Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9509
Gene name	ADAM metallopeptidase with thrombospondin type 1 motif 2
Gene symbol	ADAMTS2
Synonyms (NCBI Gene)	ADAM-TS2ADAMTS-2ADAMTS-3EDSDERMSNPIPC I-NPPCI-NPPCINPPCPNIPNPI
Chromosome	5
Chromosome location	5q35.3
Summary	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

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs112155474	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs137853146	G>A	Pathogenic	Stop gained, coding sequence variant
rs137853147	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs141650732	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs143764421	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs145109914	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs147438064	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs150989902	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs376058580	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs547548078	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs565885690	A>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs568040559	AGCAGC>-,AGC,AGCAGCAGC,AGCAGCAGCAGC,AGCAGCAGCAGCAGC,AGCAGCAGCAGCAGCAGCAGC,AGCAGCAGCAGCAGCAGCAGCAGC	Uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs775509290	->AGGAGCGGC	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion
rs966437723	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1057517277	CTGTGCC>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1064794627	GGCGGCAGGAGCGGCGGCGGC>-,GGCGGCAGGAGCGGCGGCGGCGGCGGCAGGAGCGGCGGCGGC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, inframe insertion, coding sequence variant
rs1554123627	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554124086	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554125059	->A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

Show/Hide all (86)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038560	hsa-miR-106b-3p	CLASH	23622248
MIRT766594	hsa-miR-1286	CLIP-seq
MIRT766595	hsa-miR-1299	CLIP-seq
MIRT766596	hsa-miR-2115	CLIP-seq
MIRT766597	hsa-miR-3138	CLIP-seq
MIRT766598	hsa-miR-3175	CLIP-seq
MIRT766599	hsa-miR-3192	CLIP-seq
MIRT766600	hsa-miR-3665	CLIP-seq
MIRT766601	hsa-miR-3681	CLIP-seq
MIRT766602	hsa-miR-3919	CLIP-seq
MIRT766603	hsa-miR-4435	CLIP-seq
MIRT766604	hsa-miR-4520a-3p	CLIP-seq
MIRT766605	hsa-miR-4722-5p	CLIP-seq
MIRT766606	hsa-miR-4731-5p	CLIP-seq
MIRT766607	hsa-miR-4756-3p	CLIP-seq
MIRT766608	hsa-miR-4761-5p	CLIP-seq
MIRT766609	hsa-miR-4782-5p	CLIP-seq
MIRT766610	hsa-miR-516b	CLIP-seq
MIRT766611	hsa-miR-657	CLIP-seq
MIRT766612	hsa-miR-661	CLIP-seq
MIRT766613	hsa-miR-1203	CLIP-seq
MIRT766614	hsa-miR-4269	CLIP-seq
MIRT766615	hsa-miR-4438	CLIP-seq
MIRT766616	hsa-miR-5095	CLIP-seq
MIRT1545107	hsa-miR-1231	CLIP-seq
MIRT1545108	hsa-miR-2278	CLIP-seq
MIRT1545109	hsa-miR-3120-5p	CLIP-seq
MIRT1545110	hsa-miR-3922-5p	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT1545112	hsa-miR-4419a	CLIP-seq
MIRT1545113	hsa-miR-4460	CLIP-seq
MIRT1545114	hsa-miR-4468	CLIP-seq
MIRT1545115	hsa-miR-4510	CLIP-seq
MIRT1545116	hsa-miR-4708-3p	CLIP-seq
MIRT1545117	hsa-miR-4727-3p	CLIP-seq
MIRT1545118	hsa-miR-4732-5p	CLIP-seq
MIRT1545119	hsa-miR-4753-5p	CLIP-seq
MIRT766607	hsa-miR-4756-3p	CLIP-seq
MIRT1545120	hsa-miR-542-5p	CLIP-seq
MIRT1920216	hsa-miR-4436b-5p	CLIP-seq
MIRT1920216	hsa-miR-4436b-5p	CLIP-seq
MIRT1920216	hsa-miR-4436b-5p	CLIP-seq
MIRT1925840	hsa-miR-629	CLIP-seq
MIRT766594	hsa-miR-1286	CLIP-seq
MIRT2167206	hsa-miR-28-5p	CLIP-seq
MIRT2167207	hsa-miR-3139	CLIP-seq
MIRT2167208	hsa-miR-3977	CLIP-seq
MIRT1545112	hsa-miR-4419a	CLIP-seq
MIRT2167209	hsa-miR-4426	CLIP-seq
MIRT766603	hsa-miR-4435	CLIP-seq
MIRT2167210	hsa-miR-4459	CLIP-seq
MIRT1545115	hsa-miR-4510	CLIP-seq
MIRT2167211	hsa-miR-4639-5p	CLIP-seq
MIRT2167212	hsa-miR-4647	CLIP-seq
MIRT2167213	hsa-miR-4662b	CLIP-seq
MIRT2167214	hsa-miR-4686	CLIP-seq
MIRT2167215	hsa-miR-4700-3p	CLIP-seq
MIRT766605	hsa-miR-4722-5p	CLIP-seq
MIRT2167216	hsa-miR-4779	CLIP-seq
MIRT2167217	hsa-miR-485-3p	CLIP-seq
MIRT2167218	hsa-miR-548g	CLIP-seq
MIRT2167219	hsa-miR-708	CLIP-seq
MIRT2443154	hsa-miR-3149	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT2443155	hsa-miR-4735-5p	CLIP-seq
MIRT2443156	hsa-miR-4775	CLIP-seq
MIRT2443157	hsa-miR-483-5p	CLIP-seq
MIRT2443158	hsa-miR-590-3p	CLIP-seq
MIRT2443154	hsa-miR-3149	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT2443155	hsa-miR-4735-5p	CLIP-seq
MIRT2443156	hsa-miR-4775	CLIP-seq
MIRT2443157	hsa-miR-483-5p	CLIP-seq
MIRT2443158	hsa-miR-590-3p	CLIP-seq
MIRT2443154	hsa-miR-3149	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT2443155	hsa-miR-4735-5p	CLIP-seq
MIRT2443156	hsa-miR-4775	CLIP-seq
MIRT2443157	hsa-miR-483-5p	CLIP-seq
MIRT2443158	hsa-miR-590-3p	CLIP-seq
MIRT2443154	hsa-miR-3149	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT2443155	hsa-miR-4735-5p	CLIP-seq
MIRT2443156	hsa-miR-4775	CLIP-seq
MIRT2443157	hsa-miR-483-5p	CLIP-seq
MIRT2443158	hsa-miR-590-3p	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS	10417273
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	10417273
GO:0008270	Function	Zinc ion binding	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	TAS
GO:0030324	Process	Lung development	IEA
GO:0030574	Process	Collagen catabolic process	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0043588	Process	Skin development	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
604539	218	ENSG00000087116

O95450

Protein 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)

Protein function

Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01562	Pep_M12B_propep	57 → 212	Reprolysin family propeptide	Family
PF01421	Reprolysin	267 → 470	Reprolysin (M12B) family zinc metalloprotease	Domain
PF17771	ADAM_CR_2	482 → 551	ADAM cysteine-rich domain	Domain
PF00090	TSP_1	565 → 615	Thrombospondin type 1 domain	Domain
PF05986	ADAM_spacer1	723 → 837	ADAM-TS Spacer 1	Family
PF19030	TSP1_ADAMTS	858 → 913		Domain
PF19030	TSP1_ADAMTS	918 → 975		Domain
PF19030	TSP1_ADAMTS	979 → 1028		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain.

Sequence

MDPPAGAARRLLCPALLLLLLLLPPPLLPPPPPPANARLAAAADPPGGPLGHGAERILAV
PVRTDAQGRLVSHVVSAATSRAGVRARRAAPVRTPSFPGGNEEEPGSHLFYNVTVFGRDL
HLRLRPNARLVAPGATMEWQGEKGTTRVEPLLGSCLYVGDVAGLAEASSVALSNCDGLAG
LIRMEEEEFFIEPLEKGLAAQEAEQGRVHVVYRRPPTSPPLGGPQALDTGASLDSLDSLS
RALGVLEEHANSSRRRARRHAADDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNE
IYHDESLGAHINVVLVRIILLSYGKSMSLIEIGNPSQSLENVCRWAYLQQKPDTGHDEYH
DHAIFLTRQDFGPSGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDG
QGNRCGDEVRLGSIMAPLVQAAFHRFHWSRCSQQELSRYLHSYDCLLDDPFAHDWPALPQ
LPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTMCA
PGKHCFKGHCIWLTPDILKRDGSWGAWSPFGSCSRTCGTGVKFRTRQCDNPHPANGGRTC
SGLAYDFQLCSRQDCPDSLADFREEQCRQWDLYFEHGDAQHHWLPHEHRDAKERCHLYCE
SRETGEVVSMKRMVHDGTRCSYKDAFSLCVRGDCRKVGCDGVIGSSKQEDKCGVCGGDNS
HCKVVKGTFTRSPKKHGYIKMFEIPAGARHLLIQEVDATSHHLAVKNLETGKFILNEEND
VDASSKTFIAMGVEWEYRDEDGRETLQTMGPLHGTITVLVIPVGDTRVSLTYKYMIHEDS
LNVDDNNVLEEDSVVYEWALKKWSPCSKPCGGGSQFTKYGCRRRLDHKMVHRGFCAALSK
PKAIRRACNPQECSQPVWVTGEWEPCSQTCGRTGMQVRSVRCIQPLHDNTTRSVHAKHCN
DARPESRRACSRELCPGRWRAGPWSQCSVTCGNGTQERPVLCRTADDSFGICQEERPETA
RTCRLGPCPRNISDPSKKSYVVQWLSRPDPDSPIRKISSKGHCQGDKSIFCRMEVLSRYC
SIPGYNKLCCKSCNLYNNLTNVEGRIEPPPGKHNDIDVFMPTLPVPTVAMEVRPSPSTPL
EVPLNASSTNATEDHPETNAVDEPYKIHGLEDEVQPPNLIPRRPSPYEKTRNQRIQELID
EMRKKEMLGKF

Sequence length

1211

Interactions

View interactions

	Reactome
			Collagen biosynthesis and modifying enzymes Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins

1732

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ehlers-Danlos syndrome, dermatosparaxis type	Likely pathogenic; Pathogenic	rs2113200020, rs2113374735, rs1171795845, rs916172129, rs1417947464, rs2113218754, rs2113223246, rs1757906798, rs1182409555, rs2113513390, rs2113200198, rs1453785436, rs2127463432, rs2127463933, rs2113199896 View all (72 more)	RCV001375583 RCV001379916 RCV001383508 RCV001382331 RCV001385713 RCV003635961 RCV001563678 RCV001898525 RCV002022323 RCV001950844 RCV001892960 RCV002022641 RCV002000072 RCV001876832 RCV002042957 RCV001953508 RCV001958755 RCV002306525 RCV002306721 RCV002306723 RCV002309582 RCV002309625 RCV002309880 RCV002307886 RCV002307910 RCV002307993 RCV002308150 RCV002309274 RCV002309481 RCV002306894 RCV002307107 RCV002307268 RCV002310067 RCV002310154 RCV002310190 RCV002310375 RCV002308385 RCV002308426 RCV002470093 RCV002627481 RCV000005837 RCV000005838 RCV002876319 RCV002866358 RCV002871508 RCV002881802 RCV002872281 RCV003005979 RCV003017992 RCV003014732 RCV003038615 RCV003030613 RCV003044403 RCV003144800 RCV003523958 RCV003522336 RCV003523788 RCV003524545 RCV003524747 RCV003524827 RCV003636284 RCV003637297 RCV003637716 RCV003637770 RCV003637777 RCV003637847 RCV003637980 RCV003637981 RCV003636699 RCV003816073 RCV003845165 RCV003873555 RCV003989898 RCV003992059 RCV000411325 RCV002248814 RCV000672050 RCV000669797 RCV000705282 RCV000814825 RCV001039989 RCV001043723 RCV001051314 RCV001043591 RCV001037261 RCV001224756 RCV001216722 RCV001202920 RCV001245156

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance; Conflicting classifications of pathogenicity	rs148263300, rs142875628, rs776592829	RCV005919321 RCV005898991 RCV005899954
ADAMTS2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	rs548886013, rs375556579, rs142967783, rs374671543, rs142721501, rs377461767, rs780346183, rs758260638, rs139658049, rs376357664, rs1386741882, rs200868191, rs376058580, rs144732073, rs547548078 View all (25 more)	RCV003938674 RCV003920905 RCV003963268 RCV003908610 RCV003963277 RCV003955958 RCV003946182 RCV003938841 RCV003941031 RCV003958860 RCV003896063 RCV003913754 RCV004751418 RCV004751432 RCV003949958 RCV003902369 RCV004751493 RCV003950250 RCV003922556 RCV003970031 RCV003957824 RCV003418073 RCV003981644 RCV003967308 RCV003951826 RCV004751558 RCV004751594 RCV003979997 RCV003900198 RCV003892354 RCV003905749 RCV003965371 RCV003928099 RCV003945708 RCV003892771 RCV003955778 RCV004751775 RCV003926010 RCV003963149 RCV003898258
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs201998372	RCV005909136
Ehlers-Danlos syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs148263300, rs778523767, rs1196360635, rs752223388, rs769174562, rs2113214603, rs755490840, rs2113181904, rs746802388, rs780184702, rs1309222711, rs2113161364, rs1561761828, rs2127463883, rs2127463894 View all (56 more)	RCV002276829 RCV002276938 RCV002276977 RCV002277028 RCV002277628 RCV002277969 RCV002277975 RCV002278003 RCV002278007 RCV002278011 RCV002278013 RCV002278018 RCV002278021 RCV002278031 RCV002278038 RCV002278044 RCV002278047 RCV002278071 RCV002278072 RCV002278265 RCV002278586 RCV002278591 RCV002278600 RCV002278601 RCV002278603 RCV002278604 RCV002278605 RCV002278587 RCV002278588 RCV002278592 RCV002278596 RCV002278597 RCV002278598 RCV002278590 RCV002278593 RCV002278594 RCV002278602 RCV002278589 RCV002278595 RCV002278599 RCV002278606 RCV002278607 RCV002278646 RCV002278642 RCV002278675 RCV002279207 RCV002279184 RCV002279210 RCV002278653 RCV002279219 RCV002279244 RCV002279245 RCV002279357 RCV002279421 RCV002279443 RCV002279412 RCV002279388 RCV002279406 RCV002279390 RCV002279469 RCV002279470 RCV002279471 RCV002279475 RCV002279540 RCV002279536 RCV002279590 RCV002279592 RCV002279649 RCV002279652 RCV002279681 RCV002276604 RCV002276646 RCV002276674
Familial cancer of breast	Likely benign; Benign	rs181998896, rs144797464	RCV005915070 RCV005907177
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs144797464	RCV005907178
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs144797464	RCV005907179
Sarcoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs116237889, rs61320168, rs201998372	RCV005917611 RCV005923463 RCV005909137
See cases	Uncertain significance	rs377397368, rs367796431	RCV002253038 RCV002252103
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs776592829	RCV005899955
Uterine carcinosarcoma	Benign	rs2278222	RCV005895799
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs61320168, rs144797464	RCV005923464 RCV005907180

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia Telangiectasia	Associate	25515027
Cardiovascular Diseases	Associate	36182916
Colorectal Neoplasms	Associate	30081852, 36185995
Connective Tissue Diseases	Associate	24343133
Craniofacial Fibrous Dysplasia	Associate	25674217
Crohn Disease	Associate	37481583
Diabetes Mellitus Type 2	Associate	30649532, 36182916
Disease	Associate	25515027
Ehlers Danlos Syndrome	Associate	26765342
Ehlers Danlos Syndrome Type VII Autosomal Recessive	Associate	11408482, 12646579, 26765342
Fibrous Dysplasia of Bone	Stimulate	25674217
Hearing Loss	Associate	34758154
Keratoconus	Associate	30029277
Leukemia Biphenotypic Acute	Associate	25515027
Mesothelioma	Associate	23626673
Mesothelioma Malignant	Associate	23626673, 26139392
Muscular Dystrophy Duchenne	Associate	34922439
Myopia	Associate	29346494
Neoplasms	Associate	28854272
Osteoarthritis	Stimulate	14730609
Pancreatic Neoplasms	Associate	35879877
Pelvic Organ Prolapse	Associate	24343133
Schizophrenia	Associate	25522406
Squamous Cell Carcinoma of Head and Neck	Associate	28176846
Stroke	Associate	32817637

ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2)