• Gene id: 80070

Gene Summary

• Gene Symbol: ADAMTS20   Gene   UCSC   Ensembl
• Aliases: ADAM-TS20, ADAMTS-20, GON-1
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 20
• Alternate names: A disintegrin and metalloproteinase with thrombospondin motifs 20, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20,
• Gene location: 12q12 (43551970: 43352842)     Exons: 40     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein ma
• OMIM: 611681

Protein Summary

• Protein general information: P59510  
  • Name: A disintegrin and metalloproteinase with thrombospondin motifs 20 (ADAM TS 20) (ADAM TS20) (ADAMTS 20) (EC 3.4.24. )
  • Length: 1910  
  • Mass: 214,721
• Sequence:

  MWVAKWLTGLLYHLSLFITRSWEVDFHPRQEALVRTLTSYEVVIPERVNEFGEVFPQSHHFSRQKRSSEALEPMP
  FRTHYRFTAYGQLFQLNLTADASFLAAGYTEVHLGTPERGAWESDAGPSDLRHCFYRGQVNSQEDYKAVVSLCGG
  LTGTFKGQNGEYFLEPIMKADGNEYEDGHNKPHLIYRQDLNNSFLQTLKYCSVSESQIKETSLPFHTYSNMNEDL
  NVMKERVLGHTSKNVPLKDERRHSRKKRLISYPRYIEIMVTADAKVVSAHGSNLQNYILTLMSIVATIYKDPSIG
  NLIHIVVVKLVMIHREEEGPVINFDGATTLKNFCSWQQTQNDLDDVHPSHHDTAVLITREDICSSKEKCNMLGLS
  YLGTICDPLQSCFINEEKGLISAFTIAHELGHTLGVQHDDNPRCKEMKVTKYHVMAPALSFHMSPWSWSNCSRKY
  VTEFLDTGYGECLLDKPDEEIYNLPSELPGSRYDGNKQCELAFGPGSQMCPHINICMHLWCTSTEKLHKGCFTQH
  VPPADGTDCGPGMHCRHGLCVNKETETRPVNGEWGPWEPYSSCSRTCGGGIESATRRCNRPEPRNGGNYCVGRRM
  KFRSCNTDSCPKGTQDFREKQCSDFNGKHLDISGIPSNVRWLPRYSGIGTKDRCKLYCQVAGTNYFYLLKDMVED
  GTPCGTETHDICVQGQCMAAGCDHVLNSSAKIDKCGVCGGDNSSCKTITGVFNSSHYGYNVVVKIPAGATNVDIR
  QYSYSGQPDDSYLALSDAEGNFLFNGNFLLSTSKKEINVQGTRTVIEYSGSNNAVERINSTNRQEKEILIEVLCV
  GNLYNPDVHYSFNIPLEERSDMFTWDPYGPWEGCTKMCQGLQRRNITCIHKSDHSVVSDKECDHLPLPSFVTQSC
  NTDCELRWHVIGKSECSSQCGQGYRTLDIHCMKYSIHEGQTVQVDDHYCGDQLKPPTQELCHGNCVFTRWHYSEW
  SQCSRSCGGGERSRESYCMNNFGHRLADNECQELSRVTRENCNEFSCPSWAASEWSECLVTCGKGTKQRQVWCQL
  NVDHLSDGFCNSSTKPESLSPCELHTCASWQVGPWGPCTTTCGHGYQMRDVKCVNELASAVLEDTECHEASRPSD
  RQSCVLTPCSFISKLETALLPTVLIKKMAQWRHGSWTPCSVSCGRGTQARYVSCRDALDRIADESYCAHLPRPAE
  IWDCFTPCGEWQAGDWSPCSASCGHGKTTRQVLCMNYHQPIDENYCDPEVRPLMEQECSLAACPPAHSHFPSSPV
  QPSYYLSTNLPLTQKLEDNENQVVHPSVRGNQWRTGPWGSCSSSCSGGLQHRAVVCQDENGQSASYCDAASKPPE
  LQQCGPGPCPQWNYGNWGECSQTCGGGIKSRLVICQFPNGQILEDHNCEIVNKPPSVIQCHMHACPADVSWHQEP
  WTSCSASCGKGRKYREVFCIDQFQRKLEDTNCSQVQKPPTHKACRSVRCPSWKANSWNECSVTCGSGVQQRDVYC
  RLKGVGQVVEEMCDQSTRPCSQRRCWSQDCVQHKGMERGRLNCSTSCERKDSHQRMECTDNQIRQVNEIVYNSST
  ISLTSKNCRNPPCNYIVVTADSSQCANNCGFSYRQRITYCTEIPSTKKHKLHRLRPIVYQECPVVPSSQVYQCIN
  SCLHLATWKVGKWSKCSVTCGIGIMKRQVKCITKHGLSSDLCLNHLKPGAQKKCYANDCKSFTTCKEIQVKNHIR
  KDGDYYLNIKGRIIKIYCADMYLENPKEYLTLVQGEENFSEVYGFRLKNPYQCPFNGSRREDCECDNGHLAAGYT
  VFSKIRIDLTSMQIKTTDLLFSKTIFGNAVPFATAGDCYSAFRCPQGQFSINLSGTGMKISSTAKWLTQGSYTSV
  SIRRSEDGTRFFGKCGGYCGKCLPHMTTGLPIQVI

• Structural information:
  • Protein Domains: Peptidase (259-467)
    Disintegrin (468-555)
    TSP (556-611)
    TSP (846-904)
    (905-961)
  • Interpro: IPR010294  IPR024079  IPR012314  IPR001590  IPR002870   IPR000884  IPR036383  
  • Prosite: PS50215 PS51046 PS50092 PS00142
  • STRING: ENSP00000374071
• Other Databases: GeneCards:  ADAMTS20  Malacards:  ADAMTS20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009967	positive regulation of signal transduction	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	IEA	biological process
GO:0031012	extracellular matrix	TAS	cellular component
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009967	positive regulation of signal transduction	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048070	regulation of developmental pigmentation	IEA	biological process
GO:0031012	extracellular matrix	TAS	cellular component
GO:0031012	extracellular matrix	TAS	cellular component

Diseases

Associated diseases	References
Unexplained azoospermia	MIK: 26662397
Spermatogenesis defects	MIK: 26662397
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 26662397
Unexplained azoospermia	MIK: 26662397

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26662397	Unexplained azoospermia	Copy number variations		33 (11 patients with chromosome abnormalities, 16 males with azoospermia)	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq