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

Gene ID: 2515, updated on 21-Dec-2019

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
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
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (39743735..39838227, 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 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

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_001278113.2NP_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: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_001278114.2NP_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/Swiss-Prot
    Q99965
    UniProtKB/TrEMBL
    B4DWY7
    Related
    ENSP00000429352.1, ENST00000521880.5
    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_001464.5NP_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, ENST00000265708.9
    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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    39743735..39838227 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, ENST00000379853.6
    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.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187577.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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