Gene Gene information from NCBI Gene database.
Entrez ID 170689
Gene name ADAM metallopeptidase with thrombospondin type 1 motif 15
Gene symbol ADAMTS15
Synonyms (NCBI Gene)
DA12
Chromosome 11
Chromosome location 11q24.3
Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri
miRNA miRNA information provided by mirtarbase database.
117
miRTarBase ID miRNA Experiments Reference
MIRT723925 hsa-miR-6858-3p HITS-CLIP 19536157
MIRT723924 hsa-miR-208a-5p HITS-CLIP 19536157
MIRT723923 hsa-miR-208b-5p HITS-CLIP 19536157
MIRT723922 hsa-miR-6723-5p HITS-CLIP 19536157
MIRT723921 hsa-miR-4540 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IEA
GO:0004175 Function Endopeptidase activity ISS
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607509 16305 ENSG00000166106
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TE58
Protein name A disintegrin and metalloproteinase with thrombospondin motifs 15 (ADAM-TS 15) (ADAM-TS15) (ADAMTS-15) (EC 3.4.24.-)
Protein function Metalloprotease which has proteolytic activity against the proteoglycan VCAN, cleaving it at the 'Glu-1428-|-1429-Ala' site. Cleaves VCAN in the pericellular matrix surrounding myoblasts, facilitating myoblast contact and fusion which is require
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep 24 157 Reprolysin family propeptide Family
PF01421 Reprolysin 218 427 Reprolysin (M12B) family zinc metalloprotease Domain
PF17771 ADAM_CR_2 438 505 ADAM cysteine-rich domain Domain
PF00090 TSP_1 520 570 Thrombospondin type 1 domain Domain
PF05986 ADAM_spacer1 683 801 ADAM-TS Spacer 1 Family
PF19030 TSP1_ADAMTS 843 894 Domain
PF19030 TSP1_ADAMTS 897 950 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal liver and kidney, but not in any of the adult tissues examined. {ECO:0000269|PubMed:11867212}.
Sequence
MLLLGILTLAFAGRTAGGSEPEREVVVPIRLDPDINGRRYYWRGPEDSGDQGLIFQITAF
QEDFYLHLTPDAQFLAPAFSTEHLGVPLQGLTGGSSDLRRCFYSGDVNAEPDSFAAVSLC
GGLRGAFGYRGAEYVISPLPNASAPAAQRNSQGAHLL
QRRGVPGGPSGDPTSRCGVASGW
NPAILRALDPYKPRRAGFGESRSRRRSGRAKRFVSIPRYVETLVVADESMVKFHGADLEH
YLLTLLATAARLYRHPSILNPINIVVVKVLLLRDRDSGPKVTGNAALTLRNFCAWQKKLN
KVSDKHPEYWDTAILFTRQDLCGATTCDTLGMADVGTMCDPKRSCSVIEDDGLPSAFTTA
HELGHVFNMPHDNVKVCEEVFGKLRANHMMSPTLIQIDRANPWSACSAAIITDFLDSGHG
DCLLDQP
SKPISLPEDLPGASYTLSQQCELAFGVGSKPCPYMQYCTKLWCTGKAKGQMVC
QTRHFPWADGTSCGEGKLCLKGACV
ERHNLNKHRVDGSWAKWDPYGPCSRTCGGGVQLAR
RQCTNPTPANGGKYCEGVRVKYRSCNLEPC
PSSASGKSFREEQCEAFNGYNHSTNRLTLA
VAWVPKYSGVSPRDKCKLICRANGTGYFYVLAPKVVDGTLCSPDSTSVCVQGKCIKAGCD
GNLGSKKRFDKCGVCGGDNKSCKKVTGLFTKPMHGYNFVVAIPAGASSIDIRQRGYKGLI
GDDNYLALKNSQGKYLLNGHFVVSAVERDLVVKGSLLRYSGTGTAVESLQASRPILEPLT
VEVLSVGKMTPPRVRYSFYLP
KEPREDKSSHPKDPRGPSVLHNSVLSLSNQVEQPDDRPP
ARWVAGSWGPCSASCGSGLQKRAVDCRGSAGQRTVPACDAAHRPVETQACGEPCPTWELS
AWSPCSKSCGRGFQRRSLKCVGHGGRLLARDQCNLHRKPQELDFCVLRPC
Sequence length 950
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    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.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Arthrogryposis, distal, type 12 Pathogenic; Likely pathogenic rs2541520331, rs900442449, rs754451064, rs2541545118 RCV003337697
RCV003337698
RCV003337699
RCV003337700
★★★★☆
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
ARTHROGRYPOSIS, DISTAL, TYPE 2B Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISTAL ARTHROGRYPOSIS SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
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
Asthma Asthma Pubtator 17088949 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16152618
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 36354023 Associate
★☆☆☆☆
Found in Text Mining only
Cartilage Diseases Cartilage disease Pubtator 18671975 Associate
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 37798683 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 19458070
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 19458070, 19844170
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 14730609
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 36339449 Associate
★☆☆☆☆
Found in Text Mining only