Gene Gene information from NCBI Gene database.
Entrez ID 11096
Gene name ADAM metallopeptidase with thrombospondin type 1 motif 5
Gene symbol ADAMTS5
Synonyms (NCBI Gene)
ADAM-TS 11ADAM-TS 5ADAM-TS5ADAMTS-11ADAMTS-5ADAMTS11ADMP-2
Chromosome 21
Chromosome location 21q21.3
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
miRNA miRNA information provided by mirtarbase database.
644
miRTarBase ID miRNA Experiments Reference
MIRT027846 hsa-miR-98-5p Microarray 19088304
MIRT613357 hsa-miR-1283 HITS-CLIP 19536157
MIRT613356 hsa-miR-155-3p HITS-CLIP 19536157
MIRT613355 hsa-miR-3685 HITS-CLIP 19536157
MIRT613354 hsa-miR-384 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SIRT1 Repression 21337390
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0003180 Process Aortic valve morphogenesis IEA
GO:0003180 Process Aortic valve morphogenesis ISS
GO:0003184 Process Pulmonary valve morphogenesis IEA
GO:0003184 Process Pulmonary valve morphogenesis ISS
GO:0003203 Process Endocardial cushion morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605007 221 ENSG00000154736
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UNA0
Protein name A disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAM-TS 5) (ADAM-TS5) (ADAMTS-5) (EC 3.4.24.-) (A disintegrin and metalloproteinase with thrombospondin motifs 11) (ADAM-TS 11) (ADAMTS-11) (ADMP-2) (Aggrecanase-2)
Protein function Metalloproteinase that plays an important role in connective tissue organization, development, inflammation and cell migration. Extracellular matrix (ECM) degrading enzyme that show proteolytic activity toward the hyalectan group of chondroitin
PDB 2RJQ , 3B8Z , 3HY7 , 3HY9 , 3HYG , 3LJT , 6YJM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 38 182 Reprolysin family propeptide Family
PF01421 Reprolysin 267 476 Reprolysin (M12B) family zinc metalloprotease Domain
PF17771 ADAM_CR_2 487 554 ADAM cysteine-rich domain Domain
PF00090 TSP_1 571 621 Thrombospondin type 1 domain Domain
PF05986 ADAM_spacer1 732 852 ADAM-TS Spacer 1 Family
PF19030 TSP1_ADAMTS 879 930 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at low level in placenta primarily but also detected in heart and brain, cervix, uterus, bladder, esophagus, rib cartilage, chondroblastoma, fibrous tissue and a joint capsule from an arthritic patient.
Sequence
MLLGWASLLLCAFRLPLAAVGPAATPAQDKAGQPPTAAAAAQPRRRQGEEVQERAEPPGH
PHPLAQRRRSKGLVQNIDQLYSGGGKVGYLVYAGGRRFLLDLERDGSVGIAGFVPAGGGT
SAPWRHRSHCFYRGTVDGSPRSLAVFDLCGGLDGFFAVKHARYTLKPLLRGPWAEEEKGR
VY
GDGSARILHVYTREGFSFEALPPRASCETPASTPEAHEHAPAHSNPSGRAALASQLLD
QSALSPAGGSGPQTWWRRRRRSISRARQVELLLVADASMARLYGRGLQHYLLTLASIANR
LYSHASIENHIRLAVVKVVVLGDKDKSLEVSKNAATTLKNFCKWQHQHNQLGDDHEEHYD
AAILFTREDLCGHHSCDTLGMADVGTICSPERSCAVIEDDGLHAAFTVAHEIGHLLGLSH
DDSKFCEETFGSTEDKRLMSSILTSIDASKPWSKCTSATITEFLDDGHGNCLLDLP
RKQI
LGPEELPGQTYDATQQCNLTFGPEYSVCPGMDVCARLWCAVVRQGQMVCLTKKLPAVEGT
PCGKGRICLQGKCV
DKTKKKYYSTSSHGNWGSWGSWGQCSRSCGGGVQFAYRHCNNPAPR
NNGRYCTGKRAIYRSCSLMPC
PPNGKSFRHEQCEAKNGYQSDAKGVKTFVEWVPKYAGVL
PADVCKLTCRAKGTGYYVVFSPKVTDGTECRLYSNSVCVRGKCVRTGCDGIIGSKLQYDK
CGVCGGDNSSCTKIVGTFNKKSKGYTDVVRIPEGATHIKVRQFKAKDQTRFTAYLALKKK
NGEYLINGKYMISTSETIIDINGTVMNYSGWSHRDDFLHGMGYSATKEILIVQILATDPT
KPLDVRYSFFVP
KKSTPKVNSVTSHGSNKVGSHTSQPQWVTGPWLACSRTCDTGWHTRTV
QCQDGNRKLAKGCPLSQRPSAFKQCLLKKC
Sequence length 930
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Degradation of the extracellular matrix
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aortic Aneurysm Aortic Aneurysm BEFREE 29622560
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 31473210 Inhibit
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 31473210
★☆☆☆☆
Found in Text Mining only
Aortic Diseases Aortic disease Pubtator 28546218 Inhibit
★☆☆☆☆
Found in Text Mining only
Aortic valve disorder Aortic Valve Disease BEFREE 28546218
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 22493487
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 29720262, 31484722
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 31484722 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 27706574, 31484722 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35955467 Stimulate
★☆☆☆☆
Found in Text Mining only