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Q99965 (ADAM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
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to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ADAM2
Synonyms:FTNB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length735 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Membrane; Single-pass type I membrane protein.

Tissue specificity

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

Domain

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.

Post-translational modification

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

Miscellaneous

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

Sequence similarities

Contains 1 disintegrin domain.

Contains 1 EGF-like domain.

Contains 1 peptidase M12B domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q99965-1)

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.
Isoform 2 (identifier: Q99965-2)

The sequence of this isoform differs from the canonical sequence as follows:
     172-190: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1616 Potential
Propeptide17 – 174158
PRO_0000029042
Chain175 – 735561Disintegrin and metalloproteinase domain-containing protein 2
PRO_0000029043

Regions

Topological domain175 – 686512Extracellular Potential
Transmembrane687 – 70721Helical; Potential
Topological domain708 – 73528Cytoplasmic Potential
Domain178 – 375198Peptidase M12B
Domain384 – 47390Disintegrin
Domain612 – 64534EGF-like
Compositional bias477 – 606130Cys-rich

Amino acid modifications

Glycosylation1221N-linked (GlcNAc...) Potential
Glycosylation2201N-linked (GlcNAc...) Potential
Glycosylation3531N-linked (GlcNAc...) Potential
Glycosylation4591N-linked (GlcNAc...) Potential
Glycosylation5661N-linked (GlcNAc...) Potential
Disulfide bond287 ↔ 370 By similarity
Disulfide bond329 ↔ 354 By similarity
Disulfide bond331 ↔ 336 By similarity
Disulfide bond445 ↔ 465 By similarity
Disulfide bond616 ↔ 627 By similarity
Disulfide bond621 ↔ 633 By similarity
Disulfide bond635 ↔ 644 By similarity

Natural variations

Alternative sequence172 – 19019Missing in isoform 2.
VSP_005471
Natural variant101G → W.
Corresponds to variant rs34800519 [ dbSNP | Ensembl ].
VAR_035217

Experimental info

Sequence conflict31Missing in AAD04206. Ref.2
Sequence conflict211D → H in CAA67753. Ref.3
Sequence conflict991E → D in CAA67753. Ref.3
Sequence conflict1061V → G in CAA67753. Ref.3
Sequence conflict1701V → A in AAD04206. Ref.2
Sequence conflict2881D → H in AAC51110. Ref.1
Sequence conflict3211I → T in AAC51110. Ref.1
Sequence conflict3881G → S in CAA67753. Ref.3
Sequence conflict396 – 3983EEC → DEF in CAA67753. Ref.3
Sequence conflict5011G → S in CAA67753. Ref.3
Sequence conflict5291D → Y in CAA67753. Ref.3
Sequence conflict5791S → G in CAA67753. Ref.3
Sequence conflict5881W → L in CAA67753. Ref.3
Sequence conflict6031N → D in CAA67753. Ref.3
Sequence conflict629 – 6302NK → KQ in CAA67753. Ref.3
Sequence conflict6381S → F in CAA67753. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified February 1, 2003. Version 2.
Checksum: 92867B5340BEE01F

FASTA73582,457
        10         20         30         40         50         60 
MWRVLFLLSG LGGLRMDSNF DSLPVQITVP EKIRSIIKEG IESQASYKIV IEGKPYTVNL 

        70         80         90        100        110        120 
MQKNFLPHNF RVYSYSGTGI MKPLDQDFQN FCHYQGYIEG YPKSVVMVST CTGLRGVLQF 

       130        140        150        160        170        180 
ENVSYGIEPL ESSVGFEHVI YQVKHKKADV SLYNEKDIES RDLSFKLQSV EPQQDFAKYI 

       190        200        210        220        230        240 
EMHVIVEKQL YNHMGSDTTV VAQKVFQLIG LTNAIFVSFN ITIILSSLEL WIDENKIATT 

       250        260        270        280        290        300 
GEANELLHTF LRWKTSYLVL RPHDVAFLLV YREKSNYVGA TFQGKMCDAN YAGGVVLHPR 

       310        320        330        340        350        360 
TISLESLAVI LAQLLSLSMG ITYDDINKCQ CSGAVCIMNP EAIHFSGVKI FSNCSFEDFA 

       370        380        390        400        410        420 
HFISKQKSQC LHNQPRLDPF FKQQAVCGNA KLEAGEECDC GTEQDCALIG ETCCDIATCR 

       430        440        450        460        470        480 
FKAGSNCAEG PCCENCLFMS KERMCRPSFE ECDLPEYCNG SSASCPENHY VQTGHPCGLN 

       490        500        510        520        530        540 
QWICIDGVCM SGDKQCTDTF GKEVEFGPSE CYSHLNSKTD VSGNCGISDS GYTQCEADNL 

       550        560        570        580        590        600 
QCGKLICKYV GKFLLQIPRA TIIYANISGH LCIAVEFASD HADSQKMWIK DGTSCGSNKV 

       610        620        630        640        650        660 
CRNQRCVSSS YLGYDCTTDK CNDRGVCNNK KHCHCSASYL PPDCSVQSDL WPGGSIDSGN 

       670        680        690        700        710        720 
FPPVAIPARL PERRYIENIY HSKPMRWPFF LFIPFFIIFC VLIAIMVKVN FQRKKWRTED 

       730 
YSSDEQPESE SEPKG

« Hide

Isoform 2 [UniParc].

Checksum: A25CA5AD8AE5A3C6
Show »

FASTA71680,158

References

« Hide 'large scale' references
[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]"Molecular cloning of the human fertilin beta subunit."
Gupta S.K., Alves K., Palladino L.O., Mark G.E., Hollis G.F.
Biochem. Biophys. Res. Commun. 224:318-326(1996) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		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.
IPIIPI00019173.
IPI00216374.
PIRJC4861.
RefSeqNP_001455.3. NM_001464.3.
UniGeneHs.177959.

3D structure databases

ProteinModelPortalQ99965.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000265708.

Protein family/group databases

MEROPSM12.950.

PTM databases

PhosphoSiteQ99965.

Polymorphism databases

DMDM28202251.

2D gel databases

REPRODUCTION-2DPAGEQ99965.

Proteomic databases

PaxDbQ99965.
PRIDEQ99965.

Protocols and materials databases

DNASU2515.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265708; ENSP00000265708; ENSG00000104755.
ENST00000347580; ENSP00000343854; ENSG00000104755.
GeneID2515.
KEGGhsa:2515.
UCSCuc003xnj.3. human.
uc003xnk.3. human.

Organism-specific databases

CTD2515.
GeneCardsGC08M039601.
H-InvDBHIX0025571.
HGNCHGNC:198. ADAM2.
HPACAB022390.
HPA024621.
HPA026581.
MIM601533. gene.
neXtProtNX_Q99965.
PharmGKBPA24515.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG242228.
HOGENOMHOG000230883.
HOVERGENHBG103628.
InParanoidQ99965.
KOK06833.
OMAWPFFLLI.
PhylomeDBQ99965.

Gene expression databases

ArrayExpressQ99965.
BgeeQ99965.
CleanExHS_ADAM2.
GenevestigatorQ99965.
GermOnlineENSG00000104755. Homo sapiens.

Family and domain databases

Gene3D3.40.390.10. 1 hit.
4.10.70.10. 1 hit.
InterProIPR006586. ADAM_Cys-rich.
IPR001762. Blood-coag_inhib_Disintegrin.
IPR018358. Disintegrin_CS.
IPR024079. MetalloPept_cat_dom.
IPR001590. Peptidase_M12B.
IPR002870. Peptidase_M12B_N.
[Graphical view]
PfamPF08516. ADAM_CR. 1 hit.
PF00200. Disintegrin. 1 hit.
PF01562. Pep_M12B_propep. 1 hit.
PF01421. Reprolysin. 1 hit.
[Graphical view]
PRINTSPR00289. DISINTEGRIN.
SMARTSM00608. ACR. 1 hit.
SM00050. DISIN. 1 hit.
[Graphical view]
SUPFAMSSF57552. Disintegrin. 1 hit.
PROSITEPS50215. ADAM_MEPRO. 1 hit.
PS00427. DISINTEGRIN_1. 1 hit.
PS50214. DISINTEGRIN_2. 1 hit.
PS00022. EGF_1. False negative.
PS01186. EGF_2. False negative.
PS50026. EGF_3. False negative.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi2515.
NextBio9905.
SOURCESearch...

Entry information

Entry nameADAM2_HUMAN
AccessionPrimary (citable) accession number: Q99965
Secondary accession number(s): P78326, Q9UQQ8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: February 1, 2003
Last modified: May 1, 2013
This is version 117 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Peptidase families

Classification of peptidase families and list of entries

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents