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

    Gene ID: 8038, updated on 5-Mar-2024

    Summary

    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; AllianceGenome:HGNC:190
    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]
    Expression
    Biased expression in placenta (RPKM 63.0), gall bladder (RPKM 5.5) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ADAM12 in Genome Data Viewer
    Location:
    10q26.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (126012391..126388477, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (126894888..127270982, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (127700960..128077046, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene fibronectin type III and ankyrin repeat domains 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2929 Neighboring gene FANK1 antisense RNA 1 Neighboring gene G protein subunit gamma 10 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127731483-127732140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127737867-127738367 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:127763214-127764413 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:127823747-127824946 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:127836493-127836992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127845814-127846314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127846315-127846815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127850913-127851413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:127863169-127863692 Neighboring gene RNA, 5S ribosomal pseudogene 328 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:127889000-127889180 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:127935743-127936942 Neighboring gene secretion associated Ras related GTPase 1A pseudogene 2 Neighboring gene uncharacterized LOC112267914 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:128113684-128114883 Neighboring gene long intergenic non-protein coding RNA 601 Neighboring gene uncharacterized LOC728158 Neighboring gene chromosome 10 open reading frame 90

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study of endometrial cancer in E2C2.
    EBI GWAS Catalog
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ31066

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myoblast fusion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 12
    Names
    meltrin-alpha
    metalloprotease-disintegrin 12 transmembrane

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5082..381168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288973.2NP_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, KF444157
      Consensus CDS
      CCDS91373.1
      UniProtKB/TrEMBL
      Q5JRP2, U5NE98
      Related
      ENSP00000391268.2, ENST00000448723.2
      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_001288974.2NP_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, T91975
      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
    3. NM_001288975.2NP_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/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_003474.6NP_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, DA027173, DR004947
      Consensus CDS
      CCDS7653.1
      UniProtKB/Swiss-Prot
      O43184, O60470, Q5JRP0, Q5JRP1, Q6P9E3, Q6UWB0
      Related
      ENSP00000357668.4, ENST00000368679.8
      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_021641.5NP_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, DR004947, T91975
      Consensus CDS
      CCDS7654.1
      UniProtKB/TrEMBL
      A8K6G4
      Related
      ENSP00000357665.4, ENST00000368676.8
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      126012391..126388477 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016706.2XP_016872195.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X1

    2. XM_024448210.1XP_024303978.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X2

      Conserved Domains (3) summary
      smart00050
      Location:261
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:64206
      ACR; ADAM Cysteine-Rich Domain
      cl26464
      Location:308459
      Atrophin-1; Atrophin-1 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      126894888..127270982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366836.1XP_054222811.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X3

    2. XM_054366837.1XP_054222812.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X1

    3. XM_054366838.1XP_054222813.1  disintegrin and metalloproteinase domain-containing protein 12 isoform X2