Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56999
Gene name	ADAM metallopeptidase with thrombospondin type 1 motif 9
Gene symbol	ADAMTS9
Synonyms (NCBI Gene)	-
Chromosome	3
Chromosome location	3p14.1
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

101

Show/Hide all (101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005668	hsa-miR-29a-3p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCR	20971881
MIRT005668	hsa-miR-29a-3p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCR	20971881
MIRT005668	hsa-miR-29a-3p	Luciferase reporter assayMicroarrayNorthern blotqRT-PCR	20971881
MIRT707548	hsa-miR-8485	HITS-CLIP	21572407
MIRT707547	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT707546	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT707545	hsa-miR-603	HITS-CLIP	21572407
MIRT707544	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707543	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707542	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT707541	hsa-miR-567	HITS-CLIP	21572407
MIRT707540	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT707539	hsa-miR-3941	HITS-CLIP	21572407
MIRT707538	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707537	hsa-miR-3924	HITS-CLIP	21572407
MIRT707536	hsa-miR-297	HITS-CLIP	21572407
MIRT545145	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT545144	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT545142	hsa-miR-3609	PAR-CLIP	21572407
MIRT545143	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT545141	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT545139	hsa-miR-5688	PAR-CLIP	21572407
MIRT545140	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT545138	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT545137	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT545136	hsa-miR-183-3p	PAR-CLIP	21572407
MIRT736653	hsa-miR-372-3p	Luciferase reporter assayWestern blottingqRT-PCR	31637209
MIRT707548	hsa-miR-8485	HITS-CLIP	21572407
MIRT707547	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT707546	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT707545	hsa-miR-603	HITS-CLIP	21572407
MIRT707544	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT707543	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707542	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT707541	hsa-miR-567	HITS-CLIP	21572407
MIRT707540	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT707539	hsa-miR-3941	HITS-CLIP	21572407
MIRT707538	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707537	hsa-miR-3924	HITS-CLIP	21572407
MIRT707536	hsa-miR-297	HITS-CLIP	21572407
MIRT545145	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT545144	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT545142	hsa-miR-3609	PAR-CLIP	21572407
MIRT545143	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT545141	hsa-miR-495-3p	PAR-CLIP	21572407
MIRT545139	hsa-miR-5688	PAR-CLIP	21572407
MIRT545140	hsa-miR-7-1-3p	PAR-CLIP	21572407
MIRT545138	hsa-miR-7-2-3p	PAR-CLIP	21572407
MIRT545137	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT545136	hsa-miR-183-3p	PAR-CLIP	21572407
MIRT766802	hsa-miR-1207-5p	CLIP-seq
MIRT766803	hsa-miR-1258	CLIP-seq
MIRT766804	hsa-miR-1468	CLIP-seq
MIRT766805	hsa-miR-204	CLIP-seq
MIRT766806	hsa-miR-211	CLIP-seq
MIRT766807	hsa-miR-3152-3p	CLIP-seq
MIRT766808	hsa-miR-330-3p	CLIP-seq
MIRT766809	hsa-miR-3610	CLIP-seq
MIRT766810	hsa-miR-3925-3p	CLIP-seq
MIRT766811	hsa-miR-3934	CLIP-seq
MIRT766812	hsa-miR-4253	CLIP-seq
MIRT766813	hsa-miR-4287	CLIP-seq
MIRT766814	hsa-miR-4326	CLIP-seq
MIRT766815	hsa-miR-4422	CLIP-seq
MIRT766816	hsa-miR-4427	CLIP-seq
MIRT766817	hsa-miR-4432	CLIP-seq
MIRT766818	hsa-miR-4446-5p	CLIP-seq
MIRT766819	hsa-miR-4680-3p	CLIP-seq
MIRT766820	hsa-miR-4685-3p	CLIP-seq
MIRT766821	hsa-miR-4691-5p	CLIP-seq
MIRT766822	hsa-miR-4694-5p	CLIP-seq
MIRT766823	hsa-miR-4717-3p	CLIP-seq
MIRT766824	hsa-miR-4756-3p	CLIP-seq
MIRT766825	hsa-miR-4763-3p	CLIP-seq
MIRT766826	hsa-miR-515-5p	CLIP-seq
MIRT766827	hsa-miR-548n	CLIP-seq
MIRT766828	hsa-miR-548t	CLIP-seq
MIRT766829	hsa-miR-548u	CLIP-seq
MIRT766830	hsa-miR-570	CLIP-seq
MIRT766831	hsa-miR-609	CLIP-seq
MIRT766832	hsa-miR-766	CLIP-seq
MIRT766833	hsa-miR-888	CLIP-seq
MIRT1925891	hsa-miR-1252	CLIP-seq
MIRT1925892	hsa-miR-224	CLIP-seq
MIRT1925893	hsa-miR-4709-3p	CLIP-seq
MIRT1925894	hsa-miR-4731-3p	CLIP-seq
MIRT1925895	hsa-miR-4801	CLIP-seq
MIRT1925896	hsa-miR-499-3p	CLIP-seq
MIRT1925897	hsa-miR-499a-3p	CLIP-seq
MIRT1925891	hsa-miR-1252	CLIP-seq
MIRT2167273	hsa-miR-1279	CLIP-seq
MIRT2167274	hsa-miR-9	CLIP-seq
MIRT2167274	hsa-miR-9	CLIP-seq
MIRT2469882	hsa-miR-4666-3p	CLIP-seq
MIRT2469883	hsa-miR-4729	CLIP-seq
MIRT1925896	hsa-miR-499-3p	CLIP-seq
MIRT1925897	hsa-miR-499a-3p	CLIP-seq
MIRT2469884	hsa-miR-651	CLIP-seq
MIRT1925896	hsa-miR-499-3p	CLIP-seq
MIRT1925897	hsa-miR-499a-3p	CLIP-seq
MIRT2469884	hsa-miR-651	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003179	Process	Heart valve morphogenesis	ISS
GO:0003229	Process	Ventricular cardiac muscle tissue development	ISS
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	12514189
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IDA	12514189
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	10936055
GO:0008270	Function	Zinc ion binding	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010596	Process	Negative regulation of endothelial cell migration	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	ISS
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	12514189
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0045636	Process	Positive regulation of melanocyte differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048070	Process	Regulation of developmental pigmentation	IEA
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0061303	Process	Cornea development in camera-type eye	IEA
GO:0090673	Process	Endothelial cell-matrix adhesion	ISS
GO:1903671	Process	Negative regulation of sprouting angiogenesis	ISS

MIM	HGNC	e!Ensembl
605421	13202	ENSG00000163638

Q9P2N4

Protein name

A disintegrin and metalloproteinase with thrombospondin motifs 9 (ADAM-TS 9) (ADAM-TS9) (ADAMTS-9) (EC 3.4.24.-)

Protein function

Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428-Glu-|-Ala-1429' site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golg

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01562	Pep_M12B_propep	49 → 207	Reprolysin family propeptide	Family
PF01421	Reprolysin	293 → 499	Reprolysin (M12B) family zinc metalloprotease	Domain
PF17771	ADAM_CR_2	511 → 578	ADAM cysteine-rich domain	Domain
PF00090	TSP_1	591 → 642	Thrombospondin type 1 domain	Domain
PF05986	ADAM_spacer1	753 → 871	ADAM-TS Spacer 1	Family
PF19030	TSP1_ADAMTS	939 → 996		Domain
PF19030	TSP1_ADAMTS	1001 → 1053		Domain
PF19030	TSP1_ADAMTS	1056 → 1108		Domain
PF19030	TSP1_ADAMTS	1111 → 1165		Domain
PF19030	TSP1_ADAMTS	1186 → 1239		Domain
PF19030	TSP1_ADAMTS	1242 → 1295		Domain
PF19030	TSP1_ADAMTS	1332 → 1383		Domain
PF19030	TSP1_ADAMTS	1386 → 1439		Domain
PF19030	TSP1_ADAMTS	1445 → 1498		Domain
PF19030	TSP1_ADAMTS	1501 → 1554		Domain
PF19030	TSP1_ADAMTS	1559 → 1612		Domain
PF19030	TSP1_ADAMTS	1616 → 1675		Domain
PF19030	TSP1_ADAMTS	1681 → 1733		Domain
PF08685	GON	1736 → 1934	GON domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in all fetal tissues. Expressed in a number of adult tissues with highest expression in heart, placenta and skeletal muscle. {ECO:0000269|PubMed:12514189}.

Sequence

MQFVSWATLLTLLVRDLAEMGSPDAAAAVRKDRLHPRQVKLLETLSEYEIVSPIRVNALG
EPFPTNVHFKRTRRSINSATDPWPAFASSSSSSTSSQAHYRLSAFGQQFLFNLTANAGFI
APLFTVTLLGTPGVNQTKFYSEEEAELKHCFYKGYVNTNSEHTAVISLCSGMLGTFRSHD
GDYFIEPLQSMDEQEDEEEQNKPHIIYRRSAPQREPSTGRHACDTSEHKNRHSKDKKKTR
ARKWGERINLAGDVAALNSGLATEAFSAYGNKTDNTREKRTHRRTKRFLSYPRFVEVLVV
ADNRMVSYHGENLQHYILTLMSIVASIYKDPSIGNLINIVIVNLIVIHNEQDGPSISFNA
QTTLKNFCQWQHSKNSPGGIHHDTAVLLTRQDICRAHDKCDTLGLAELGTICDPYRSCSI
SEDSGLSTAFTIAHELGHVFNMPHDDNNKCKEEGVKSPQHVMAPTLNFYTNPWMWSKCSR
KYITEFLDTGYGECLLNEPESRPYPLPVQLPGILYNVNKQCELIFGPGSQVCPYMMQCRR
LWCNNVNGVHKGCRTQHTPWADGTECEPGKHCKYGFCVPKEMDVPVTDGSWGSWSPFGTC
SRTCGGGIKTAIRECNRPEPKNGGKYCVGRRMKFKSCNTEPCLKQKRDFRDEQCAHFDGK
HFNINGLLPNVRWVPKYSGILMKDRCKLFCRVAGNTAYYQLRDRVIDGTPCGQDTNDICV
QGLCRQAGCDHVLNSKARRDKCGVCGGDNSSCKTVAGTFNTVHYGYNTVVRIPAGATNID
VRQHSFSGETDDDNYLALSSSKGEFLLNGNFVVTMAKREIRIGNAVVEYSGSETAVERIN
STDRIEQELLLQVLSVGKLYNPDVRYSFNIPIEDKPQQFYWNSHGPWQACSKPCQGERKR
KLVCTRESDQLTVSDQRCDRLPQPGHITEPCGTDCDLRWHVASRSECSAQCGLGYRTLDI
YCAKYSRLDGKTEKVDDGFCSSHPKPSNREKCSGECNTGGWRYSAWTECSKSCDGGTQRR
RAICVNTRNDVLDDSKCTHQEKVTIQRCSEFPCPQWKSGDWSECLVTCGKGHKHRQVWCQ
FGEDRLNDRMCDPETKPTSMQTCQQPECASWQAGPWGQCSVTCGQGYQLRAVKCIIGTYM
SVVDDNDCNAATRPTDTQDCELPSCHPPPAAPETRRSTYSAPRTQWRFGSWTPCSATCGK
GTRMRYVSCRDENGSVADESACATLPRPVAKEECSVTPCGQWKALDWSSCSVTCGQGRAT
RQVMCVNYSDHVIDRSECDQDYIPETDQDCSMSPCPQRTPDSGLAQHPFQNEDYRPRSAS
PSRTHVLGGNQWRTGPWGACSSTCAGGSQRRVVVCQDENGYTANDCVERIKPDEQRACES
GPCPQWAYGNWGECTKLCGGGIRTRLVVCQRSNGERFPDLSCEILDKPPDREQCNTHACP
HDAAWSTGPWSSCSVSCGRGHKQRNVYCMAKDGSHLESDYCKHLAKPHGHRKCRGGRCPK
WKAGAWSQCSVSCGRGVQQRHVGCQIGTHKIARETECNPYTRPESERDCQGPRCPLYTWR
AEEWQECTKTCGEGSRYRKVVCVDDNKNEVHGARCDVSKRPVDRESCSLQPCEYVWITGE
WSECSVTCGKGYKQRLVSCSEIYTGKENYEYSYQTTINCPGTQPPSVHPCYLRDCPVSAT
WRVGNWGSCSVSCGVGVMQRSVQCLTNEDQPSHLCHTDLKPEERKTCRNVYNCELPQNCK
EVKRLKGASEDGEYFLMIRGKLLKIFCAGMHSDHPKEYVTLVHGDSENFSEVYGHRLHNP
TECPYNGSRRDDCQCRKDYTAAGFSSFQKIRIDLTSMQIITTDLQFARTSEGHPVPFATA
GDCYSAAKCPQGRFSINLYGTGLSLTESARWISQGNYAVSDIKKSPDGTRVVGKCGGYCG
KCTPSSGTGLEVRVL

Sequence length

1935

Interactions

View interactions

	Reactome
			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
Nephronophthisis	Likely pathogenic	rs2106648140	RCV001849640

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ADAMTS9-related disorder	Benign; Uncertain significance; Likely benign	rs17070967, rs73832368, rs77982452, rs6771712, rs36115950, rs6787633, rs17070905, rs775202077, rs113699218, rs75938827, rs150397612, rs146412036, rs201804556, rs373657194, rs142303242 View all (24 more)	RCV003975811 RCV003975814 RCV003910945 RCV003968459 RCV003975979 RCV003976048 RCV003976089 RCV003968686 RCV003968645 RCV003913543 RCV003916309 RCV003911254 RCV003933361 RCV003953838 RCV003961168 RCV003936404 RCV003926520 RCV003906325 RCV003416776 RCV003422429 RCV003408496 RCV003403009 RCV003907207 RCV003906854 RCV003904604 RCV003927109 RCV003969114 RCV003926106 RCV003915981 RCV003918473 RCV003905879 RCV003916107 RCV003928541 RCV003962925 RCV003930742 RCV003958211 RCV003926001 RCV003925917 RCV003978295
Cervical cancer	Benign	rs150397612	RCV005926092
Clear cell carcinoma of kidney	Benign	rs35990034, rs61754854	RCV005910087 RCV005908804
Familial cancer of breast	Benign	rs77982452	RCV005918538
Gastric cancer	Benign	rs4317088, rs150397612	RCV005915384 RCV005926093
Hepatocellular carcinoma	Benign; Uncertain significance	rs77982452, rs374917133	RCV005918539 RCV005932207
Lung cancer	Benign	rs4317088, rs9812473, rs61754854	RCV005915386 RCV005928163 RCV005908809
Malignant tumor of esophagus	Benign	rs77982452, rs9812473, rs61754854	RCV005918540 RCV005928162 RCV005908803
Melanoma	Benign	rs150397612, rs61754854	RCV005926095 RCV005908808
Ovarian serous cystadenocarcinoma	Benign	rs61754854	RCV005908805
Sarcoma	Benign; Likely benign	rs35990034, rs33998556, rs199940595	RCV005910088 RCV005910440 RCV005905334
Thymoma	Benign	rs4317088, rs61754854	RCV005915385 RCV005908806
Thyroid cancer, nonmedullary, 1	Benign	rs77982452, rs150397612, rs61754854	RCV005918542 RCV005926094 RCV005908807
Uterine carcinosarcoma	Benign	rs77982452	RCV005918541
Uterine corpus endometrial carcinoma	Benign	rs35990034, rs61754854	RCV005910089 RCV005908810

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32149133, 36870548
Adenocarcinoma of Lung	Inhibit	39940703
Alzheimer Disease	Associate	36895559
Arthritis Psoriatic	Associate	25990289
Arthritis Rheumatoid	Associate	32744323
Breast Neoplasms	Associate	23690187, 30261893, 30840279, 30959550, 31059025, 31638237, 33371806
Breast Neoplasms	Inhibit	29193730
Carcinogenesis	Associate	32889785
Carcinoma Hepatocellular	Associate	30393368, 34923953, 36535531
Carcinoma Ovarian Epithelial	Associate	27941916, 35311457
Carcinoma Renal Cell	Associate	31400752, 32716909
Carcinoma Squamous Cell	Associate	29741786, 33960436, 39940703
Cardiomyopathy Hypertrophic	Associate	35401927
Cardiomyopathy Hypertrophic	Inhibit	37258203
Cartilage Diseases	Associate	18671975
Cognition Disorders	Associate	28225792
Colitis Ulcerative	Associate	37481583
Colorectal Neoplasms	Associate	29186710, 31144439
Colorectal Neoplasms	Inhibit	32889785
Crohn Disease	Associate	37481583
Diabetes Mellitus	Associate	19833888, 34801028
Diabetes Mellitus Type 2	Associate	18567820, 18694974, 19833888, 22275441, 23967108, 25273842, 26599349
Diabetic Retinopathy	Associate	28821857
Dysbiosis	Associate	36291689
Emergence Delirium	Associate	36270064
Esophageal Squamous Cell Carcinoma	Associate	35578166
Fibrosis	Associate	26503507, 33345447
Fused Kidney	Associate	39726319
Glioblastoma	Associate	35874989
Glioma	Inhibit	24833086
Glioma	Associate	34923953, 36449154
Glutaric Acidemia I	Associate	32604397
Glycogen Storage Disease Type II	Associate	32979492
Hepatic Encephalopathy	Associate	38212812
Hypertrophy	Inhibit	37258203
Inflammation	Associate	24098343
Inflammatory Bowel Diseases	Associate	37481583
Insulin Resistance	Associate	28225792
Intervertebral Disc Degeneration	Associate	19180493
Lung Neoplasms	Associate	33896828, 36870548
Lymphatic Metastasis	Stimulate	30970517
Macular Degeneration	Associate	23455636
Mandibular Injuries	Associate	32604397
Neoplasm Metastasis	Associate	23690187, 31010360
Neoplasm Metastasis	Inhibit	29186710
Neoplasms	Inhibit	23690187, 24833086, 29186710, 29193730, 32516127, 34923953, 36535531
Neoplasms	Associate	27941916, 33960436, 36449154, 39940703
Non Muscle Invasive Bladder Neoplasms	Associate	31182759
Obesity	Associate	18567820
Oral Submucous Fibrosis	Inhibit	33345447
Osteoarthritis	Inhibit	14730609, 30655094
Polycystic Ovary Syndrome	Associate	24279306
Prostatic Neoplasms	Associate	31682594, 34565027, 39341147
Pulmonary Disease Chronic Obstructive	Associate	36291689
Squamous Cell Carcinoma of Head and Neck	Stimulate	30970517
Squamous Cell Carcinoma of Head and Neck	Inhibit	33345447
Stomach Neoplasms	Associate	30089248, 37300839
Stomach Neoplasms	Inhibit	32516127
Thymoma	Associate	34219124
Urinary Bladder Neoplasms	Associate	30170380, 31020952, 32277695, 33169791, 34112144, 39726319
Uterine Diseases	Associate	31010360

ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif 9)