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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9509
Gene name Gene Name - the full gene name approved by the HGNC.	ADAM metallopeptidase with thrombospondin type 1 motif 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADAMTS2
Synonyms (NCBI Gene) Gene synonyms aliases	ADAM-TS2, ADAMTS-2, ADAMTS-3, EDSDERMS, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dermatosparaxis Ehlers-Danlos Syndrome	ehlers-danlos syndrome, dermatosparaxis type	rs1763059235, rs137853146, rs1336175305, rs137853147, rs1764738425, rs1057517277, rs1554124086, rs1554125059, rs1554123627, rs966437723, rs1581302068, rs1762930637, rs1763406117	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Ehlers-Danlos Syndrome	ehlers-danlos syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)