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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	170692
Gene name	ADAM metallopeptidase with thrombospondin type 1 motif 18
Gene symbol	ADAMTS18
Synonyms (NCBI Gene)	ADAMTS21KNO2MMCAT
Chromosome	16
Chromosome location	16q23.1
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

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

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ADAMTS18-related disorder	Likely pathogenic; Pathogenic	rs935159456, rs777218145	RCV003407874 RCV003402406
Familial cancer of breast	Likely pathogenic	rs201570714	RCV005922459
Microcornea-myopic chorioretinal atrophy	Likely pathogenic; Pathogenic	rs139516327, rs776870884, rs1011453043, rs397515467, rs397515468, rs397515469	RCV001785815 RCV003223421 RCV005439042 RCV000056279 RCV000056280 RCV000056281
Retinal disorder	Likely pathogenic; Pathogenic	rs139516327	RCV006270241

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs79944566	RCV005914082
Clear cell carcinoma of kidney	Uncertain significance	rs762815250	RCV005926463
Gastric cancer	Uncertain significance; Benign	rs139220565, rs138771231, rs144947524	RCV005911158 RCV005914079 RCV005903034
Knobloch syndrome	Uncertain significance	rs387906972	RCV000023647
Leber congenital amaurosis	Uncertain significance	rs143681049, rs1567453873	RCV000754983 RCV000754984
Lung cancer	Benign	rs138771231, rs79944566	RCV005914081 RCV005914085
Malignant lymphoma, large B-cell, diffuse	Benign	rs185135346	RCV005913007
Nonpapillary renal cell carcinoma	Likely benign	rs35478105	RCV005912673
Ovarian serous cystadenocarcinoma	Benign	rs138771231, rs79944566	RCV005914080 RCV005914084
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs868570004, rs202020248, rs745612415, rs138435590, rs149031657, rs142639977, rs751818903	RCV004816841 RCV004816866 RCV004815721 RCV004813584 RCV004813638 RCV004813703 RCV004818202
Retinitis pigmentosa	Conflicting classifications of pathogenicity	rs148703569, rs138435590	RCV001593127 RCV001593211
Sarcoma	Benign	rs138771231, rs79944566	RCV005914078 RCV005914083
Uterine corpus endometrial carcinoma	Benign	rs79944566	RCV005914086

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)