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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	170692
Gene name Gene Name - the full gene name approved by the HGNC.	ADAM metallopeptidase with thrombospondin type 1 motif 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADAMTS18
Synonyms (NCBI Gene) Gene synonyms aliases	ADAMTS21, KNO2, MMCAT
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q23.1
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. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148319220	G>A,C	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs397515467	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397515468	A>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs397515469	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained

Show/Hide all(82)

miRTarBase ID	miRNA	Experiments	Reference
MIRT648906	hsa-miR-3662	HITS-CLIP	23824327
MIRT648905	hsa-miR-3163	HITS-CLIP	23824327
MIRT648904	hsa-miR-645	HITS-CLIP	23824327
MIRT648903	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT648902	hsa-miR-1251-5p	HITS-CLIP	23824327
MIRT648901	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT648900	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT648899	hsa-miR-3161	HITS-CLIP	23824327
MIRT648898	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT648897	hsa-miR-588	HITS-CLIP	23824327
MIRT648896	hsa-miR-599	HITS-CLIP	23824327
MIRT614472	hsa-miR-6854-5p	HITS-CLIP	23824327
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT614470	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT573120	hsa-miR-6823-5p	PAR-CLIP	20371350
MIRT573119	hsa-miR-4680-5p	PAR-CLIP	20371350
MIRT614470	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614470	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614470	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614472	hsa-miR-6854-5p	HITS-CLIP	27418678
MIRT614472	hsa-miR-6854-5p	HITS-CLIP	27418678
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT648906	hsa-miR-3662	HITS-CLIP	23824327
MIRT648905	hsa-miR-3163	HITS-CLIP	23824327
MIRT648904	hsa-miR-645	HITS-CLIP	23824327
MIRT648903	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT648902	hsa-miR-1251-5p	HITS-CLIP	23824327
MIRT648901	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT648900	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT648899	hsa-miR-3161	HITS-CLIP	23824327
MIRT648898	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT648897	hsa-miR-588	HITS-CLIP	23824327
MIRT648896	hsa-miR-599	HITS-CLIP	23824327
MIRT614472	hsa-miR-6854-5p	HITS-CLIP	23824327
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT614470	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT573120	hsa-miR-6823-5p	PAR-CLIP	20371350
MIRT573119	hsa-miR-4680-5p	PAR-CLIP	20371350
MIRT766502	hsa-miR-1197	CLIP-seq
MIRT766503	hsa-miR-1303	CLIP-seq
MIRT766504	hsa-miR-18a	CLIP-seq
MIRT766505	hsa-miR-18b	CLIP-seq
MIRT766506	hsa-miR-3123	CLIP-seq
MIRT766507	hsa-miR-3150a-3p	CLIP-seq
MIRT766508	hsa-miR-3175	CLIP-seq
MIRT766509	hsa-miR-3925-5p	CLIP-seq
MIRT766510	hsa-miR-4667-5p	CLIP-seq
MIRT766511	hsa-miR-4698	CLIP-seq
MIRT766512	hsa-miR-4700-5p	CLIP-seq
MIRT766513	hsa-miR-4731-5p	CLIP-seq
MIRT766514	hsa-miR-4735-3p	CLIP-seq
MIRT766515	hsa-miR-939	CLIP-seq
MIRT1925810	hsa-miR-1305	CLIP-seq
MIRT1925811	hsa-miR-186	CLIP-seq
MIRT1925812	hsa-miR-3133	CLIP-seq
MIRT1925813	hsa-miR-4789-3p	CLIP-seq
MIRT1925814	hsa-miR-498	CLIP-seq
MIRT2167183	hsa-miR-1224-5p	CLIP-seq
MIRT2167184	hsa-miR-1297	CLIP-seq
MIRT1925810	hsa-miR-1305	CLIP-seq
MIRT2167185	hsa-miR-26a	CLIP-seq
MIRT2167186	hsa-miR-26b	CLIP-seq
MIRT2167187	hsa-miR-27a	CLIP-seq
MIRT2167188	hsa-miR-27b	CLIP-seq
MIRT2167189	hsa-miR-3915	CLIP-seq
MIRT2167190	hsa-miR-3928	CLIP-seq
MIRT2167191	hsa-miR-410	CLIP-seq
MIRT2167192	hsa-miR-4455	CLIP-seq
MIRT2167193	hsa-miR-4465	CLIP-seq
MIRT2167194	hsa-miR-4689	CLIP-seq
MIRT1925814	hsa-miR-498	CLIP-seq
MIRT2167195	hsa-miR-513a-5p	CLIP-seq
MIRT2167196	hsa-miR-609	CLIP-seq
MIRT2383904	hsa-miR-1262	CLIP-seq
MIRT2167187	hsa-miR-27a	CLIP-seq
MIRT2167188	hsa-miR-27b	CLIP-seq
MIRT2167192	hsa-miR-4455	CLIP-seq
MIRT2383905	hsa-miR-4701-3p	CLIP-seq
MIRT2167195	hsa-miR-513a-5p	CLIP-seq
MIRT2167196	hsa-miR-609	CLIP-seq

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IMP	23818446
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:0090331	Process	Negative regulation of platelet aggregation	IDA	19218546
GO:0090331	Process	Negative regulation of platelet aggregation	IEA
GO:0090331	Process	Negative regulation of platelet aggregation	IEA

MIM	HGNC	e!Ensembl
607512	17110	ENSG00000140873

Protein

UniProt ID

Q8TE60

Protein name

A disintegrin and metalloproteinase with thrombospondin motifs 18 (ADAM-TS 18) (ADAM-TS18) (ADAMTS-18) (EC 3.4.24.-)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01562	Pep_M12B_propep	62 → 203	Reprolysin family propeptide	Family
PF01421	Reprolysin	294 → 498	Reprolysin (M12B) family zinc metalloprotease	Domain
PF17771	ADAM_CR_2	511 → 578	ADAM cysteine-rich domain	Domain
PF00090	TSP_1	593 → 643	Thrombospondin type 1 domain	Domain
PF05986	ADAM_spacer1	749 → 861	ADAM-TS Spacer 1	Family
PF19030	TSP1_ADAMTS	935 → 991		Domain
PF19030	TSP1_ADAMTS	995 → 1048		Domain
PF19030	TSP1_ADAMTS	1056 → 1115		Domain
PF19030	TSP1_ADAMTS	1127 → 1177		Domain
PF08686	PLAC	1188 → 1218	PLAC (protease and lacunin) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal lung, liver, and kidney and in adult brain, prostate, submaxillary gland, and endothelium.

Sequence

MECALLLACAFPAAGSGPPRGLAGLGRVAKALQLCCLCCASVAAALASDSSSGASGLNDD
YVFVTPVEVDSAGSYISHDILHNGRKKRSAQNARSSLHYRFSAFGQELHLELKPSAILSS
HFIVQVLGKDGASETQKPEVQQCFYQGFIRNDSSSSVAVSTCAGLSGLIRTRKNEFLISP
LPQLLAQEHNYSSPAGHHPHVLYKRTAEEKIQRYRGYPGSGRNYPGYSPSHIPHASQSRE
TEYHHRRLQKQHFCGRRKKYAPKPPTEDTYLRFDEYGSSGRPRRSAGKSQKGLNVETLVV
ADKKMVEKHGKGNVTTYILTVMNMVSGLFKDGTIGSDINVVVVSLILLEQEPGGLLINHH
ADQSLNSFCQWQSALIGKNGKRHDHAILLTGFDICSWKNEPCDTLGFAPISGMCSKYRSC
TINEDTGLGLAFTIAHESGHNFGMIHDGEGNPCRKAEGNIMSPTLTGNNGVFSWSSCSRQ
YLKKFLSTPQAGCLVDEPKQAGQYKYPDKLPGQIYDADTQCKWQFGAKAKLCSLGFVKDI
CKSLWCHRVGHRCETKFMPAAEGTVCGLSMWCRQGQCVKFGELGPRPIHGQWSAWSKWSE
CSRTCGGGVKFQERHCNNPKPQYGGLFCPGSSRIYQLCNINPCNENSLDFRAQQCAEYNS
KPFRGWFYQWKPYTKVEEEDRCKLYCKAENFEFFFAMSGKVKDGTPCSPNKNDVCIDGVC
ELVGCDHELGSKAVSDACGVCKGDNSTCKFYKGLYLNQHKANEYYPVVLIPAGARSIEIQ
ELQVSSSYLAVRSLSQKYYLTGGWSIDWPGEFPFAGTTFEYQRSFNRPERLYAPGPTNET
LVFEILMQGKNPGIAWKYALPKVMNGTPPATKRPAYTWSIVQSECSVSCGGGYINVKAIC
LRDQNTQVNSSFCSAKTKPVTEPKICNAFSCPAYWMPGEWSTCSKACAGGQQSRKIQCVQ
KKPFQKEEAVLHSLCPVSTPTQVQACNSHACPPQWSLGPWSQCSKTCGRGVRKRELLCKG
SAAETLPESQCTSLPRPELQEGCVLGRCPKNSRLQWVASSWSECSATCGLGVRKREMKCS
EKGFQGKLITFPERRCRNIKKPNLDLEETCNRRACPAHPVYNMVAGWYSLPWQQCTVTCG
GGVQTRSVHCVQQGRPSSSCLLHQKPPVLRACNTNFCPAPEKREDPSCVDFFNWCHLVPQ
HGVCNHKFYGKQCCKSCTRKI

Sequence length

1221

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea-myopic chorioretinal atrophy	rs397515467, rs397515468, rs397515469	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Acne	acne vulgaris	N/A	N/A	GWAS
Alzheimer disease	Alzheimer's disease or gastroesophageal reflux disease	N/A	N/A	GWAS
Diabetes	Type 2 diabetes (age of onset), Glycaemic response to GLP-1 agonist treatment in type 2 diabetes (HbA1c reduction)	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Knobloch Syndrome	knobloch syndrome	N/A	N/A	ClinVar
Leber Congenital Amaurosis	leber congenital amaurosis	N/A	N/A	ClinVar
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar
Retinal Dystrophy	inherited retinal dystrophy	N/A	N/A	GenCC
Retinitis Pigmentosa	retinitis pigmentosa	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Renal Cell	Associate	25569086, 40649942
Esophageal Squamous Cell Carcinoma	Associate	35789548
Fibroadenoma	Associate	29860265
Hypoxia	Associate	35789548
Malaria	Associate	37788095
Melanoma	Associate	21047771, 33917086
Myopia	Associate	29346494
Nasopharyngeal Carcinoma	Inhibit	17546048
Neoplasm Metastasis	Associate	21047771, 40649942
Neoplasms	Inhibit	17546048
Neoplasms	Associate	25569086, 35176183
Retinal Diseases	Associate	36161854
Stomach Neoplasms	Associate	35874675

ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18)