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    ADAM2 ADAM metallopeptidase domain 2 [ Homo sapiens (human) ]

    Gene ID: 2515, updated on 5-Aug-2018

    Summary

    Official Symbol
    ADAM2provided by HGNC
    Official Full Name
    ADAM metallopeptidase domain 2provided by HGNC
    Primary source
    HGNC:HGNC:198
    See related
    Ensembl:ENSG00000104755 MIM:601533; Vega:OTTHUMG00000164041
    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
    CT15; FTNB; PH30; CRYN1; CRYN2; PH-30b; PH30-beta
    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 encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
    Expression
    Restricted expression toward testis (RPKM 28.4) See more
    Orthologs

    Genomic context

    See ADAM2 in Genome Data Viewer
    Location:
    8p11.22
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (39743735..39838289, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (39601254..39695808, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 3A-like Neighboring gene ADAM metallopeptidase domain 18 Neighboring gene polo like kinase 4 pseudogene Neighboring gene indoleamine 2,3-dioxygenase 1 Neighboring gene indoleamine 2,3-dioxygenase 2

    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

    • Fertilization, organism-specific biosystem (from REACTOME)
      Fertilization, organism-specific biosystemMammalian fertilization comprises sperm migration through the female reproductive tract, biochemical and morphological changes to sperm, and sperm-egg interaction in the oviduct. Although the broad c...
    • Interaction With The Zona Pellucida, organism-specific biosystem (from REACTOME)
      Interaction With The Zona Pellucida, organism-specific biosystemThe zona pellucida (ZP), a glycoproteinaceous matrix surrounding the mammalian oocyte plays an important role in species specific sperm-egg binding, induction of acrosome reaction in the ZP bound spe...
    • Reproduction, organism-specific biosystem (from REACTOME)
      Reproduction, organism-specific biosystemHuman reproduction mixes the genomes of two individuals creating a new organism. The offspring individuals produced by sexual reproduction differ from their parents and from their siblings. Reproduct...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    integrin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    adult behavior IEA
    Inferred from Electronic Annotation
    more info
     
    binding of sperm to zona pellucida TAS
    Traceable Author Statement
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    fusion of sperm to egg plasma membrane involved in single fertilization TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 2
    Names
    cancer/testis antigen 15
    fertilin subunit beta

    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_001278113.1NP_001265042.1  disintegrin and metalloproteinase domain-containing protein 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001265042.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AP005902, BC034957
      Consensus CDS
      CCDS64882.1
      UniProtKB/Swiss-Prot
      Q99965
      Related
      ENSP00000343854.4, OTTHUMP00000225677, ENST00000347580.8, OTTHUMT00000376924
      Conserved Domains (4) summary
      smart00050
      Location:374451
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:453590
      ACR; ADAM Cysteine-Rich Domain
      pfam01421
      Location:171356
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:26141
      Pep_M12B_propep; Reprolysin family propeptide
    2. NM_001278114.1NP_001265043.1  disintegrin and metalloproteinase domain-containing protein 2 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001265043.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and lacks an internal exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AK301734, AP005902, BC034957
      Consensus CDS
      CCDS64883.1
      UniProtKB/Swiss-Prot
      Q99965
      UniProtKB/TrEMBL
      B4DWY7
      Related
      ENSP00000429352.1, OTTHUMP00000225680, ENST00000521880.5, OTTHUMT00000376927
      Conserved Domains (5) summary
      smart00050
      Location:393470
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:472536
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:178373
      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:178375
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:42140
      Pep_M12B_propep; Reprolysin family propeptide
    3. NM_001464.4NP_001455.3  disintegrin and metalloproteinase domain-containing protein 2 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001455.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AJ133005, AP005902, U38805
      Consensus CDS
      CCDS34884.1
      UniProtKB/Swiss-Prot
      Q99965
      Related
      ENSP00000265708.4, OTTHUMP00000225679, ENST00000265708.8, OTTHUMT00000376926
      Conserved Domains (5) summary
      smart00050
      Location:393470
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:472609
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:178373
      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:178375
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:42140
      Pep_M12B_propep; Reprolysin family propeptide

    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_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      39743735..39838289 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544480.1XP_011542782.1  disintegrin and metalloproteinase domain-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011542782.1

      UniProtKB/TrEMBL
      Q6P2G0
      Related
      ENSP00000369182.2, OTTHUMP00000225678, ENST00000379853.6, OTTHUMT00000376925
      Conserved Domains (4) summary
      smart00050
      Location:267344
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:346453
      ACR; ADAM Cysteine-Rich Domain
      pfam01562
      Location:26141
      Pep_M12B_propep; Reprolysin family propeptide
      cl26139
      Location:170249
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    2. XM_011544479.1XP_011542781.1  disintegrin and metalloproteinase domain-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011542781.1

      Conserved Domains (4) summary
      smart00050
      Location:267344
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:346483
      ACR; ADAM Cysteine-Rich Domain
      pfam01562
      Location:42140
      Pep_M12B_propep; Reprolysin family propeptide
      cl00064
      Location:170247
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...
    3. XM_005273468.1XP_005273525.1  disintegrin and metalloproteinase domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005273525.1

      Conserved Domains (5) summary
      smart00050
      Location:393470
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:472579
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:178373
      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:178375
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:42140
      Pep_M12B_propep; Reprolysin family propeptide

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NT_187577.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      494374..588925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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