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Q99965

- ADAM2_HUMAN

UniProt

Q99965 - ADAM2_HUMAN

Protein

Disintegrin and metalloproteinase domain-containing protein 2

Gene

ADAM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (01 Feb 2003)
      Previous versions | rss
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    Functioni

    Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein.

    GO - Molecular functioni

    1. integrin binding Source: ProtInc
    2. metalloendopeptidase activity Source: InterPro
    3. metallopeptidase activity Source: ProtInc
    4. zinc ion binding Source: InterPro

    GO - Biological processi

    1. adult behavior Source: Ensembl
    2. binding of sperm to zona pellucida Source: Reactome
    3. cell adhesion Source: UniProtKB-KW
    4. fusion of sperm to egg plasma membrane Source: ProtInc
    5. multicellular organism reproduction Source: Reactome
    6. single fertilization Source: Reactome
    7. visual learning Source: Ensembl

    Keywords - Biological processi

    Cell adhesion

    Enzyme and pathway databases

    ReactomeiREACT_163933. Interaction With The Zona Pellucida.

    Protein family/group databases

    MEROPSiM12.950.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Disintegrin and metalloproteinase domain-containing protein 2
    Short name:
    ADAM 2
    Alternative name(s):
    Cancer/testis antigen 15
    Short name:
    CT15
    Fertilin subunit beta
    PH-30
    Short name:
    PH30
    PH30-beta
    Gene namesi
    Name:ADAM2
    Synonyms:FTNB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:198. ADAM2.

    Subcellular locationi

    GO - Cellular componenti

    1. cell surface Source: Ensembl
    2. integral component of plasma membrane Source: ProtInc
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24515.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1616Sequence AnalysisAdd
    BLAST
    Propeptidei17 – 174158PRO_0000029042Add
    BLAST
    Chaini175 – 735561Disintegrin and metalloproteinase domain-containing protein 2PRO_0000029043Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi122 – 1221N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi220 – 2201N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi287 ↔ 370By similarity
    Disulfide bondi329 ↔ 354By similarity
    Disulfide bondi331 ↔ 336By similarity
    Glycosylationi353 – 3531N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi445 ↔ 465By similarity
    Glycosylationi459 – 4591N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi566 – 5661N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi616 ↔ 627By similarity
    Disulfide bondi621 ↔ 633By similarity
    Disulfide bondi635 ↔ 644By similarity

    Post-translational modificationi

    The prodomain and the metalloprotease domain are cleaved during the epididymal maturation of the spermatozoa.

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ99965.
    PRIDEiQ99965.

    2D gel databases

    REPRODUCTION-2DPAGEQ99965.

    PTM databases

    PhosphoSiteiQ99965.

    Expressioni

    Tissue specificityi

    Expressed specifically in spermatogenic cells in the seminiferous cells. Not detected in fetal tissues.

    Gene expression databases

    BgeeiQ99965.
    CleanExiHS_ADAM2.
    GenevestigatoriQ99965.

    Organism-specific databases

    HPAiCAB022390.
    HPA024621.
    HPA026581.

    Interactioni

    Protein-protein interaction databases

    BioGridi108791. 3 interactions.
    STRINGi9606.ENSP00000265708.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99965.
    SMRiQ99965. Positions 174-645.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini175 – 686512ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini708 – 73528CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei687 – 70721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini178 – 375198Peptidase M12BPROSITE-ProRule annotationAdd
    BLAST
    Domaini384 – 47390DisintegrinPROSITE-ProRule annotationAdd
    BLAST
    Domaini612 – 64534EGF-likeAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi477 – 606130Cys-richAdd
    BLAST

    Domaini

    A tripeptide motif (FEE) within disintegrin-like domain could be involved in the binding to egg integrin receptor and thus could mediate sperm/egg binding.

    Sequence similaritiesi

    Contains 1 disintegrin domain.PROSITE-ProRule annotation
    Contains 1 EGF-like domain.Curated
    Contains 1 peptidase M12B domain.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG242228.
    HOGENOMiHOG000230883.
    HOVERGENiHBG103628.
    InParanoidiQ99965.
    KOiK06833.
    OMAiCGKLICK.
    OrthoDBiEOG7HB58N.
    PhylomeDBiQ99965.
    TreeFamiTF314733.

    Family and domain databases

    Gene3Di3.40.390.10. 1 hit.
    4.10.70.10. 1 hit.
    InterProiIPR006586. ADAM_Cys-rich.
    IPR001762. Blood-coag_inhib_Disintegrin.
    IPR018358. Disintegrin_CS.
    IPR024079. MetalloPept_cat_dom.
    IPR001590. Peptidase_M12B.
    IPR002870. Peptidase_M12B_N.
    [Graphical view]
    PfamiPF08516. ADAM_CR. 1 hit.
    PF00200. Disintegrin. 1 hit.
    PF01562. Pep_M12B_propep. 1 hit.
    PF01421. Reprolysin. 1 hit.
    [Graphical view]
    PRINTSiPR00289. DISINTEGRIN.
    SMARTiSM00608. ACR. 1 hit.
    SM00050. DISIN. 1 hit.
    [Graphical view]
    SUPFAMiSSF57552. SSF57552. 1 hit.
    PROSITEiPS50215. ADAM_MEPRO. 1 hit.
    PS00427. DISINTEGRIN_1. 1 hit.
    PS50214. DISINTEGRIN_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99965-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MWRVLFLLSG LGGLRMDSNF DSLPVQITVP EKIRSIIKEG IESQASYKIV    50
    IEGKPYTVNL MQKNFLPHNF RVYSYSGTGI MKPLDQDFQN FCHYQGYIEG 100
    YPKSVVMVST CTGLRGVLQF ENVSYGIEPL ESSVGFEHVI YQVKHKKADV 150
    SLYNEKDIES RDLSFKLQSV EPQQDFAKYI EMHVIVEKQL YNHMGSDTTV 200
    VAQKVFQLIG LTNAIFVSFN ITIILSSLEL WIDENKIATT GEANELLHTF 250
    LRWKTSYLVL RPHDVAFLLV YREKSNYVGA TFQGKMCDAN YAGGVVLHPR 300
    TISLESLAVI LAQLLSLSMG ITYDDINKCQ CSGAVCIMNP EAIHFSGVKI 350
    FSNCSFEDFA HFISKQKSQC LHNQPRLDPF FKQQAVCGNA KLEAGEECDC 400
    GTEQDCALIG ETCCDIATCR FKAGSNCAEG PCCENCLFMS KERMCRPSFE 450
    ECDLPEYCNG SSASCPENHY VQTGHPCGLN QWICIDGVCM SGDKQCTDTF 500
    GKEVEFGPSE CYSHLNSKTD VSGNCGISDS GYTQCEADNL QCGKLICKYV 550
    GKFLLQIPRA TIIYANISGH LCIAVEFASD HADSQKMWIK DGTSCGSNKV 600
    CRNQRCVSSS YLGYDCTTDK CNDRGVCNNK KHCHCSASYL PPDCSVQSDL 650
    WPGGSIDSGN FPPVAIPARL PERRYIENIY HSKPMRWPFF LFIPFFIIFC 700
    VLIAIMVKVN FQRKKWRTED YSSDEQPESE SEPKG 735
    Length:735
    Mass (Da):82,457
    Last modified:February 1, 2003 - v2
    Checksum:i92867B5340BEE01F
    GO
    Isoform 2 (identifier: Q99965-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         172-190: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:716
    Mass (Da):80,158
    Checksum:iA25CA5AD8AE5A3C6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti3 – 31Missing in AAD04206. (PubMed:8702389)Curated
    Sequence conflicti21 – 211D → H in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti99 – 991E → D in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti106 – 1061V → G in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti170 – 1701V → A in AAD04206. (PubMed:8702389)Curated
    Sequence conflicti288 – 2881D → H in AAC51110. (PubMed:9041139)Curated
    Sequence conflicti321 – 3211I → T in AAC51110. (PubMed:9041139)Curated
    Sequence conflicti388 – 3881G → S in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti396 – 3983EEC → DEF in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti501 – 5011G → S in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti529 – 5291D → Y in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti579 – 5791S → G in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti588 – 5881W → L in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti603 – 6031N → D in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti629 – 6302NK → KQ in CAA67753. (PubMed:9070941)Curated
    Sequence conflicti638 – 6381S → F in CAA67753. (PubMed:9070941)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti10 – 101G → W.
    Corresponds to variant rs34800519 [ dbSNP | Ensembl ].
    VAR_035217

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei172 – 19019Missing in isoform 2. 1 PublicationVSP_005471Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U52370 mRNA. Translation: AAC51110.1.
    U38805 mRNA. Translation: AAD04206.1.
    X99374 mRNA. Translation: CAA67753.1.
    AJ133005 mRNA. Translation: CAB40813.1.
    BC034957 mRNA. Translation: AAH34957.1.
    CCDSiCCDS34884.1. [Q99965-1]
    CCDS64882.1. [Q99965-2]
    PIRiJC4861.
    RefSeqiNP_001265042.1. NM_001278113.1. [Q99965-2]
    NP_001265043.1. NM_001278114.1.
    NP_001455.3. NM_001464.4. [Q99965-1]
    UniGeneiHs.177959.

    Genome annotation databases

    EnsembliENST00000265708; ENSP00000265708; ENSG00000104755. [Q99965-1]
    ENST00000347580; ENSP00000343854; ENSG00000104755. [Q99965-2]
    GeneIDi2515.
    KEGGihsa:2515.
    UCSCiuc003xnj.4. human. [Q99965-1]
    uc003xnk.4. human. [Q99965-2]

    Polymorphism databases

    DMDMi28202251.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U52370 mRNA. Translation: AAC51110.1 .
    U38805 mRNA. Translation: AAD04206.1 .
    X99374 mRNA. Translation: CAA67753.1 .
    AJ133005 mRNA. Translation: CAB40813.1 .
    BC034957 mRNA. Translation: AAH34957.1 .
    CCDSi CCDS34884.1. [Q99965-1 ]
    CCDS64882.1. [Q99965-2 ]
    PIRi JC4861.
    RefSeqi NP_001265042.1. NM_001278113.1. [Q99965-2 ]
    NP_001265043.1. NM_001278114.1.
    NP_001455.3. NM_001464.4. [Q99965-1 ]
    UniGenei Hs.177959.

    3D structure databases

    ProteinModelPortali Q99965.
    SMRi Q99965. Positions 174-645.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108791. 3 interactions.
    STRINGi 9606.ENSP00000265708.

    Protein family/group databases

    MEROPSi M12.950.

    PTM databases

    PhosphoSitei Q99965.

    Polymorphism databases

    DMDMi 28202251.

    2D gel databases

    REPRODUCTION-2DPAGE Q99965.

    Proteomic databases

    PaxDbi Q99965.
    PRIDEi Q99965.

    Protocols and materials databases

    DNASUi 2515.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265708 ; ENSP00000265708 ; ENSG00000104755 . [Q99965-1 ]
    ENST00000347580 ; ENSP00000343854 ; ENSG00000104755 . [Q99965-2 ]
    GeneIDi 2515.
    KEGGi hsa:2515.
    UCSCi uc003xnj.4. human. [Q99965-1 ]
    uc003xnk.4. human. [Q99965-2 ]

    Organism-specific databases

    CTDi 2515.
    GeneCardsi GC08M039601.
    H-InvDB HIX0025571.
    HGNCi HGNC:198. ADAM2.
    HPAi CAB022390.
    HPA024621.
    HPA026581.
    MIMi 601533. gene.
    neXtProti NX_Q99965.
    PharmGKBi PA24515.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG242228.
    HOGENOMi HOG000230883.
    HOVERGENi HBG103628.
    InParanoidi Q99965.
    KOi K06833.
    OMAi CGKLICK.
    OrthoDBi EOG7HB58N.
    PhylomeDBi Q99965.
    TreeFami TF314733.

    Enzyme and pathway databases

    Reactomei REACT_163933. Interaction With The Zona Pellucida.

    Miscellaneous databases

    GeneWikii ADAM2.
    GenomeRNAii 2515.
    NextBioi 9905.
    PROi Q99965.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q99965.
    CleanExi HS_ADAM2.
    Genevestigatori Q99965.

    Family and domain databases

    Gene3Di 3.40.390.10. 1 hit.
    4.10.70.10. 1 hit.
    InterProi IPR006586. ADAM_Cys-rich.
    IPR001762. Blood-coag_inhib_Disintegrin.
    IPR018358. Disintegrin_CS.
    IPR024079. MetalloPept_cat_dom.
    IPR001590. Peptidase_M12B.
    IPR002870. Peptidase_M12B_N.
    [Graphical view ]
    Pfami PF08516. ADAM_CR. 1 hit.
    PF00200. Disintegrin. 1 hit.
    PF01562. Pep_M12B_propep. 1 hit.
    PF01421. Reprolysin. 1 hit.
    [Graphical view ]
    PRINTSi PR00289. DISINTEGRIN.
    SMARTi SM00608. ACR. 1 hit.
    SM00050. DISIN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF57552. SSF57552. 1 hit.
    PROSITEi PS50215. ADAM_MEPRO. 1 hit.
    PS00427. DISINTEGRIN_1. 1 hit.
    PS50214. DISINTEGRIN_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human fertilin beta: identification, characterization, and chromosomal mapping of an ADAM gene family member."
      Vidaeus C.M., von Kap-Herr C., Golden W.L., Eddy R.L., Shows T.B., Herr J.C.
      Mol. Reprod. Dev. 46:363-369(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    3. "Mapping, sequence, and expression analysis of the human fertilin beta gene (FTNB)."
      Burkin H.R., Burkin D.J., Davey P.M., Griffin D.K., Affara N.A.
      Genomics 40:190-192(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    4. "Nucleotide sequence of the human fertilin beta transcript."
      Hall L., Frayne J.
      Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.

    Entry informationi

    Entry nameiADAM2_HUMAN
    AccessioniPrimary (citable) accession number: Q99965
    Secondary accession number(s): P78326, Q9UQQ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: February 1, 2003
    Last modified: October 1, 2014
    This is version 130 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    In mammals, exists as a heterodimer composed of an alpha and beta subunits. In human, fertilin subunit alpha is a pseudogene.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. Peptidase families
      Classification of peptidase families and list of entries
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3