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Q99965

- ADAM2_HUMAN

UniProt

Q99965 - ADAM2_HUMAN

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Protein
Disintegrin and metalloproteinase domain-containing protein 2
Gene
ADAM2, FTNB
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini175 – 686512Extracellular Reviewed prediction
Add
BLAST
Transmembranei687 – 70721Helical; Reviewed prediction
Add
BLAST
Topological domaini708 – 73528Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24515.

PTM / Processingi

Molecule processing

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

Amino acid modifications

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini178 – 375198Peptidase M12B
Add
BLAST
Domaini384 – 47390Disintegrin
Add
BLAST
Domaini612 – 64534EGF-like
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi477 – 606130Cys-rich
Add
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.
Contains 1 EGF-like domain.

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

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.
VSP_005471Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti3 – 31Missing in AAD04206. 1 Publication
Sequence conflicti21 – 211D → H in CAA67753. 1 Publication
Sequence conflicti99 – 991E → D in CAA67753. 1 Publication
Sequence conflicti106 – 1061V → G in CAA67753. 1 Publication
Sequence conflicti170 – 1701V → A in AAD04206. 1 Publication
Sequence conflicti288 – 2881D → H in AAC51110. 1 Publication
Sequence conflicti321 – 3211I → T in AAC51110. 1 Publication
Sequence conflicti388 – 3881G → S in CAA67753. 1 Publication
Sequence conflicti396 – 3983EEC → DEF in CAA67753. 1 Publication
Sequence conflicti501 – 5011G → S in CAA67753. 1 Publication
Sequence conflicti529 – 5291D → Y in CAA67753. 1 Publication
Sequence conflicti579 – 5791S → G in CAA67753. 1 Publication
Sequence conflicti588 – 5881W → L in CAA67753. 1 Publication
Sequence conflicti603 – 6031N → D in CAA67753. 1 Publication
Sequence conflicti629 – 6302NK → KQ in CAA67753. 1 Publication
Sequence conflicti638 – 6381S → F in CAA67753. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 129 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

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