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	9508
Gene name	ADAM metallopeptidase with thrombospondin type 1 motif 3
Gene symbol	ADAMTS3
Synonyms (NCBI Gene)	ADAMTS-4HKLLS3
Chromosome	4
Chromosome location	4q13.3
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 (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61757480	A>G	Pathogenic	Missense variant, coding sequence variant
rs747975445	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1177851177	A>G	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (50)

miRTarBase ID	miRNA	Experiments
MIRT766617	hsa-miR-147	CLIP-seq
MIRT766618	hsa-miR-185	CLIP-seq
MIRT766619	hsa-miR-2054	CLIP-seq
MIRT766620	hsa-miR-219-1-3p	CLIP-seq
MIRT766621	hsa-miR-30a	CLIP-seq
MIRT766622	hsa-miR-30b	CLIP-seq
MIRT766623	hsa-miR-30c	CLIP-seq
MIRT766624	hsa-miR-30d	CLIP-seq
MIRT766625	hsa-miR-30e	CLIP-seq
MIRT766626	hsa-miR-3140-3p	CLIP-seq
MIRT766627	hsa-miR-3149	CLIP-seq
MIRT766628	hsa-miR-3171	CLIP-seq
MIRT766629	hsa-miR-3688-3p	CLIP-seq
MIRT766630	hsa-miR-380	CLIP-seq
MIRT766631	hsa-miR-411	CLIP-seq
MIRT766632	hsa-miR-4254	CLIP-seq
MIRT766633	hsa-miR-4261	CLIP-seq
MIRT766634	hsa-miR-4292	CLIP-seq
MIRT766635	hsa-miR-4306	CLIP-seq
MIRT766636	hsa-miR-4308	CLIP-seq
MIRT766637	hsa-miR-4328	CLIP-seq
MIRT766638	hsa-miR-452	CLIP-seq
MIRT766639	hsa-miR-4644	CLIP-seq
MIRT766640	hsa-miR-4676-3p	CLIP-seq
MIRT766641	hsa-miR-4715-5p	CLIP-seq
MIRT766642	hsa-miR-4731-3p	CLIP-seq
MIRT766643	hsa-miR-4738-3p	CLIP-seq
MIRT766644	hsa-miR-4801	CLIP-seq
MIRT766645	hsa-miR-501-3p	CLIP-seq
MIRT766646	hsa-miR-502-3p	CLIP-seq
MIRT766647	hsa-miR-505	CLIP-seq
MIRT766648	hsa-miR-548g	CLIP-seq
MIRT766649	hsa-miR-571	CLIP-seq
MIRT766650	hsa-miR-591	CLIP-seq
MIRT766651	hsa-miR-599	CLIP-seq
MIRT766652	hsa-miR-647	CLIP-seq
MIRT766629	hsa-miR-3688-3p	CLIP-seq
MIRT766619	hsa-miR-2054	CLIP-seq
MIRT766638	hsa-miR-452	CLIP-seq
MIRT766640	hsa-miR-4676-3p	CLIP-seq
MIRT766617	hsa-miR-147	CLIP-seq
MIRT2167220	hsa-miR-202	CLIP-seq
MIRT766629	hsa-miR-3688-3p	CLIP-seq
MIRT766633	hsa-miR-4261	CLIP-seq
MIRT766638	hsa-miR-452	CLIP-seq
MIRT766640	hsa-miR-4676-3p	CLIP-seq
MIRT766643	hsa-miR-4738-3p	CLIP-seq
MIRT766648	hsa-miR-548g	CLIP-seq
MIRT766651	hsa-miR-599	CLIP-seq
MIRT2167221	hsa-miR-875-3p	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0004175	Function	Endopeptidase activity	IDA	24552833
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	NAS	11812023
GO:0004222	Function	Metalloendopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	24552833, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	24552833
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	NAS	11408482
GO:0010573	Process	Vascular endothelial growth factor production	IDA	24552833
GO:0016485	Process	Protein processing	IDA	11408482, 24552833
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	IC	11408482
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	NAS	11812023
GO:0030199	Process	Collagen fibril organization	TAS
GO:0030574	Process	Collagen catabolic process	NAS	11408482
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	NAS	11812023
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0032964	Process	Collagen biosynthetic process	IDA	11408482
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0097435	Process	Supramolecular fiber organization	IC	11408482
GO:1900748	Process	Positive regulation of vascular endothelial growth factor signaling pathway	IDA	24552833

MIM	HGNC	e!Ensembl
605011	219	ENSG00000156140

O15072

Protein name

A disintegrin and metalloproteinase with thrombospondin motifs 3 (ADAM-TS 3) (ADAM-TS3) (ADAMTS-3) (EC 3.4.24.-) (Procollagen II N-proteinase) (PC II-NP) (Procollagen II amino propeptide-processing enzyme)

Protein function

Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01562	Pep_M12B_propep	43 → 201	Reprolysin family propeptide	Family
PF01421	Reprolysin	257 → 460	Reprolysin (M12B) family zinc metalloprotease	Domain
PF17771	ADAM_CR_2	472 → 541	ADAM cysteine-rich domain	Domain
PF00090	TSP_1	553 → 605	Thrombospondin type 1 domain	Domain
PF05986	ADAM_spacer1	713 → 827	ADAM-TS Spacer 1	Family
PF19030	TSP1_ADAMTS	849 → 904		Domain
PF19030	TSP1_ADAMTS	909 → 966		Domain
PF19030	TSP1_ADAMTS	970 → 1015		Domain

Tissue specificity

TISSUE SPECIFICITY: Found in cartilage and skin.

Sequence

MVLLSLWLIAAALVEVRTSADGQAGNEEMVQIDLPIKRYREYELVTPVSTNLEGRYLSHT
LSASHKKRSARDVSSNPEQLFFNITAFGKDFHLRLKPNTQLVAPGAVVEWHETSLVPGNI
TDPINNHQPGSATYRIRRTEPLQTNCAYVGDIVDIPGTSVAISNCDGLAGMIKSDNEEYF
IEPLERGKQMEEEKGRIHVVYKRSAVEQAPIDMSKDFHYRESDLEGLDDLGTVYGNIHQQ
LNETMRRRRHAGENDYNIEVLLGVDDSVVRFHGKEHVQNYLLTLMNIVNEIYHDESLGVH
INVVLVRMIMLGYAKSISLIERGNPSRSLENVCRWASQQQRSDLNHSEHHDHAIFLTRQD
FGPAGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDGQGNRCGDETA
MGSVMAPLVQAAFHRYHWSRCSGQELKRYIHSYDCLLDDPFDHDWPKLPELPGINYSMDE
QCRFDFGVGYKMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTECAAGKWCYKGHC
MWKNANQQKQDGNWGSWTKFGSCSRTCGTGVRFRTRQCNNPMPINGGQDCPGVNFEYQLC
NTEECQKHFEDFRAQQCQQRNSHFEYQNTKHHWLPYEHPDPKKRCHLYCQSKETGDVAYM
KQLVHDGTHCSYKDPYSICVRGECVKVGCDKEIGSNKVEDKCGVCGGDNSHCRTVKGTFT
RTPRKLGYLKMFDIPPGARHVLIQEDEASPHILAIKNQATGHYILNGKGEEAKSRTFIDL
GVEWDYNIEDDIESLHTDGPLHDPVIVLIIPQENDTRSSLTYKYIIHEDSVPTINSNNVI
QEELDTFEWALKSWSQCSKPCGGGFQYTKYGCRRKSDNKMVHRSFCEANKKPKPIRRMCN
IQECTHPLWVAEEWEHCTKTCGSSGYQLRTVRCLQPLLDGTNRSVHSKYCMGDRPESRRP
CNRVPCPAQWKTGPWSECSVTCGEGTEVRQVLCRAGDHCDGEKPESVRACQLPPCNDEPC
LGDKSIFCQMEVLARYCSIPGYNKLCCESCSKRSSTLPPPYLLEAAETHDDVISNPSDLP
RSLVMPTSLVPYHSETPAKKMSLSSISSVGGPNAYAAFRPNSKPDGANLRQRSAQQAGSK
TVRLVTVPSSPPTKRVHLSSASQMAAASFFAASDSIGASSQARTSKKDGKIIDNRRPTRS
STLER

Sequence length

1205

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hennekam lymphangiectasia-lymphedema syndrome 3	Pathogenic	rs1177851177, rs61757480, rs747975445	RCV000714297 RCV000714298 RCV000770924

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ADAMTS3-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs788908, rs35584754, rs148581726, rs141374503, rs147002650, rs200345422, rs201628279, rs756853314, rs139921635, rs369504290, rs33925079, rs188872063, rs373627945, rs771401796, rs558987647 View all (11 more)	RCV003980684 RCV003960991 RCV003954188 RCV003954189 RCV003966406 RCV003946599 RCV003946600 RCV003896502 RCV003921853 RCV003981508 RCV003979802 RCV003899465 RCV003911674 RCV003962144 RCV003931611 RCV003927076 RCV003937146 RCV003946871 RCV003979014 RCV003976628 RCV003962246 RCV003960807 RCV003972860 RCV003930778 RCV003923170 RCV003960713
Clear cell carcinoma of kidney	Benign	rs150270324	RCV005906394
Gastric cancer	Benign	rs150270324	RCV005906396
Melanoma	Benign	rs150270324	RCV005906399
Ovarian serous cystadenocarcinoma	Benign	rs150270324	RCV005906397
Prostate cancer	Uncertain significance	rs193921131	RCV000149207
Sarcoma	Benign	rs150270324	RCV005906395
Thyroid cancer, nonmedullary, 1	Benign	rs150270324	RCV005906398

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Habitual	Associate	28088271
Abortion Spontaneous	Associate	28088271
Breast Neoplasms	Associate	25261644
Carcinogenesis	Associate	36514188
Carcinoma Non Small Cell Lung	Associate	37045997
Chondrosarcoma	Associate	11408482
Ehlers Danlos Syndrome Type VII Autosomal Recessive	Associate	11408482
Glioblastoma	Associate	36514188
Glioma	Associate	36514188
Growth Disorders	Associate	32299451
Heart Defects Congenital	Associate	32299451
Hennekam lymphangiectasia lymphedema syndrome	Associate	28985353, 37322437
Intellectual Disability	Associate	32299451
Keratoconus	Associate	32867823
Lymphedema	Associate	28985353, 37322437
Melanoma Cutaneous Malignant	Associate	28796414
Metabolic Diseases	Associate	29084231
Neoplasms	Associate	36514188, 37045997
Osteoarthritis	Associate	15708897

ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3)