Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56999
Gene name Gene Name - the full gene name approved by the HGNC.
ADAM metallopeptidase with thrombospondin type 1 motif 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADAMTS9
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005668 hsa-miR-29a-3p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR 20971881
MIRT005668 hsa-miR-29a-3p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR 20971881
MIRT005668 hsa-miR-29a-3p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR 20971881
MIRT707548 hsa-miR-8485 HITS-CLIP 21572407
MIRT707547 hsa-miR-329-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003179 Process Heart valve morphogenesis ISS
GO:0003229 Process Ventricular cardiac muscle tissue development ISS
GO:0004222 Function Metalloendopeptidase activity IBA 21873635
GO:0005783 Component Endoplasmic reticulum IDA
GO:0006508 Process Proteolysis IDA 12514189
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605421 13202 ENSG00000163638
Protein
UniProt ID 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
GDYFIEPLQSMDEQEDEEEQNKPHIIY
RRSAPQREPSTGRHACDTSEHKNRHSKDKKKTR
ARKWGERINLAGDVAALNSGLATEAFSAYGNKTDNTREKRTHRRTKRFLSYPRFVEVLVV
ADNRMVSYHGENLQHYILTLMSIVASIYKDPSIGNLINIVIVNLIVIHNEQDGPSISFNA
QTTLKNFCQWQHSKNSPGGIHHDTAVLLTRQDICRAHDKCDTLGLAELGTICDPYRSCSI
SEDSGLSTAFTIAHELGHVFNMPHDDNNKCKEEGVKSPQHVMAPTLNFYTNPWMWSKCSR
KYITEFLDTGYGECLLNEP
ESRPYPLPVQLPGILYNVNKQCELIFGPGSQVCPYMMQCRR
LWCNNVNGVHKGCRTQHTPWADGTECEPGKHCKYGFCV
PKEMDVPVTDGSWGSWSPFGTC
SRTCGGGIKTAIRECNRPEPKNGGKYCVGRRMKFKSCNTEPC
LKQKRDFRDEQCAHFDGK
HFNINGLLPNVRWVPKYSGILMKDRCKLFCRVAGNTAYYQLRDRVIDGTPCGQDTNDICV
QGLCRQAGCDHVLNSKARRDKCGVCGGDNSSCKTVAGTFNTVHYGYNTVVRIPAGATNID
VRQHSFSGETDDDNYLALSSSKGEFLLNGNFVVTMAKREIRIGNAVVEYSGSETAVERIN
STDRIEQELLLQVLSVGKLYNPDVRYSFNIP
IEDKPQQFYWNSHGPWQACSKPCQGERKR
KLVCTRESDQLTVSDQRCDRLPQPGHITEPCGTDCDLRWHVASRSECSAQCGLGYRTLDI
YCAKYSRLDGKTEKVDDGFCSSHPKPSNREKCSGEC
NTGGWRYSAWTECSKSCDGGTQRR
RAICVNTRNDVLDDSKCTHQEKVTIQRCSEFPC
PQWKSGDWSECLVTCGKGHKHRQVWCQ
FGEDRLNDRMCDPETKPTSMQTCQQPEC
ASWQAGPWGQCSVTCGQGYQLRAVKCIIGTYM
SVVDDNDCNAATRPTDTQDCELPSC
HPPPAAPETRRSTYSAPRTQWRFGSWTPCSATCGK
GTRMRYVSCRDENGSVADESACATLPRPVAKEECSVTPC
GQWKALDWSSCSVTCGQGRAT
RQVMCVNYSDHVIDRSECDQDYIPETDQDCSMSPC
PQRTPDSGLAQHPFQNEDYRPRSAS
PSRTHVLGGNQWRTGPWGACSSTCAGGSQRRVVVCQDENGYTANDCVERIKPDEQRACES
GPC
PQWAYGNWGECTKLCGGGIRTRLVVCQRSNGERFPDLSCEILDKPPDREQCNTHACP
HDAAWSTGPWSSCSVSCGRGHKQRNVYCMAKDGSHLESDYCKHLAKPHGHRKCRGGRCPK
WKAGAWSQCSVSCGRGVQQRHVGCQIGTHKIARETECNPYTRPESERDCQGPRCPLYTWR
AEEWQECTKTCGEGSRYRKVVCVDDNKNEVHGARCDVSKRPVDRESCSLQPC
EYVWITGE
WSECSVTCGKGYKQRLVSCSEIYTGKENYEYSYQTTINCPGTQPPSVHPCYLRDC
PVSAT
WRVGNWGSCSVSCGVGVMQRSVQCLTNEDQPSHLCHTDLKPEERKTCRNVYNCELPQNCK
EVKRLKGASEDGEYFLMIRGKLLKIFCAGMHSDHPKEYVTLVHGDSENFSEVYGHRLHNP
TECPYNGSRRDDCQCRKDYTAAGFSSFQKIRIDLTSMQIITTDLQFARTSEGHPVPFATA
GDCYSAAKCPQGRFSINLYGTGLSLTESARWISQGNYAVSDIKKSPDGTRVVGKCGGYCG
KCTPSSGTGLEVRV
L
Sequence length 1935
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
18372903, 23967108
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Nephronophthisis Nephronophthisis, familial juvenile, Juvenile nephronophthisis rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856
View all (190 more)
30609407
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 26620591 ClinVar, GWAS
Diabetes Diabetes GWAS
Neuroticism Neuroticism GWAS
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
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