U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 2515, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    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; AllianceGenome:HGNC:198
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    8p11.22
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (39743735..39838227, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (40020946..40115447, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (39601254..39695746, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 3A-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:39442253-39442752 Neighboring gene ADAM metallopeptidase domain 18 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39507922-39508516 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39508517-39509110 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:39509111-39509704 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:39584450-39585171 Neighboring gene ribosomal protein L7a pseudogene 80 Neighboring gene indoleamine 2,3-dioxygenase 1

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Is there a relationship between infertility and fertilin β protein distribution? Gundogan GI, et al. Rev Int Androl, 2022 Oct-Dec. PMID 35933293
    2. Testicular and epididymal ADAMs: expression and function during fertilization. Cho C. Nat Rev Urol, 2012 Oct. PMID 22926424
    3. Mapping, sequence, and expression analysis of the human fertilin beta gene (FTNB). Burkin HR, et al. Genomics, 1997 Feb 15. PMID 9070941
    4. Assessing the potential of HSPA2 and ADAM2 as two biomarkers for human sperm selection. Heidari M, et al. Hum Fertil (Camb), 2020 Jun. PMID 30463455
    5. Evolutionary divergence and functions of the ADAM and ADAMTS gene families. Brocker CN, et al. Hum Genomics, 2009 Oct. PMID 19951893, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Is there a relationship between infertility and fertilin beta protein distribution?
      Title: Is there a relationship between infertility and fertilin β protein distribution?
    2. Assessing the potential of HSPA2 and ADAM2 as two biomarkers for human sperm selection.
      Title: Assessing the potential of HSPA2 and ADAM2 as two biomarkers for human sperm selection.
    3. ADAM2, CALR3 and SAGE1 cancer/testis antigens are not promising targets for immunotherapy of breast and lung cancer.
      Title: Lack of ADAM2, CALR3 and SAGE1 Cancer/Testis Antigen Expression in Lung and Breast Cancer.
    4. The fertilin beta contributes not only to successful fertilization, but may has an important impact in development of preimplantation embryos.
      Title: Association between fertilin beta, protamines 1 and 2 and spermatid-specific linker histone H1-like protein mRNA levels, fertilization ability of human spermatozoa, and quality of preimplantation embryos.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables integrin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adult behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in binding of sperm to zona pellucida IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fusion of sperm to egg plasma membrane involved in single fertilization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in male gonad development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    disintegrin and metalloproteinase domain-containing protein 2
    Names
    cancer/testis antigen 15
    fertilin subunit beta

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_001278113.2 → NP_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, ENST00000347580.8
      Conserved Domains (4) summary
      smart00050
      Location:374 → 451
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:453 → 590
      ACR; ADAM Cysteine-Rich Domain
      pfam01421
      Location:171 → 356
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:26 → 141
      Pep_M12B_propep; Reprolysin family propeptide

    2. NM_001278114.2 → NP_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, BC034957
      Consensus CDS
      CCDS64883.1
      UniProtKB/TrEMBL
      B4DWY7
      Related
      ENSP00000429352.1, ENST00000521880.5
      Conserved Domains (5) summary
      smart00050
      Location:393 → 470
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:472 → 536
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:178 → 373
      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:178 → 375
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:42 → 140
      Pep_M12B_propep; Reprolysin family propeptide

    3. NM_001464.5 → NP_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
      P78326, Q99965, Q9UQQ8
      Related
      ENSP00000265708.4, ENST00000265708.9
      Conserved Domains (5) summary
      smart00050
      Location:393 → 470
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:472 → 609
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:178 → 373
      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:178 → 375
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:42 → 140
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      39743735..39838227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544480.1 → XP_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, ENST00000379853.6
      Conserved Domains (4) summary
      smart00050
      Location:267 → 344
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:346 → 453
      ACR; ADAM Cysteine-Rich Domain
      pfam01562
      Location:26 → 141
      Pep_M12B_propep; Reprolysin family propeptide
      cl26139
      Location:170 → 249
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease

    2. XM_011544479.1 → XP_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:267 → 344
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:346 → 483
      ACR; ADAM Cysteine-Rich Domain
      pfam01562
      Location:42 → 140
      Pep_M12B_propep; Reprolysin family propeptide
      cl00064
      Location:170 → 247
      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_005273468.1 → XP_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:393 → 470
      DISIN; Homologues of snake disintegrins
      smart00608
      Location:472 → 579
      ACR; ADAM Cysteine-Rich Domain
      cd04269
      Location:178 → 373
      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:178 → 375
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:42 → 140
      Pep_M12B_propep; Reprolysin family propeptide

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187577.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      494374..588863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328860.1 → XP_054184835.1  disintegrin and metalloproteinase domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      Q6P2G0

    2. XM_054328859.1 → XP_054184834.1  disintegrin and metalloproteinase domain-containing protein 2 isoform X2

    3. XM_054328858.1 → XP_054184833.1  disintegrin and metalloproteinase domain-containing protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      40020946..40115447 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360242.1 → XP_054216217.1  disintegrin and metalloproteinase domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      Q6P2G0

    2. XM_054360241.1 → XP_054216216.1  disintegrin and metalloproteinase domain-containing protein 2 isoform X2

    3. XM_054360240.1 → XP_054216215.1  disintegrin and metalloproteinase domain-containing protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99965.2 GenPept UniProtKB/Swiss-Prot:Q99965

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous