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    ADAM8 ADAM metallopeptidase domain 8 [ Homo sapiens (human) ]

    Gene ID: 101, updated on 3-Dec-2024

    Summary

    Official Symbol
    ADAM8provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 8provided by HGNC
    Primary source
    HGNC:HGNC:215
    See related
    Ensembl:ENSG00000151651 MIM:602267; AllianceGenome:HGNC:215
    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
    MS2; CD156; CD156a
    Summary
    This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) 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. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]
    Expression
    Biased expression in bone marrow (RPKM 22.3), spleen (RPKM 13.4) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADAM8 in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133262423..133276868, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134218053..134232489, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (135075927..135090372, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135050938-135051542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135051543-135052146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135056640-135057492 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:135057814-135059013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135060766-135061280 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135061797-135062311 Neighboring gene VENT homeobox Neighboring gene MIR202 host gene Neighboring gene microRNA 202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2971 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135075828-135076804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135084013-135084769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:135087865-135088514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135089815-135090462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4242 Neighboring gene tubulin gamma complex component 2 Neighboring gene uncharacterized LOC124902562 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:135106330-135107529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4243 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:135122506-135123201 Neighboring gene ZNF511-PRAP1 readthrough Neighboring gene zinc finger protein 511

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC134985

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cell adhesion molecule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables immunoglobulin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables tumor necrosis factor receptor superfamily binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in canonical NF-kappaB signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leukocyte migration involved in inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lymphocyte chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of acute inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of bone resorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cellular extravasation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of eosinophil migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of fibronectin-dependent thymocyte migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of membrane protein ectodomain proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neutrophil extravasation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein processing NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of protein secretion IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of thymocyte apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of tumor necrosis factor (ligand) superfamily member 11 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal release IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of alpha9-beta1 integrin-ADAM8 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dense core granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in phagolysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in podosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in specific granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in tertiary granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 8
    Names
    a disintegrin and metalloproteinase domain 8
    cell surface antigen MS2
    human leukocyte differentiation antigen
    NP_001100.3
    NP_001157961.1
    NP_001157962.1
    XP_047280379.1
    XP_047280380.1
    XP_047280381.1
    XP_047280382.1
    XP_054220443.1
    XP_054220444.1
    XP_054220445.1
    XP_054220446.1

    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.

    mRNA and Protein(s)

    1. NM_001109.5NP_001100.3  disintegrin and metalloproteinase domain-containing protein 8 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001100.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK312834, AL592071, BQ007791, DA936506, DC408787
      Consensus CDS
      CCDS31319.2
      UniProtKB/Swiss-Prot
      B4DVM6, H0YL36, H0YLR0, H0YN39, P78325
      UniProtKB/TrEMBL
      Q14C66
      Related
      ENSP00000453302.1, ENST00000445355.8
      Conserved Domains (5) summary
      smart00050
      Location:417491
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:494605
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:200398
      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:200400
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:43154
      Pep_M12B_propep; Reprolysin family propeptide
    2. NM_001164489.2NP_001157961.1  disintegrin and metalloproteinase domain-containing protein 8 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site, which causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL592071, BC064500, BQ007791, DA936506, DC401057, DC408787
      Consensus CDS
      CCDS58103.1
      UniProtKB/Swiss-Prot
      P78325
      Related
      ENSP00000453855.1, ENST00000415217.7
      Conserved Domains (5) summary
      smart00050
      Location:417491
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:494605
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:200398
      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:200400
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:43154
      Pep_M12B_propep; Reprolysin family propeptide
    3. NM_001164490.2NP_001157962.1  disintegrin and metalloproteinase domain-containing protein 8 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks three alternate exons and uses an alternate splice site in the coding region, which results in a frameshifted segment, compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter than isoform 1.
      Source sequence(s)
      AK301147, AL592071, BI908229, BQ007791, DA936506, DC408787
      Consensus CDS
      CCDS58102.1
      UniProtKB/TrEMBL
      Q14C66
      Related
      ENSP00000453043.1, ENST00000485491.6
      Conserved Domains (4) summary
      smart00050
      Location:378452
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:455562
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:161359
      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:161361
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      133262423..133276868 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424426.1XP_047280382.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      Q14C66
    2. XM_047424425.1XP_047280381.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X3

      UniProtKB/TrEMBL
      Q14C66
    3. XM_047424424.1XP_047280380.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X2

      UniProtKB/TrEMBL
      Q14C66
    4. XM_047424423.1XP_047280379.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      Q14C66

    RNA

    1. XR_007061938.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      134218053..134232489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364471.1XP_054220446.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X4

      UniProtKB/TrEMBL
      Q14C66
    2. XM_054364470.1XP_054220445.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X3

      UniProtKB/TrEMBL
      Q14C66
    3. XM_054364469.1XP_054220444.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X2

      UniProtKB/TrEMBL
      Q14C66
    4. XM_054364468.1XP_054220443.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X1

      UniProtKB/TrEMBL
      Q14C66

    RNA

    1. XR_008488152.1 RNA Sequence