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ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2)

Gene

ADAM metallopeptidase with thrombospondin type 1 motif 2

ADAMTS2

ADAM-TS2, ADAMTS-2, ADAMTS-3, EDSDERMS, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI

5

5q35.3

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(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0005576	Component	Extracellular region	TAS
GO:0007283	Process	Spermatogenesis	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	10417273
GO:0008270	Function	Zinc ion binding	IEA
GO:0016485	Process	Protein processing	IEA
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030324	Process	Lung development	IEA
GO:0030574	Process	Collagen catabolic process	IEA
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0043588	Process	Skin development	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	IEA

MIM	HGNC	e!Ensembl
604539	218	ENSG00000087116

Protein

UniProt ID

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

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

Associated diseases

Show/Hide Causal Diseases (4)

Causal
Disease name	Disease term	dbSNP ID	References
Dermatosparaxis ehlers-danlos syndrome	Dermatosparaxis Ehlers-Danlos syndrome, EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	rs137853146, rs137853147, rs1057517277, rs1554124086, rs1554125059, rs1554123627, rs966437723, rs1581302068, rs1762930637, rs1763406117, rs1763059235, rs1336175305, rs1764738425	8215497, 18973246, 10417273, 15389701, 7735500, 26765342, 1642226, 23495203, 8986271
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (20)

Unknown
Disease name	Disease term	dbSNP ID	References
Aphasia	Aphasia
Avascular necrosis of the capital femoral epiphysis	Avascular necrosis of the capital femoral epiphysis
Blepharochalasis	Blepharochalasis
Congenital epicanthus	Congenital Epicanthus
Congenital exomphalos	Congenital exomphalos
Dwarfism	Dwarfism
Dysphasia	Dysphasia
Eosinophilia	Esophagitis
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Gingival hyperkeratosis	Gingival hyperkeratosis
Hernia, femoral	Hernia, Femoral
Hiatal hernia	Hiatal Hernia
Hypodontia	Hypodontia
Legg-calve-perthes disease	Legg-Calve-Perthes Disease
Malignant mesothelioma	Malignant mesothelioma		26139392
Micrognathism	Micrognathism
Micromelia	Micromelia
Motor delay	Clumsiness - motor delay
Osteopenia	Osteopenia
Rickets	Rickets, Adult Rickets

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