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    ADAM12 ADAM metallopeptidase domain 12 [ Homo sapiens (human) ]

    Gene ID: 8038, updated on 11-May-2017
    Official Symbol
    ADAM12provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 12provided by HGNC
    Primary source
    HGNC:HGNC:190
    See related
    Ensembl:ENSG00000148848 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; CAR10; MLTNA; MCMPMltna; ADAM12-OT1
    Summary
    This gene encodes a member of a family of proteins that are 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. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
    Orthologs
    Location:
    10q26.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (126012385..126388558, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127700960..128077127, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene fibronectin type III and ankyrin repeat domains 1 Neighboring gene FANK1 antisense RNA 1 Neighboring gene G protein subunit gamma 10 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 328 Neighboring gene secretion associated Ras related GTPase 1A pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 601 Neighboring gene hCG2044975 Neighboring gene chromosome 10 open reading frame 90

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Genome-wide association study of endometrial cancer in E2C2.
    NHGRI GWA Catalog
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ31066

    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 
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix organization 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 space IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 12
    Names
    meltrin-alpha
    metalloprotease-disintegrin 12 transmembrane

    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..381174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288973.1NP_001275902.1  disintegrin and metalloproteinase domain-containing protein 12 isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001275902.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (3, also known as ADAM12-La) is shorter than isoform 1.
      Source sequence(s)
      AC063963, AK055628, BX098286, KF444157
      UniProtKB/TrEMBL
      U5NE98
      Conserved Domains (5) summary
      smart00050
      Location:436504
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:507649
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:211411
      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. ...
      pfam01421
      Location:211413
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:60158
      Pep_M12B_propep; Reprolysin family propeptide
    2. NM_001288974.1NP_001275903.1  disintegrin and metalloproteinase domain-containing protein 12 isoform 4 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region, lacks multiple 3' coding exons, and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AY358878, BC060804, CB960379, DA863951, T91975
      UniProtKB/Swiss-Prot
      O43184
      Conserved Domains (5) summary
      smart00050
      Location:436504
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:507649
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:211411
      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. ...
      pfam01421
      Location:211413
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:60158
      Pep_M12B_propep; Reprolysin family propeptide
    3. NM_001288975.1NP_001275904.1  disintegrin and metalloproteinase domain-containing protein 12 isoform 5 preproprotein

      See identical proteins and their annotated locations for NP_001275904.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region, lacks multiple 3' coding exons, and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK291629, AY358878, BC060804, CB960379, DA863951, T91975
      UniProtKB/Swiss-Prot
      O43184
      UniProtKB/TrEMBL
      A8K6G4
      Conserved Domains (5) summary
      smart00050
      Location:436504
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:507649
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:211411
      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. ...
      pfam01421
      Location:211413
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:60158
      Pep_M12B_propep; Reprolysin family propeptide
    4. NM_003474.5NP_003465.3  disintegrin and metalloproteinase domain-containing protein 12 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_003465.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as ADAM12-Lb).
      Source sequence(s)
      AC063963, AF023476, AK055628, BC060804, BX098286, DA027173, DA863951, DR004947
      Consensus CDS
      CCDS7653.1
      UniProtKB/Swiss-Prot
      O43184
      Related
      ENSP00000357668.4, OTTHUMP00000020726, ENST00000368679.8, OTTHUMT00000050961
      Conserved Domains (5) summary
      smart00050
      Location:439507
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:510652
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:214414
      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. ...
      pfam01421
      Location:214416
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:60161
      Pep_M12B_propep; Reprolysin family propeptide
    5. NM_021641.4NP_067673.2  disintegrin and metalloproteinase domain-containing protein 12 isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_067673.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' coding exons and contains an alternate 3' terminal exon, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2, also known as ADAM12-S) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AF023476, AK291629, AY358878, BC060804, DA863951, DR004947, T91975
      Consensus CDS
      CCDS7654.1
      UniProtKB/Swiss-Prot
      O43184
      UniProtKB/TrEMBL
      A8K6G4
      Related
      ENSP00000357665.4, OTTHUMP00000020727, ENST00000368676.8, OTTHUMT00000050962
      Conserved Domains (5) summary
      smart00050
      Location:439507
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:510652
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:214414
      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. ...
      pfam01421
      Location:214416
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:60161
      Pep_M12B_propep; Reprolysin family propeptide

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      126012385..126388558 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016705.1XP_016872194.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X1

    2. XM_017016706.1XP_016872195.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      127982765..128358883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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