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

Gene ID: 101, updated on 7-Dec-2018

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
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

Genomic context

See ADAM8 in Genome Data Viewer
Location:
10q26.3
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (133262416..133276903, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (135075920..135090489, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene VENT homeobox Neighboring gene MIR202 host gene Neighboring gene microRNA 202 Neighboring gene tubulin gamma complex associated protein 2 Neighboring gene Sharpr-MPRA regulatory region 2011 Neighboring gene zinc finger protein 511 Neighboring gene calcyon neuron specific vesicular protein

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC134985

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion molecule binding IPI
Inferred from Physical Interaction
more info
PubMed 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association TAS
Traceable Author Statement
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
zinc ion binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
leukocyte migration involved in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
lymphocyte chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of MAP kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of NF-kappaB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of T cell differentiation in thymus ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of acute inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of bone resorption ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of eosinophil migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of fibronectin-dependent thymocyte migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of innate immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neutrophil extravasation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein kinase B signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein processing NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of protein secretion IC
Inferred by Curator
more info
PubMed 
positive regulation of thymocyte apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of tumor necrosis factor (ligand) superfamily member 11 production ISS
Inferred from Sequence or Structural Similarity
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
alpha9-beta1 integrin-ADAM8 complex ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dense core granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
phagolysosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
podosome IDA
Inferred from Direct Assay
more info
PubMed 
specific granule IDA
Inferred from Direct Assay
more info
PubMed 
specific granule membrane TAS
Traceable Author Statement
more info
 
tertiary granule IDA
Inferred from Direct Assay
more info
PubMed 
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_011537419.2
XP_016870954.1
XP_016870955.1

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.

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
    P78325
    UniProtKB/TrEMBL
    Q14C66
    Related
    ENSP00000453302.1, ENST00000445355.7
    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
  2. NM_001164489.1NP_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, BM144968, 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_001164490.1NP_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, BM144968, BQ007791, DA936506, DC401057, DC408787
    Consensus CDS
    CCDS58102.1
    UniProtKB/Swiss-Prot
    P78325
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    133262416..133276903 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539117.2XP_011537419.2  disintegrin and metalloproteinase domain-containing protein 8 isoform X2

  2. XM_017015465.1XP_016870954.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X1

  3. XM_017015466.1XP_016870955.1  disintegrin and metalloproteinase domain-containing protein 8 isoform X3

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