ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18)

Gene

• Entrez ID: 170692
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 18
• Gene symbol: ADAMTS18
• Synonyms: ADAMTS21, KNO2, MMCAT
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IMP	23818446
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0006508	Process	Proteolysis	IEA
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0090331	Process	Negative regulation of platelet aggregation	IDA	19218546

Other IDs

• MIM: 607512
• HGNC: 17110
• e!Ensembl: 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

• 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

Pathways

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	27114598
Microcornea, myopic chorioretinal atrophy, and telecanthus	MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, Microcornea-myopic chorioretinal atrophy-telecanthus syndrome	rs397515467, rs397515468, rs397515469	23818446

Unknown
Disease name	Disease term	dbSNP ID	References
Microcornea	Microcornea
Posteriorly rotated ear	Posteriorly rotated ear