• Gene id: 9509

Gene Summary

• Gene Symbol: ADAMTS2   Gene   UCSC   Ensembl
• Aliases: ADAM-TS2, ADAMTS-2, ADAMTS-3, EDSDERMS, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 2
• Alternate names: A disintegrin and metalloproteinase with thrombospondin motifs 2, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2, procollagen I N-proteinase, procollagen I/II amino propeptide-processing enzyme, procollagen N-endo,
• Gene location: 5q35.3 (179345460: 179110852)     Exons: 23     NC_000005.10
• Gene summary(Entrez): This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri
• OMIM: 120650

Protein Summary

• Protein general information: O95450  
  • Name: A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM TS 2) (ADAM TS2) (ADAMTS 2) (EC 3.4.24.14) (Procollagen I N proteinase) (PC I NP) (Procollagen I/II amino propeptide processing enzyme) (Procollagen N endopeptidase) (pNPI)
  • Length: 1211  
  • Mass: 134755
  • Tissue specificity: Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain.
• Sequence:

  MDPPAGAARRLLCPALLLLLLLLPPPLLPPPPPPANARLAAAADPPGGPLGHGAERILAVPVRTDAQGRLVSHVV
  SAATSRAGVRARRAAPVRTPSFPGGNEEEPGSHLFYNVTVFGRDLHLRLRPNARLVAPGATMEWQGEKGTTRVEP
  LLGSCLYVGDVAGLAEASSVALSNCDGLAGLIRMEEEEFFIEPLEKGLAAQEAEQGRVHVVYRRPPTSPPLGGPQ
  ALDTGASLDSLDSLSRALGVLEEHANSSRRRARRHAADDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNE
  IYHDESLGAHINVVLVRIILLSYGKSMSLIEIGNPSQSLENVCRWAYLQQKPDTGHDEYHDHAIFLTRQDFGPSG
  MQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDGQGNRCGDEVRLGSIMAPLVQAAFHRFHWSR
  CSQQELSRYLHSYDCLLDDPFAHDWPALPQLPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYF
  CKTKKGPPLDGTMCAPGKHCFKGHCIWLTPDILKRDGSWGAWSPFGSCSRTCGTGVKFRTRQCDNPHPANGGRTC
  SGLAYDFQLCSRQDCPDSLADFREEQCRQWDLYFEHGDAQHHWLPHEHRDAKERCHLYCESRETGEVVSMKRMVH
  DGTRCSYKDAFSLCVRGDCRKVGCDGVIGSSKQEDKCGVCGGDNSHCKVVKGTFTRSPKKHGYIKMFEIPAGARH
  LLIQEVDATSHHLAVKNLETGKFILNEENDVDASSKTFIAMGVEWEYRDEDGRETLQTMGPLHGTITVLVIPVGD
  TRVSLTYKYMIHEDSLNVDDNNVLEEDSVVYEWALKKWSPCSKPCGGGSQFTKYGCRRRLDHKMVHRGFCAALSK
  PKAIRRACNPQECSQPVWVTGEWEPCSQTCGRTGMQVRSVRCIQPLHDNTTRSVHAKHCNDARPESRRACSRELC
  PGRWRAGPWSQCSVTCGNGTQERPVLCRTADDSFGICQEERPETARTCRLGPCPRNISDPSKKSYVVQWLSRPDP
  DSPIRKISSKGHCQGDKSIFCRMEVLSRYCSIPGYNKLCCKSCNLYNNLTNVEGRIEPPPGKHNDIDVFMPTLPV
  PTVAMEVRPSPSTPLEVPLNASSTNATEDHPETNAVDEPYKIHGLEDEVQPPNLIPRRPSPYEKTRNQRIQELID
  EMRKKEMLGKF

• Structural information:
  • Protein Domains: (266..47-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (480..56-)
    (/note="Disintegrin-)
    (561..61-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (854..91-)
    (/note="TSP-typ)
  • Interpro: IPR041645  IPR010294  IPR013273  IPR024079  IPR013275   IPR001590  IPR002870  IPR010909  IPR000884  IPR036383  
  • Prosite: PS50215 PS50900 PS50092
  • STRING: ENSP00000251582
• Other Databases: GeneCards:  ADAMTS2  Malacards:  ADAMTS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0030574	collagen catabolic process	IEA	biological process
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0016485	protein processing	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process

Diseases

Associated diseases	References
Ehlers-Danlos syndrome dermatospraxis type	KEGG:H02244
Ehlers-Danlos syndrome dermatospraxis type	KEGG:H02244
Ehlers-Danlos syndrome	PMID:15373769
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray