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

ADAM12 Gene

protein-coding   GIFtS: 72
GCID: GC10M127693

ADAM Metallopeptidase Domain 12

(Previous name: a disintegrin and metalloproteinase domain 12 (meltrin alpha))
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(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
ADAM Metallopeptidase Domain 121 2     Disintegrin And Metalloproteinase Domain-Containing Protein 122
MLTN2 3 5     meltrin-alpha2
A Disintegrin And Metalloproteinase Domain 12 (Meltrin Alpha)1     EC 3.4.24.-3
Meltrin Alpha1     Meltrin-alpha3
MCMP2     ADAM 123
MCMPMltna2     EC 3.4.248
MLTNA2     EC 3.4.24.588

External Ids:    HGNC: 1901   Entrez Gene: 80382   Ensembl: ENSG000001488487   OMIM: 6027145   UniProtKB: O431843   

Export aliases for ADAM12 gene to outside databases

Previous GC identifers: GC10M126678 GC10M126907 GC10M127744 GC10M127278 GC10M121392


(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 ADAM12 Gene:
This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family
are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a
variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle
development, and neurogenesis. This gene has two alternatively spliced transcripts: a shorter secreted form and a
longer membrane-bound form. The shorter form is found to stimulate myogenesis. (provided by RefSeq, Jul 2008)

GeneCards Summary for ADAM12 Gene: 
ADAM12 (ADAM metallopeptidase domain 12) is a protein-coding gene. Diseases associated with ADAM12 include skeletal muscle regeneration, and edwards syndrome, and among its related super-pathways are Signaling by FGFR and Development Alpha-2 adrenergic receptor activation of ERK. GO annotations related to this gene include metallopeptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAM7.

UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184
Function: Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in
macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity)

Gene Wiki entry for ADAM12 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_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADAM12 gene promoter:
         POU2F1   Pbx1a   POU2F1a   MyoD   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAM12 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADAM12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAM12


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

Entrez Gene cytogenetic band: 10q26.3   Ensembl cytogenetic band:  10q26.2   HGNC cytogenetic band: 10q26

ADAM12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAM12 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M127693:  view genomic region     (about GC identifiers)

Start:
127,700,950 bp from pter      End:
128,077,127 bp from pter
Size:
376,178 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: ADA12_HUMAN, O43184 (See protein sequence)
Recommended Name: Disintegrin and metalloproteinase domain-containing protein 12 precursor  
Size: 909 amino acids; 99542 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Interacts with alpha-actinin-2 and with syndecans (By similarity). Interacts with SH3PXD2A. Interacts
with FST3. Interacts with GNB2L1/RACK1; the interaction is required for PKC-dependent translocation of ADAM12 to
the cell membrane
Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform 2: Secreted
Subcellular location: Isoform 3: Secreted (Potential)
Subcellular location: Isoform 4: Secreted (Potential)
Secondary accessions: O60470 Q5JRP0 Q5JRP1 Q6P9E3 Q6UWB0
Alternative splicing: 4 isoforms:  O43184-1   O43184-2   O43184-3   O43184-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADAM12: NX_O43184

Explore proteomics data for ADAM12 at MOPED 

Post-translational modifications:

  • UniProtKB: The precursor is cleaved by a furin endopeptidase (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43184

  • 3 DME Specific Peptides for ADAM12 (O43184)
     CCNATTC  GEECDCG  EEGEECDCG 

    ADAM12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ADAM12 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003465.3  NP_067673.2  

    ENSEMBL proteins: 
     ENSP00000357668   ENSP00000357665   ENSP00000391268  
    Reactome Protein details: O43184
    Human Recombinant Protein Products for ADAM12: 
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    Novus Biologicals ADAM12 Lysates
    Sino Biological Recombinant Protein for ADAM12
    Sino Biological Cell Lysate for ADAM12 
    ProSpec Recombinant Protein for ADAM12
    Cloud-Clone Corp. Proteins for ADAM12 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005886plasma membrane IDA--

    ADAM12 for ontologies           About GeneDecksing



    ADAM12 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ADAM: ADAM metallopeptidase domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: ADAM12 
    ADAM

    5/7 InterPro protein domains (see all 7):
     IPR018358 Disintegrin_CS
     IPR024079 MetalloPept_cat_dom
     IPR001762 Blood-coag_inhib_Disintegrin
     IPR006586 ADAM_Cys-rich
     IPR000742 EG-like_dom

    Graphical View of Domain Structure for InterPro Entry O43184

    ProtoNet protein and cluster: O43184

    3 Blocks protein domains:
    IPB001762 Disintegrin
    IPB002870 Metalloendopeptidase M12B
    IPB006586 ADAM


    UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184
    Domain: The cysteine-rich domain supports cell adhesion through syndecans and triggers signaling events that lead
    to beta-1 integrin-dependent cell spreading. In carcinomas cells the binding of this domain to syndecans does not
    allow the integrin-mediated cell spreading
    Domain: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting
    the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the
    enzyme
    Similarity: Contains 1 disintegrin domain
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 peptidase M12B domain


    ADAM12 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: ADA12_HUMAN, O43184
    Function: Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in
    macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity)

         Genatlas biochemistry entry for ADAM12:
    a disintegrin and metalloprotease (active) domain 12,membrane anchored cell surface protein,with two alternatively
    spliced isoforms L and S,expressed in term placenta,in adult skeletal,cardiac,smooth muscle,bone,required for
    myotube formation and in osteoblast differentiation,involved in tumor cell adhesion

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.24.582 EC 3.4.242

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding IPI15574124
    GO:0008237metallopeptidase activity TAS9417060
    GO:0008270zinc ion binding IEA--
    GO:0017124SH3 domain binding IPI15280379
         
    ADAM12 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Adam12):
     adipose tissue  cardiovascular system  mortality/aging  muscle  vision/eye 

    ADAM12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Adam12tm1Asf for ADAM12

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ADAM12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ADAM12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADAM12 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADAM12 

    miRNA
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    8/84 QIAGEN miScript miRNA Assays for microRNAs that regulate ADAM12 (see all 84):
    hsa-miR-3607-3p hsa-miR-3653 hsa-miR-30d hsa-miR-759 hsa-miR-30a hsa-miR-3116 hsa-miR-4293 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidADAM12 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAM12


    (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 ADAM12 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by FGFR
    Signaling by EGFR0.84
    Signaling by EGFR in Cancer0.83
    2Development Dopamine D2 receptor transactivation of EGFR
    Development Dopamine D2 receptor transactivation of EGFR0.66
    Development Alpha-2 adrenergic receptor activation of ERK0.66
    3Development Angiotensin activation of ERK
    Development Angiotensin activation of ERK0.74
    4Matrix Metalloproteinases
    Inhibition of Matrix Metalloproteinases0.68
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for ADAM12
        Development Alpha-2 adrenergic receptor activation of ERK
    Development Angiotensin activation of ERK
    Development Dopamine D2 receptor transactivation of EGFR
    Metalloproteases in connective tissue degradation

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ADAM12
        Inhibition of Matrix Metalloproteinases

    3 GeneGo (Thomson Reuters) Pathways for ADAM12
        Development Angiotensin activation of ERK
    Development Dopamine D2 receptor transactivation of EGFR
    Development Alpha-2 adrenergic receptor activation of ERK

    2 BioSystems Pathways for ADAM12
        Syndecan-4-mediated signaling events
    Notch signaling pathway

    1 Sino Biological Pathway for ADAM12 
        Notch Signaling Pathway

    4        Reactome Pathways for ADAM12
        Signal Transduction
    Signaling by EGFR in Cancer
    Signaling by EGFR
    Disease



    ADAM12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ADAM12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/21 Interacting proteins for ADAM12 (O431841, 2, 3 ENSP000003576684) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3D19Q5HYK72, 3, ENSP000003029134MINT-56613 MINT-56611 MINT-56614 MINT-56612 I2D: score=2 STRING: ENSP00000302913
    FSTL3O956331, 3, ENSP000001661394EBI-2625865,EBI-2625790 I2D: score=1 STRING: ENSP00000166139
    ACTN2P356093, ENSP000003555374I2D: score=2 STRING: ENSP00000355537
    IGFBP5P245933, ENSP000002338134I2D: score=2 STRING: ENSP00000233813
    PIK3R1P279863, ENSP000002743354I2D: score=2 STRING: ENSP00000274335
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0007155cell adhesion IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007520myoblast fusion TAS7566181

    ADAM12 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

    ADAM12 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ADAM12 (ADA12)

    1 Novoseek inferred chemical compound relationship for ADAM12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ly294002 19.5 2 16139919 (1), 12717386 (1)

    Search CenterWatch for drugs/clinical trials and news about ADAM12 / ADA12

    (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 ADAM12 gene (2 alternative transcripts): 
    NM_003474.4  NM_021641.3  

    Unigene Cluster for ADAM12:

    ADAM metallopeptidase domain 12
    Hs.594351  [show with all ESTs]
    Unigene Representative Sequence: NM_003474
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368679(uc001ljk.2 uc010qul.1) ENST00000368676(uc001ljm.3 uc001ljn.3 uc001ljl.4)
    ENST00000467145 ENST00000482291 ENST00000485388 ENST00000448723 ENST00000494661


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    hsa-miR-3607-3p hsa-miR-3653 hsa-miR-30d hsa-miR-759 hsa-miR-30a hsa-miR-3116 hsa-miR-4293 hsa-miR-3148
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    Additional mRNA sequence: 

    AF023476.2 AF023477.2 AK022196.1 AK055628.1 AK127856.1 AK291629.1 AY358878.1 BC060804.1 

    24/55 DOTS entries (see all 55):

    DT.95357317  DT.100761106  DT.100797831  DT.121223074  DT.95357338  DT.86853140  DT.92459374  DT.99980124 
    DT.95357321  DT.91701420  DT.95320779  DT.92459370  DT.95357332  DT.100797829  DT.95090158  DT.91682841 
    DT.97811007  DT.121223228  DT.121223692  DT.100797826  DT.121223583  DT.121223209  DT.92459375  DT.100797827 

    24/518 AceView cDNA sequences (see all 518):

    BQ575823 AU139012 CR616307 BU622804 BG620679 H02608 CR611911 AA411621 
    CA448457 AU137809 AL603111 AU139359 CA417052 AI753141 BX395958 H12677 
    AU140094 AU138290 AI371787 AA367725 AU138056 AU139173 CR596848 AI188560 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ADAM12    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
    SP1:                                                                                                                    -                                 
    SP2:                          -                                                                                                                           
    SP3:                          -                                                                                                                           
    SP4:                                                                                                                                                      


    ECgene alternative splicing isoforms for ADAM12

    (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

    ADAM12 expression in normal human tissues (normalized intensities)      ADAM12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGCCCTTC
    ADAM12 Expression
    About this image


    ADAM12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/22 selected tissues (see all 22) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 21 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
             cavities and their linings/intraembryonic coelom/diaphragm   
     
     Somite (Muscoskeletal System)    fully expand to see all 17 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
             skeleton/axial skeleton   
     
     Limb (Muscoskeletal System)    fully expand to see all 9 entries
             Mesenchymal Condensate Cells Zeugopod
             Autopod
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Mesenchymal Condensate Cells Zeugopod
             Thoracic Rib
             skeleton/cranium/viscerocranium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             skeleton/cranium/viscerocranium   

    See ADAM12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADAM12

    SOURCE GeneReport for Unigene cluster: Hs.594351

    UniProtKB/Swiss-Prot: ADA12_HUMAN, O43184
    Tissue specificity: Isoform 1 is expressed in placenta and skeletal, cardiac, and smooth muscle. Isoform 2 seems
    to be expressed only in placenta or in embryo and fetus. Both forms were expressed in some tumor cells lines. Not
    detected in brain, lung, liver, kidney or pancreas

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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 ADAM12 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adam121 , 5 a disintegrin and metallopeptidase domain 12 (meltrin more1, 5 83.26(n)1
    81.89(a)1
      7 (77.61 cM)5
    114891  NM_007400.21  NP_031426.21 
     1338831995 
    chicken
    (Gallus gallus)
    Aves ADAM121 ADAM metallopeptidase domain 12 72.45(n)
    72.82(a)
      425843  NM_001142850.1  NP_001136322.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADAM126
    ADAM metallopeptidase domain 12
    64(a)
    1 ↔ 1
    3(63189426-63528796)
    zebrafish
    (Danio rerio)
    Actinopterygii adam121 a disintegrin and metalloproteinase domain 12 (meltrin more 67.19(n)
    67.72(a)
      563275  XM_686639.5  XP_691731.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta mmd3
    Neu31
    metalloendopeptidase3
    CG7649-PC1
    35(a)3
    45.36(n)1
    36.44(a)1
      37721091  NM_001032403.11  NP_001027575.11 
    worm
    (Caenorhabditis elegans)
    Secernentea adm-13
    adm-21
    Disintegrin3
    Protein ADM-21
    31(a)3
    46.28(n)1
    32.99(a)1
      III(12952834-12963248)3
    1814891  NM_077890.21  NP_510291.11 


    ENSEMBL Gene Tree for ADAM12 (if available)
    TreeFam Gene Tree for ADAM12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADAM12 gene
    ADAM72  ADAM322  ADAM192  ADAM182  ADAM332  ADAM302  ADAM22  ADAM282  
    ADAM292  ADAM202  ADAM212  ADAM92  ADAM152  ADAM82  
    17 SIMAP similar genes for ADAM12 using alignment to 2 protein entries:     ADA12_HUMAN (see all proteins):
    ADAM9    ADAM19    ADAMDEC1    ADAM7    ADAM33    ADAM21
    ADAM23    ADAM28    ADAM11    ADAM15    ADAM20    ADAM22
    ADAM8    ADAM2    ADAM18    ADAM29    ADAM30

    ADAM12 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8801 SNPs in ADAM12 are shown (see all 8801)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361444
    A breast cancer sample4--see VAR_0361442 G E mis40--------
    VAR_0663104
    A cutaneous metastatic melanoma sample4--see VAR_0663102 G E mis40--------
    VAR_0361454
    A breast cancer sample4--see VAR_0361452 L F mis40--------
    VAR_0361434
    A breast cancer sample4--see VAR_0361432 D H mis40--------
    VAR_0663114
    A cutaneous metastatic melanoma sample4--see VAR_0663112 P S mis40--------
    rs286537281,2
    C--121429307(+) ATCCAG/TCCATC 2 -- int10--------
    rs2000317971,2
    C--121458307(-) GTTTTG/TTTTTT 2 -- int10--------
    rs339135101,2
    C--121463954(+) TCAGC-/TTCAAA 2 -- int10--------
    rs1840129331,2
    --121490640(+) CTCCGC/TCTCAA 2 -- int10--------
    rs772431251,2
    C--121494853(+) AATGTC/TTACCA 2 -- int10--------

    HapMap Linkage Disequilibrium report for ADAM12 (127700950 - 127950950 bp, first 250kb of ADAM12)

    Structural Variations
         Database of Genomic Variants (DGV) 10/28 variations for ADAM12 (see all 28):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv3244CNV Deletion18987735
    esv2493187CNV Deletion19546169
    esv2743006CNV Deletion23290073
    esv2658457CNV Deletion23128226
    esv2743017CNV Deletion23290073
    esv2665460CNV Deletion23128226
    esv2286058CNV Deletion18987734
    esv1001364CNV Deletion20482838
    esv2743029CNV Deletion23290073
    esv2743040CNV Deletion23290073


    Human Gene Mutation Database (HGMD): ADAM12
    1 SABiosciences Cancer Mutation PCR Assay for ADAM12:
    Cosmic IdAA Change
    22798p.L792F
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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: 602714    OMIM disorders: --

    20/30 diseases for ADAM12 (see all 30):    About MalaCards
    skeletal muscle regeneration    edwards syndrome    giant cell tumor    ectopic pregnancy
    osteoarthritis    wegener's granulomatosis    down syndrome    keloids
    laryngeal carcinoma    pre-eclampsia    eclampsia    non-small cell lung carcinoma
    dilated cardiomyopathy    laryngitis    basal cell carcinoma    rhabdomyosarcoma
    muscular dystrophy    gastric cancer    lung adenocarcinoma    alzheimer's disease

    2 diseases from the University of Copenhagen DISEASES database for ADAM12:
    pre-eclampsia     Down syndrome

    ADAM12 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/15 Novoseek inferred disease relationships for ADAM12 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 50.4 20 19285649 (4), 14691998 (4), 20509157 (4), 18785180 (3) (see all 7)
    preeclampsia 41.4 10 15994630 (5), 18978109 (4)
    osteoarthritis knee 40.2 1 19268722 (1)
    giant cell tumors 34.3 5 11769731 (4), 16251041 (1)
    osteoarthritis 31.7 2 19601832 (1), 19268722 (1)
    trisomy 24.7 11 17701664 (5), 19285649 (2)
    tumors 21.4 32 15930294 (5), 17189408 (3), 11769731 (3), 16061220 (2) (see all 15)
    rhabdomyosarcoma 18.4 2 15364951 (1), 15574885 (1)
    chromosomal aberrations 7.78 6 17278174 (2), 19285649 (2), 17701664 (1)
    cancer 7.6 13 18342566 (1), 19473694 (1), 19544357 (1), 19601832 (1) (see all 11)

    Genetic Association Database (GAD): ADAM12
    Human Genome Epidemiology (HuGE) Navigator: ADAM12 (9 documents)

    Export disorders for ADAM12 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 ADAM12 gene, integrated from 9 sources (see all 178):
    (articles sorted by number of sources associating them with ADAM12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel, secreted form of human ADAM 12 (meltrin alpha) provokes myogenesis in vivo. (PubMed id 9417060)1, 2, 3, 9 Gilpin B.J....Wewer U.M. (1998)
    2. RACK1, a new ADAM12 interacting protein. Contribution to liver fibrogenesis. (PubMed id 18621736)1, 2, 9 Bourd-Boittin K....Theret N. (2008)
    3. Cellular roles of ADAM12 in health and disease. (PubMed id 18342566)1, 3, 9 Kveiborg M....Wewer U.M. (2008)
    4. Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease. (PubMed id 17440933)1, 4, 9 Harold D....Williams J. (2007)
    5. A study of the association between the ADAM12 and SH3 PXD2A (SH3MD1) genes and Alzheimer's disease. (PubMed id 19837132)1, 4, 9 Laumet G....Lambert J.C. (2010)
    6. Missense single nucleotide polymorphism of the ADAM12 gene is associated with radiographic knee osteoarthritis in middle-aged Estonian cohort. (PubMed id 19268722)1, 4, 9 Kerna I....Tamm A.O. (2009)
    7. Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. (PubMed id 16453284)1, 4, 9 Valdes A.M....Spector T.D. (2006)
    8. Human ADAM 12 (meltrin alpha) is an active metalloprotease. (PubMed id 9642263)1, 2, 9 Loechel F.... Wewer U.M. (1998)
    9. The adaptor protein fish associates with members of the ADAMs family and localizes to podosomes of Src-transformed cells. (PubMed id 12615925)1, 2, 9 Abram C.L....Courtneidge S.A. (2003)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)

    (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: 8038 HGNC: 190 AceView: ADAM12 Ensembl:ENSG00000148848 euGenes: HUgn8038
    ECgene: ADAM12 H-InvDB: ADAM12

    (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 ADAM12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ADAM12 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ADAM12 gene:
    Search GeneIP for patents involving ADAM12

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



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    About This Section

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