX747807 AA376927 NM_130476 BM547742 CD722967 BM699383 BQ434951 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MADD (see all 21)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
    SP1:              -     -     -     -     -                                               -                                                                     
    SP2:                                      -                                               -                                                                     
    SP3:              -     -     -     -     -                                               -                                                                 -   
    SP4:              -     -     -     -     -                                               -                                                                     
    SP5:        -     -     -     -     -     -                                               -                                                                     

    ExUns: 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c · 23d ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^
    SP1:  -                                                                                                                                                         
    SP2:  -                                                                                                                                                         
    SP3:  -                                                                       -                                         -                                       
    SP4:  -                                                                       -                                         -                                       
    SP5:  -                 -                                                     -                                         -                                       

    ExUns: 37 ^ 38a · 38b ^ 39a · 39b ^ 40a · 40b
    SP1:              -     -                     
    SP2:        -     -     -                     
    SP3:              -     -                     
    SP4:              -     -                     
    SP5:              -     -                     


    ECgene alternative splicing isoforms for MADD

    (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)
    About This Section

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


    MADD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             Cerebral Cortex
    MADD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MADD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.82548

    UniProtKB/Swiss-Prot: MADD_HUMAN, Q8WXG6
    Tissue specificity: Highly expressed in fetal brain and kidney; adult testis, ovary, brain and heart. Isoform 5 is
    constitutively expressed in all tissues. Isoform 7 is expressed in fetal liver and in several cancer cell lines

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MADD: 
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              Apoptosis 384HT in human mouse rat
              Necrosis in human mouse rat

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

    Orthologs for MADD gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Madd1 , 5 MAP-kinase activating death domain1, 5 89.74(n)1
    95.81(a)1
      2 (50.46 cM)5
    2283551  NM_001177720.11  NP_001171191.11 
     911373605 
    chicken
    (Gallus gallus)
    Aves MADD1 MAP-kinase activating death domain 76.59(n)
    85.18(a)
      423184  XM_004941566.1  XP_004941623.1 
    lizard
    (Anolis carolinensis)
    Reptilia MADD6
    MAP-kinase activating death domain
    82(a)
    1 ↔ 1
    1(43825831-43891618)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.16132 Xenopus laevis transcribed sequence with moderate similarity more 77.37(n)    CD255867.1 
    zebrafish
    (Danio rerio)
    Actinopterygii madd1 MAP-kinase activating death domain 70.17(n)
    75.5(a)
      100150917  XM_005168955.1  XP_005169012.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rab3-GEF1 , 3 neurotransmitter secretion RAB
    guanyl-nucleotide more3
    rab3-GEF1
    41(a)3
    56.87(n)1
    56.47(a)1
      324421  NM_001103513.21  NP_001096983.21 
    worm
    (Caenorhabditis elegans)
    Secernentea aex-31 , 3 Expression: neurons3
    aex-31
    41(a)3
    53.74(n)1
    49.85(a)1
      X(786832-795009)3
    1804201  NM_171618.31  NP_741710.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MADD gene
    3 SIMAP similar genes for MADD using alignment to 6 protein entries:     MADD_HUMAN (see all proteins):
    DENN    DENND5B    DENND3

    Find genes that share paralogs with MADD           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 MADD (see all 1515)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1429600701,2
    C--46990794(+) CCGGT-/GGGGGT 10 -- int10--------
    rs2010729071,2
    C--46992257(+) AATTC-/TTTTTT 10 -- int10--------
    rs113188341,2
    C--46993868(+) CTACA-/T/TT  
            
    TTTTT
    10 -- int1 trp32NA CSA 4
    rs1504788001,2
    C--46993869(+) CTACA-/TTTTTTT 10 -- int10--------
    rs802702791,2
    C--46993879(+) TTTTTC/TTCTTG 10 -- int11Minor allele frequency- T:0.00NA 2
    rs1130123341,2
    C--47015671(+) TTTTTT/-GAGAC 10 -- int11Minor allele frequency- -:0.00CSA 2
    rs1490259051,2
    --47020238(+) TAGGG-/CT    
       TTTTT
    TTTTT
    10 -- int10--------
    rs1414737741,2
    --47020276(+) AACCA-/CCAC  
      CTCCCG
    GGCTC
    10 -- int10--------
    rs355949041,2
    C--47021114(+) CGCCC-/TGCCCC 10 -- int10--------
    rs1382263731,2
    C--47021596(+) TTTTT-/TGTTTT 10 -- int10--------

    HapMap Linkage Disequilibrium report for MADD (47290712 - 47351582 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MADD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897323CNV Loss21882294
    nsv832141CNV Loss17160897
    nsv825870CNV Gain20364138

    Human Gene Mutation Database (HGMD): MADD
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MADD
    DNA2.0 Custom Variant and Variant Library Synthesis for MADD

    (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: 603584    OMIM disorders: --

    6 diseases for MADD:    
    About MalaCards
    glucagonoma    glutaric acidemia iia    glutaric acidemia iib    glutaric acidemia iic
    insulinoma    diastolic heart failure


    Find genes that share disorders with MADD           About GenesLikeMe

    3 Novoseek inferred disease relationships for MADD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 41 14 11577081 (2), 19289468 (2), 17314102 (1), 14695193 (1) (see all 7)
    cancer 29.2 16 12410563 (3), 17314102 (2), 16682944 (2), 19289468 (2) (see all 6)
    tumors 25.9 22 19190106 (3), 11577081 (2), 14695193 (2), 19289468 (2) (see all 9)

    Genetic Association Database (GAD): MADD
    Human Genome Epidemiology (HuGE) Navigator: MADD (19 documents)

    Export disorders for MADD 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 MADD gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with MADD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human DENN gene: genomic organization, alternative splicing, and localization to chromosome 11p11.21-p11.22. (PubMed id 9796103)1, 2, 3, 9 Chow V.T.K.... Lim D. (Genome 1998)
    2. MADD, a novel death domain protein that interacts with the type 1 tumor necrosis factor receptor and activates mitogen-activated protein kinase. (PubMed id 9115275)1, 2, 3 Schievella A.R.... Lin L.-L. (J. Biol. Chem. 1997)
    3. IG20, in contrast to DENN-SV, (MADD splice variants) suppresses tumor cell survival, and enhances their susceptibility to apoptosis and cancer drugs. (PubMed id 14716293)1, 2, 9 Efimova E.V.... Prabhakar B.S. (Oncogene 2004)
    4. Contrasting effects of IG20 and its splice isoforms, MADD and DENN- SV, on tumor necrosis factor alpha-induced apoptosis and activation of caspase-8 and -3. (PubMed id 11577081)1, 2, 9 Al-Zoubi A.M.... Prabhakar B.S. (J. Biol. Chem. 2001)
    5. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. (PubMed id 21873549)1, 4 Strawbridge R.J....Florez J.C. (Diabetes 2011)
    6. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    7. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (PubMed id 20081858)1, 4 Dupuis J....Barroso I. (Nat. Genet. 2010)
    8. Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people. (PubMed id 20419449)1, 4 Boesgaard T.W....Pedersen O. (Diabetologia 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (PubMed id 19060911)1, 4 Aulchenko Y.S....Peltonen L. (Nat. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8567 HGNC: 6766 AceView: MADD Ensembl:ENSG00000110514 euGenes: HUgn8567
    ECgene: MADD H-InvDB: MADD

    (According to HUGE)
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    HUGE: KIAA0358

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MADD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MADD Genetics and Cytogenetics in Oncology and Haematology

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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