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MAMDC2 Gene

protein-coding   GIFtS: 48
GCID: GC09P072658

MAM Domain Containing 2

  Search for MAMDC2
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
MAM Domain Containing 21 2
MAM Domain-Containing Proteoglycan2 3
MAM Domain Containing 12
MAM Domain-Containing Protein 22
mamcan2
Mamcan3

External Ids:    HGNC: 236731   Entrez Gene: 2566912   Ensembl: ENSG000001650727   OMIM: 6128795   UniProtKB: Q7Z3043   

Export aliases for MAMDC2 gene to outside databases

Previous GC identifers: GC09P068115 GC09P069888 GC09P071848 GC09P042498


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MAMDC2 Gene:
MAMDC2 (MAM domain containing 2) is a protein-coding gene. GO annotations related to this gene include glycosaminoglycan binding. An important paralog of this gene is MAMDC4.


(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_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAMDC2 gene promoter:
         NF-1   NF-1/L   FOXF2   AML1a   GCNF   HSF1 (long)   LCR-F1   GCNF-1   HSF1short   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAMDC2 promoter sequence
   Search Chromatin IP Primers for MAMDC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAMDC2


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

Entrez Gene cytogenetic band: 9q21.12   Ensembl cytogenetic band:  9q21.12   HGNC cytogenetic band: 9q21.2

MAMDC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAMDC2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P072658:  view genomic region     (about GC identifiers)

Start:
72,658,497 bp from pter      End:
72,841,888 bp from pter
Size:
183,392 bases      Orientation:
plus strand

1 alternative location:
Chr9+,NW_003315930 19,469-152,600     

(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: MAMC2_HUMAN, Q7Z304 (See protein sequence)
Recommended Name: MAM domain-containing protein 2 precursor  
Size: 686 amino acids; 77556 Da
Secondary accessions: Q5VW47 Q8WX43 Q96BM4
Alternative splicing: 2 isoforms:  Q7Z304-1   Q7Z304-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MAMDC2: NX_Q7Z304

Explore proteomics data for MAMDC2 at MOPED

Post-translational modifications: 

  • O-glycosylated (By similarity)1
  • Glycosylation2 at Asn134, Asn329, Asn524

  • See MAMDC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_694999.3  
    ENSEMBL proteins: 
     ENSP00000366387  

    MAMDC2 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for MAMDC2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000998 MAM_dom
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry Q7Z304

    ProtoNet protein and cluster: Q7Z304

    1 Blocks protein domain: IPB000998 MAM domain signature

    UniProtKB/Swiss-Prot: MAMC2_HUMAN, Q7Z304
    Similarity: Contains 4 MAM domains


    Find genes that share domains with MAMDC2           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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005539glycosaminoglycan binding IEA--
         
    Find genes that share ontologies with MAMDC2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAMDC2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAMDC2
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MAMDC2 (see all 23):
    hsa-miR-217 hsa-miR-607 hsa-miR-125a-5p hsa-miR-429 hsa-miR-181c hsa-miR-16-1* hsa-miR-628-3p hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidMAMDC2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAMDC2
    Predesigned siRNA for gene silencing in human, mouse, rat MAMDC2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MAMDC2 (NM_153267)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAMDC2

    Cell Line
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    ESI BIO PureStem Progenitor for MAMDC2: 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMDC2


    (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
    MAMC2_HUMAN, Q7Z304: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular3
    plasma membrane2
    cytosol1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005614interstitial matrix IEA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0016020membrane IEA--
    GO:0031012extracellular matrix ----

    Find genes that share ontologies with MAMDC2           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAMDC2
    Interactions:

        Search GeneGlobe Interaction Network for MAMDC2

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0019800peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan IEA--

    Find genes that share ontologies with MAMDC2           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 MAMDC2 (MAMC2)



    (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 MAMDC2 gene: 
    NM_153267.4  

    Unigene Cluster for MAMDC2:

    MAM domain containing 2
    Hs.547172  [show with all ESTs]
    Unigene Representative Sequence: BX538309
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377182(uc004ahm.2 uc004ahn.2) ENST00000460688
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MAMDC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAMDC2 (see all 23):
    hsa-miR-217 hsa-miR-607 hsa-miR-125a-5p hsa-miR-429 hsa-miR-181c hsa-miR-16-1* hsa-miR-628-3p hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidMAMDC2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAMDC2
    Predesigned siRNA for gene silencing in human, mouse, rat MAMDC2
    Clone
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    GenScript: all cDNA clones in your preferred vector: MAMDC2 (NM_153267)
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    OriGene qPCR primer pairs and template standards for MAMDC2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAMDC2
      QuantiTect SYBR Green Assays in human, mouse, rat MAMDC2
      QuantiFast Probe-based Assays in human, mouse, rat MAMDC2

    Additional mRNA sequence: 

    AK304040.1 AK304531.1 BC015417.2 BC016383.1 BC040299.1 BC045569.1 BC063634.1 BX538309.1 

    Selected DOTS entries (see all 29):

    DT.407827  DT.87000728  DT.95262453  DT.91779030  DT.100704948  DT.100059916  DT.101986946  DT.91656907 
    DT.120845959  DT.100704939  DT.75119856  DT.100704946  DT.121184404  DT.120845871  DT.300550  DT.120845851 
    DT.85105500  DT.100704936  DT.120844241  DT.121184394  DT.97868502  DT.100704943  DT.100704945  DT.101987569 

    Selected AceView cDNA sequences (see all 106):

    BF981324 BM729321 AI890418 AI754634 BC040299 AA451604 BX489352 BQ883306 
    NM_153267 BQ446119 BM802901 BC063634 BX952255 AI239735 AI141976 BX476668 
    BG422848 BC045569 AI862120 CD106817 BC016383 BQ438694 BX538309 BG546966 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MAMDC2    About this scheme

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


    ECgene alternative splicing isoforms for MAMDC2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MAMDC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATAGAAATT
    MAMDC2 Expression
    About this image


    MAMDC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
     
     Bone (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells
     
     Blood (Cardiovascular System)
             Hematopoietic Stem Cells Liver Bud
    MAMDC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAMDC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.547172
        Custom PCR Arrays for MAMDC2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAMDC2

    (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 chordates.

    Orthologs for MAMDC2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mamdc21 , 5 MAM domain containing 21, 5 86.78(n)1
    89.94(a)1
      19 (18.22 cM)5
    717381  NM_174857.31  NP_777282.11 
     233026095 
    chicken
    (Gallus gallus)
    Aves MAMDC21 MAM domain containing 2 76.27(n)
    76.77(a)
      427247  XM_003643015.2  XP_003643063.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAMDC26
    MAM domain containing 2
    15(a)
    1 ↔ 1
    GL344740.1(723-11959)
    African clawed frog
    (Xenopus laevis)
    Amphibia geneB-A-prov2 MAM domain protein 75.17(n)    U37376.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mamdc2a1 MAM domain containing 2a 60.71(n)
    56.49(a)
      556154  NM_001130397.1  NP_001123869.1 


    ENSEMBL Gene Tree for MAMDC2 (if available)
    TreeFam Gene Tree for MAMDC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAMDC2 gene
    MAMDC42  MDGA22  MDGA12  MALRD12  ENSG000002727812  
    1 SIMAP similar gene for MAMDC2 using alignment to 1 protein entry:     MAMC2_HUMAN:
    NRP1

    Find genes that share paralogs with MAMDC2           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 MAMDC2 (see all 2949)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs604453201,2
    C--42544954(+) GATGTCACA/-  
            
    CACAC
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs727091951,2
    C,F--72656649(+) TTAGGC/TGGTGA 1 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1835960201,2
    --72656787(+) GGTGAC/TTGAAG 1 -- us2k10--------
    rs761014241,2
    C--72656814(+) GTGGGG/TCTGGG 1 -- us2k10--------
    rs625726451,2
    F--72656842(+) GTAATC/AGCAGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1882476461,2
    --72656853(+) ACTTCA/GGGAGT 1 -- us2k10--------
    rs29976521,2
    C,F,H--72656879(+) catgaT/Ggtcaa 1 -- us2k19Minor allele frequency- G:0.39NA WA CSA EA 371
    rs1903550021,2
    --72656913(+) CATGGC/TGAAAC 1 -- us2k10--------
    rs1827307631,2
    --72656954(+) TGGGCA/GTGGTG 1 -- us2k10--------
    rs78673521,2
    H--72657144(+) ataggG/Ccctgg 1 -- us2k14Minor allele frequency- C:0.00NS EA 412

    HapMap Linkage Disequilibrium report for MAMDC2 (72658497 - 72841888 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for MAMDC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670457CNV Deletion23128226
    esv2738541CNV Deletion23290073
    esv2675457CNV Deletion23128226
    nsv6555CNV Insertion18451855
    nsv6553CNV Insertion18451855
    nsv824947CNV Loss20364138
    nsv824946CNV Loss20364138
    esv22588CNV Loss19812545
    nsv893438CNV Gain21882294
    nsv831613CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAMDC2
    DNA2.0 Custom Variant and Variant Library Synthesis for MAMDC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612879    OMIM disorders: --


    Find genes that share disorders with MAMDC2           About GenesLikeMe

    Genetic Association Database (GAD): MAMDC2
    Human Genome Epidemiology (HuGE) Navigator: MAMDC2 (1 document)

    Export disorders for MAMDC2 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 MAMDC2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with MAMDC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    5. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    6. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)1 Simpson J.C.... Wiemann S. (EMBO Rep. 2000)
    9. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (Genome Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 256691 HGNC: 23673 AceView: MAMDC2 Ensembl:ENSG00000165072 euGenes: HUgn256691
    ECgene: MAMDC2 H-InvDB: MAMDC2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MAMDC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAMDC2 gene:
    Search GeneIP for patents involving MAMDC2

    GeneCards and IP:
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