ADAMTS16 (ADAM metallopeptidase with thrombospondin type 1 motif 16)

Gene

• Entrez ID: 170690
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 16
• Gene symbol: ADAMTS16
• Synonyms (NCBI Gene): ADAMTS16s
• Chromosome: 5
• Chromosome location: 5p15.32
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT018023	hsa-miR-335-5p	Microarray	18185580
MIRT766432	hsa-miR-1	CLIP-seq
MIRT766433	hsa-miR-1343	CLIP-seq
MIRT766434	hsa-miR-2052	CLIP-seq
MIRT766435	hsa-miR-206	CLIP-seq
MIRT766436	hsa-miR-296-3p	CLIP-seq
MIRT766437	hsa-miR-3065-3p	CLIP-seq
MIRT766438	hsa-miR-3171	CLIP-seq
MIRT766439	hsa-miR-3673	CLIP-seq
MIRT766440	hsa-miR-3687	CLIP-seq
MIRT766441	hsa-miR-4442	CLIP-seq
MIRT766442	hsa-miR-4490	CLIP-seq
MIRT766443	hsa-miR-4668-3p	CLIP-seq
MIRT766444	hsa-miR-4708-5p	CLIP-seq
MIRT766445	hsa-miR-4768-3p	CLIP-seq
MIRT766446	hsa-miR-4773	CLIP-seq
MIRT766447	hsa-miR-613	CLIP-seq
MIRT2167149	hsa-miR-128	CLIP-seq
MIRT2167150	hsa-miR-27a	CLIP-seq
MIRT2167151	hsa-miR-27b	CLIP-seq
MIRT2167152	hsa-miR-3155	CLIP-seq
MIRT2167153	hsa-miR-3155b	CLIP-seq
MIRT2167154	hsa-miR-4284	CLIP-seq
MIRT2167155	hsa-miR-484	CLIP-seq
MIRT2167156	hsa-miR-494	CLIP-seq
MIRT2425982	hsa-miR-142-5p	CLIP-seq
MIRT2425983	hsa-miR-216b	CLIP-seq
MIRT2425984	hsa-miR-3163	CLIP-seq
MIRT2425985	hsa-miR-4803	CLIP-seq
MIRT2425986	hsa-miR-548a-5p	CLIP-seq
MIRT2425987	hsa-miR-548ab	CLIP-seq
MIRT2425988	hsa-miR-548ak	CLIP-seq
MIRT2425989	hsa-miR-548b-5p	CLIP-seq
MIRT2425990	hsa-miR-548c-3p	CLIP-seq
MIRT2425991	hsa-miR-548c-5p	CLIP-seq
MIRT2425992	hsa-miR-548d-5p	CLIP-seq
MIRT2425993	hsa-miR-548h	CLIP-seq
MIRT2425994	hsa-miR-548i	CLIP-seq
MIRT2425995	hsa-miR-548j	CLIP-seq
MIRT2425996	hsa-miR-548k	CLIP-seq
MIRT2425997	hsa-miR-548l	CLIP-seq
MIRT2425998	hsa-miR-548w	CLIP-seq
MIRT2425999	hsa-miR-548y	CLIP-seq
MIRT2426000	hsa-miR-559	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0003073	Process	Regulation of systemic arterial blood pressure	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048232	Process	Male gamete generation	IEA
GO:1902017	Process	Regulation of cilium assembly	IEA

Other IDs

• MIM: 607510
• HGNC: 17108
• e!Ensembl: ENSG00000145536

Protein

• UniProt ID: Q8TE57
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 16 (ADAM-TS 16) (ADAM-TS16) (ADAMTS-16) (EC 3.4.24.-)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	61 → 205	Reprolysin family propeptide	Family
  PF01421	Reprolysin	291 → 495	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF17771	ADAM_CR_2	508 → 575	ADAM cysteine-rich domain	Domain
  PF00090	TSP_1	590 → 640	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	746 → 858	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	931 → 986		Domain
  PF19030	TSP1_ADAMTS	990 → 1047		Domain
  PF19030	TSP1_ADAMTS	1055 → 1114		Domain
  PF19030	TSP1_ADAMTS	1130 → 1180		Domain
  PF08686	PLAC	1190 → 1220	PLAC (protease and lacunin) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal lung and kidney and in adult prostate and ovary.
• Sequence:

  MKPRARGWRGLAALWMLLAQVAEQAPACAMGPAAAAPGSPSVPRPPPPAERPGWMEKGEY
  DLVSAYEVDHRGDYVSHEIMHHQRRRRAVPVSEVESLHLRLKGSRHDFHMDLRTSSSLVA
  PGFIVQTLGKTGTKSVQTLPPEDFCFYQGSLRSHRNSSVALSTCQGLSGMIRTEEADYFL
  RPLPSHLSWKLGRAAQGSSPSHVLYKRSTEPHAPGASEVLVTSRTWELAHQPLHSSDLRL
  GLPQKQHFCGRRKKYMPQPPKEDLFILPDEYKSCLRHKRSLLRSHRNEELNVETLVVVDK
  KMMQNHGHENITTYVLTILNMVSALFKDGTIGGNINIAIVGLILLEDEQPGLVISHHADH
  TLSSFCQWQSGLMGKDGTRHDHAILLTGLDICSWKNEPCDTLGFAPISGMCSKYRSCTIN
  EDTGLGLAFTIAHESGHNFGMIHDGEGNMCKKSEGNIMSPTLAGRNGVFSWSPCSRQYLH
  KFLSTAQAICLADQPKPVKEYKYPEKLPGELYDANTQCKWQFGEKAKLCMLDFKKDICKA
  LWCHRIGRKCETKFMPAAEGTICGHDMWCRGGQCVKYGDEGPKPTHGHWSDWSSWSPCSR
  TCGGGVSHRSRLCTNPKPSHGGKFCEGSTRTLKLCNSQKCPRDSVDFRAAQCAEHNSRRF
  RGRHYKWKPYTQVEDQDLCKLYCIAEGFDFFFSLSNKVKDGTPCSEDSRNVCIDGICERV
  GCDNVLGSDAVEDVCGVCNGNNSACTIHRGLYTKHHHTNQYYHMVTIPSGARSIRIYEMN
  VSTSYISVRNALRRYYLNGHWTVDWPGRYKFSGTTFDYRRSYNEPENLIATGPTNETLIV
  ELLFQGRNPGVAWEYSMPRLGTEKQPPAQPSYTWAIVRSECSVSCGGGQMTVREGCYRDL
  KFQVNMSFCNPKTRPVTGLVPCKVSACPPSWSVGNWSACSRTCGGGAQSRPVQCTRRVHY
  DSEPVPASLCPQPAPSSRQACNSQSCPPAWSAGPWAECSHTCGKGWRKRAVACKSTNPSA
  RAQLLPDAVCTSEPKPRMHEACLLQRCHKPKKLQWLVSAWSQCSVTCERGTQKRFLKCAE
  KYVSGKYRELASKKCSHLPKPSLELERACAPLPCPRHPPFAAAGPSRGSWFASPWSQCTA
  SCGGGVQTRSVQCLAGGRPASGCLLHQKPSASLACNTHFCPIAEKKDAFCKDYFHWCYLV
  PQHGMCSHKFYGKQCCKTCSKSNL

• Sequence length: 1224

Pathways

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
46,XY disorder of sex development	Likely pathogenic	rs2477356200	RCV003126298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	24039173		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36232317	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	19635554, 26181853		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	26181853	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30081852		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30081852	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31297506		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	14730609, 19635554, 31748609		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	20128818		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	20128818		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	20128818	Stimulate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASDB_DG	22428042		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31297506		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19423552, 31748609		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30081852	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy retinal 1 North Carolina type	Macular dystrophy	Pubtator	28790370	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	24039173		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	20128818		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30081852		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	14730609	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	24366283		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	30557369		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	24366283		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	24039173		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	20128818		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36232317	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	24039173		★☆☆☆☆ Found in Text Mining only