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

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

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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

NCBI Reference Sequences (RefSeq)

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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

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