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    ADAM12 ADAM metallopeptidase domain 12 [ Homo sapiens ]

    Gene ID: 8038, updated on 20-May-2012
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    Summary

    Official Symbol
    ADAM12provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 12provided by HGNC
    Primary source
    HGNC:190
    Locus tag
    RP11-295J3.5
    See related
    Ensembl:ENSG00000148848; HPRD:04092; MIM:602714; Vega:OTTHUMG00000019243
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCMP; MLTN; MLTNA; MCMPMltna
    Summary
    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]
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    Genomic context

    Location :
    10q26.3
    Sequence :
    Chromosome: 10; NC_000010.10 (127702898..128077127, complement)
    See ADAM12 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene BRCA2 and CDKN1A interacting protein Neighboring gene DEAH (Asp-Glu-Ala-His) box polypeptide 32 Neighboring gene guanine nucleotide binding protein (G protein), gamma 10 pseudogene Neighboring gene fibronectin type III and ankyrin repeat domains 1 Neighboring gene SAR1 homolog A (S. cerevisiae) pseudogene 2 Neighboring gene chromosome 10 open reading frame 90 Neighboring gene uncharacterized LOC728065

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Constitutive coupling of a naturally occurring human alpha1a-adrenergic receptor genetic variant to EGFR transactivation pathway. Oganesian A, et al. Proc Natl Acad Sci U S A, 2011 Dec 6. PMID 22089237.
    2. The secretion of PAPP-A, ADAM12, and PP13 correlates with the size of the placenta for the first month of pregnancy. Sahraravand M, et al. Placenta, 2011 Dec. PMID 22015022.
    3. Novel surface targets and serum biomarkers from the ovarian cancer vasculature. Sasaroli D, et al. Cancer Biol Ther, 2011 Aug 1. PMID 21617380.
    4. Metalloprotease-disintegrin ADAM12 expression is regulated by Notch signaling via microRNA-29. Li H, et al. J Biol Chem, 2011 Jun 17. PMID 21518768.
    5. Increased expression of ADAM12 and ADAM17 genes in laser-capture microdissected breast cancers and correlations with clinical and pathological characteristics. Narita D, et al. Acta Histochem, 2012 Feb. PMID 21501859.

    See all (91) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Significantly elevated amounts of ADAM12L, ADAM12S and ADAM17 transcripts were found in malignant breast cells compared with normal breast tissue.
      Title: Increased expression of ADAM12 and ADAM17 genes in laser-capture microdissected breast cancers and correlations with clinical and pathological characteristics.
    2. Data show that elevated levels of matrix metalloproteinase-7 (MMP7) and a disintegrin and metalloproteinase-12 (ADAM12) in alpha(1a)-247R-expressing cells are responsible for EGF receptor (EGFR) transactivation.
      Title: Constitutive coupling of a naturally occurring human alpha1a-adrenergic receptor genetic variant to EGFR transactivation pathway.
    3. secretion of PAPP-A, ADAM12 and PP13 is closely related to the size of the placenta in the beginning of pregnancy. After 8 weeks of pregnancy, which is the time for luteoplacental shift, the correlation disappears.
      Title: The secretion of PAPP-A, ADAM12, and PP13 correlates with the size of the placenta for the first month of pregnancy.
    4. ADAM12 is selectively expressed in ovarian tumor vasculature
      Title: Novel surface targets and serum biomarkers from the ovarian cancer vasculature.
    5. This study confers further evidence regarding the role of ADAM12 and 17 in the breast tumorigenesis and progression.
      Title: ADAM12 and ADAM17 gene expression in laser-capture microdissected and non-microdissected breast tumors.
    6. Notch up-regulates the expression of the long form, but not the short form, of ADAM12 containing a divergent 3'-untranslated mRNA region
      Title: Metalloprotease-disintegrin ADAM12 expression is regulated by Notch signaling via microRNA-29.
    7. ADAM12 overexpression results in increased tumor take, tumor size, and metastasis in vivo. These findings suggest that ADAM12 may represent a potential therapeutic target in breast cancer.
      Title: ADAM12 transmembrane and secreted isoforms promote breast tumor growth: a distinct role for ADAM12-S protein in tumor metastasis.
    8. The different localisation of ADAM12-S and ADAM12-L indicates a possible different role making ADAM12-L a candidate for the fusion event, while the syncytial localisation of the ADAM12-S makes it a candidate for cell-cell and cell-matrix interactions.
      Title: Complex patterns of ADAM12 mRNA and protein splice variants in the human placenta.
    9. ADAM metalloproteinase 12 is a promising marker for the diagnosis of ectopic pregnancy with symptoms in the first trimester.
      Title: A disintegrin and metalloprotease protein-12 as a novel marker for the diagnosis of ectopic pregnancy.
    10. Spliced variants ADAM12L and 12S expression were significantly up-regulated in breast cancers, while in the normal breast, we found a very low expression.
      Title: Molecular profiling of ADAM12 gene in breast cancers.
    Submit: New GeneRIF Correction See all (67)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O43184 P35609 ACTN2    HPRD  PubMed  
    O43184 P01133 EGF    HPRD  PubMed  
    O43184 O95633 FSTL3    HPRD  PubMed  
    O43184 P62993 GRB2    HPRD  PubMed  
    O43184 P17936 IGFBP3    HPRD  PubMed  
    O43184 P24593 IGFBP5    HPRD  PubMed  
    O43184 Q9UKS6 PACSIN3    HPRD  PubMed  
    O43184 P27986 PIK3R1    HPRD  PubMed  
    O43184 SH3 domain protein D19 SH3D19    HPRD  PubMed  
    O43184 P12931 SRC    HPRD  PubMed  
    O43184 P07947 YES1    HPRD  PubMed  
    BioGRID:113731 BioGRID:106603 ACTN2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:113731 BioGRID:109707 IGFBP3    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Two-hybrid 
    BioGRID:113731 BioGRID:109709 IGFBP5    BioGRID  PubMed Biochemical Activity 
    BioGRID:113731 BioGRID:111313 PIK3R1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    XP_098238.8 SH3D19    BIND  PubMed ADAM12 interacts with Eve-1d. 
    XP_098238.8 SH3D19    BIND  PubMed ADAM12 interacts with Eve-1c. 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Notch signaling pathway, organism-specific biosystem
      Notch signaling pathway
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by EGFR in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by EGFR in Cancer, organism-specific biosystemThe pathway "Signaling by EGFR in Cancer" shows "Signaling by constitutively active EGFR" in parallel with "Signaling by EGFR". This allows users to compare signaling by constitutively active EGFR ca...
    • Syndecan-4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-4-mediated signaling events, organism-specific biosystem
      Syndecan-4-mediated signaling events

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    myoblast fusion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 12
    Names
    disintegrin and metalloproteinase domain-containing protein 12
    meltrin-alpha
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029050.1 RefSeqGene

      Range
      5001..379230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003474.4 → NP_003465.3  disintegrin and metalloproteinase domain-containing protein 12 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC063963, AF023476, BC060804, DA027173, DA863951, DR004947
      Consensus CDS
      CCDS7653.1
      UniProtKB/Swiss-Prot
      O43184
      Related
      ENSP00000357668, OTTHUMP00000020726, ENST00000368679, OTTHUMT00000050961
      Conserved Domains (4) summary
      cd04269
      Location:214 – 414
      Blast Score: 690
      ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
      pfam01562
      Location:41 – 163
      Blast Score: 343
      Pep_M12B_propep; Reprolysin family propeptide
      cl10507
      Location:448 – 508
      Blast Score: 279
      Disintegrin; Disintegrin
      cl15456
      Location:510 – 652
      Blast Score: 452
      ADAM_CR; ADAM cysteine-rich

    2. NM_021641.3 → NP_067673.2  disintegrin and metalloproteinase domain-containing protein 12 isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 3' coding region and 3'UTR, compared to variant 1. Variant 2 encodes isoform 2 which has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AF023476, AK291629, AY358878, BC060804, DA863951, DR004947
      Consensus CDS
      CCDS7654.1
      UniProtKB/TrEMBL
      A8K6G4
      UniProtKB/Swiss-Prot
      O43184
      Related
      ENSP00000357665, OTTHUMP00000020727, ENST00000368676, OTTHUMT00000050962
      Conserved Domains (4) summary
      cd04269
      Location:214 – 414
      Blast Score: 677
      ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
      pfam01562
      Location:41 – 163
      Blast Score: 343
      Pep_M12B_propep; Reprolysin family propeptide
      cl10507
      Location:448 – 508
      Blast Score: 274
      Disintegrin; Disintegrin
      cl15456
      Location:510 – 652
      Blast Score: 443
      ADAM_CR; ADAM cysteine-rich

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      127702898..128077127, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      121392073..121764737, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC022015.6 (29309..135197) None
    genomic AC026226.9 (2000..158555) None
    genomic AC063963.11 (95299..179103) None
    genomic AL589787.16 CAI40681.1
      CAI40682.1
      CAI40683.1
    genomic AL691463.2 (2000..12678) None
    genomic CH471066.2 EAW49205.1
      EAW49206.1
      EAW49207.1
      EAW49208.1
      EAW49209.1
    genomic HC006764.1 CBH19188.1
    mRNA AF023476.2 AAC08702.2
    mRNA AF023477.2 AAC08703.2
    mRNA AK127856.1 None
    mRNA AK291629.1 BAF84318.1
    mRNA AY358878.1 AAQ89237.1
    mRNA BC060804.1 AAH60804.1
    mRNA CB960379.1 None
    mRNA DA027173.1 None
    mRNA DA863951.1 None
    mRNA DR004947.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43184.3 GenPept UniProtKB/Swiss-Prot:O43184
    Q5JRP2 GenPept UniProtKB/TrEMBL:Q5JRP2
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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