Property Summary

NCBI Gene PubMed Count 24
PubMed Score 67.32
PubTator Score 36.86

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
astrocytic glioma -1.100 5.7e-03
oligodendroglioma -1.100 2.2e-02
glioblastoma -1.200 1.3e-02
pediatric high grade glioma -1.400 2.3e-02
atypical teratoid/rhabdoid tumor -1.300 8.2e-03
pilocytic astrocytoma -1.800 1.3e-03
sonic hedgehog group medulloblastoma -2.000 3.5e-03
subependymal giant cell astrocytoma -2.106 2.2e-02
lung carcinoma 2.700 8.4e-26

 IMPC Phenotype (1)

Protein-protein Interaction (4)

Gene RIF (15)

PMID Text
24896365 Studies suggest that ADAM metallopeptidase with thrombospondin type 1 motif, 18 protein (ADAMTS-18) as a promising diagnostic and therapeutic target.
24874986 Novel homozygous mutations in ADAMTS18 were identified, consisting of c.1067T>A [p.L356*] in the first proband, c.2159G>C [p.C720S] in the 2 affected brothers
23818446 Results suggest that ADAMTS18 plays an essential role in early eye development and that mutations therein cause a distinct eye phenotype that is mainly characterized by microcornea and myopia.
23356391 study reveals that mutations in the ADAMTS18 gene can cause a broad phenotypic spectrum of eye disorders and contribute to shed further light on the complexity of retinal diseases
21862674 the study identified ADAMTS18 as the only gene carrying a homozygous protein altering mutation.
21047771 ADAMTS18 mutations promote growth, migration, and metastasis in melanoma
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20164292 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19844255 Observational study of gene-disease association. (HuGE Navigator)
19806480 ADAMTS18 gene methylation in 3 types of cancers was significantly higher than normal tissues. No significant association was found between methylation status & TNM staging. Epigenetic regulation of ADAMTS18 was associated with carcinogenesis.
19249006 ADAMTS18 and TGFBR3 might underlie BMD determination in the major human ethnic groups.
19249006 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18398821 Observational study of gene-disease association. (HuGE Navigator)
17546048 Functional epigenetics show ADAMTS18 to be a novel functional tumor suppressor, being frequently inactivated epigenetically in multiple carcinomas.
16507336 comparison of the effects of C-terminal truncation on the GAG-binding properties and aggrecanase activity of ADAMTS-5 relative to three other ADAMTS family members, ADAMTS-9, ADAMTS-16 and ADAMTS-18

AA Sequence

MECALLLACAFPAAGSGPPRGLAGLGRVAKALQLCCLCCASVAAALASDSSSGASGLNDDYVFVTPVEVD      1 - 70
SAGSYISHDILHNGRKKRSAQNARSSLHYRFSAFGQELHLELKPSAILSSHFIVQVLGKDGASETQKPEV     71 - 140
QQCFYQGFIRNDSSSSVAVSTCAGLSGLIRTRKNEFLISPLPQLLAQEHNYSSPAGHHPHVLYKRTAEEK    141 - 210
IQRYRGYPGSGRNYPGYSPSHIPHASQSRETEYHHRRLQKQHFCGRRKKYAPKPPTEDTYLRFDEYGSSG    211 - 280
RPRRSAGKSQKGLNVETLVVADKKMVEKHGKGNVTTYILTVMNMVSGLFKDGTIGSDINVVVVSLILLEQ    281 - 350
EPGGLLINHHADQSLNSFCQWQSALIGKNGKRHDHAILLTGFDICSWKNEPCDTLGFAPISGMCSKYRSC    351 - 420
TINEDTGLGLAFTIAHESGHNFGMIHDGEGNPCRKAEGNIMSPTLTGNNGVFSWSSCSRQYLKKFLSTPQ    421 - 490
AGCLVDEPKQAGQYKYPDKLPGQIYDADTQCKWQFGAKAKLCSLGFVKDICKSLWCHRVGHRCETKFMPA    491 - 560
AEGTVCGLSMWCRQGQCVKFGELGPRPIHGQWSAWSKWSECSRTCGGGVKFQERHCNNPKPQYGGLFCPG    561 - 630
SSRIYQLCNINPCNENSLDFRAQQCAEYNSKPFRGWFYQWKPYTKVEEEDRCKLYCKAENFEFFFAMSGK    631 - 700
VKDGTPCSPNKNDVCIDGVCELVGCDHELGSKAVSDACGVCKGDNSTCKFYKGLYLNQHKANEYYPVVLI    701 - 770
PAGARSIEIQELQVSSSYLAVRSLSQKYYLTGGWSIDWPGEFPFAGTTFEYQRSFNRPERLYAPGPTNET    771 - 840
LVFEILMQGKNPGIAWKYALPKVMNGTPPATKRPAYTWSIVQSECSVSCGGGYINVKAICLRDQNTQVNS    841 - 910
SFCSAKTKPVTEPKICNAFSCPAYWMPGEWSTCSKACAGGQQSRKIQCVQKKPFQKEEAVLHSLCPVSTP    911 - 980
TQVQACNSHACPPQWSLGPWSQCSKTCGRGVRKRELLCKGSAAETLPESQCTSLPRPELQEGCVLGRCPK    981 - 1050
NSRLQWVASSWSECSATCGLGVRKREMKCSEKGFQGKLITFPERRCRNIKKPNLDLEETCNRRACPAHPV   1051 - 1120
YNMVAGWYSLPWQQCTVTCGGGVQTRSVHCVQQGRPSSSCLLHQKPPVLRACNTNFCPAPEKREDPSCVD   1121 - 1190
FFNWCHLVPQHGVCNHKFYGKQCCKSCTRKI                                          1191 - 1221
//

Text Mined References (28)

PMID Year Title
26382559 2016 Evaluation of ADAMTS12, ADAMTS16, ADAMTS18 and IL-33 serum levels in pre-eclampsia.
25569086 2015 Hypermethylation of the 16q23.1 tumor suppressor gene ADAMTS18 in clear cell renal cell carcinoma.
24896365 2014 ADAMTS-18: a metalloproteinase with multiple functions.
24874986 2014 Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
23818446 2013 The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
23667181 2013 No evidence for locus heterogeneity in Knobloch syndrome.
23648065 2013 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
23356391 2013 The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
22425255 2012 A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity.
21862674 2011 Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
21047771 2010 Mutational and functional analysis reveals ADAMTS18 metalloproteinase as a novel driver in melanoma.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20164292 2010 Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women.
19844255 2010 Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.
19806480 2010 High-resolution melting analysis of ADAMTS18 methylation levels in gastric, colorectal and pancreatic cancers.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19249006 2009 Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.
19218546 2009 C-terminal ADAMTS-18 fragment induces oxidative platelet fragmentation, dissolves platelet aggregates, and protects against carotid artery occlusion and cerebral stroke.
18398821 2008 Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients.
17546048 2007 Epigenetic identification of ADAMTS18 as a novel 16q23.1 tumor suppressor frequently silenced in esophageal, nasopharyngeal and multiple other carcinomas.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16507336 2006 Glycosaminoglycan-binding properties and aggrecanase activities of truncated ADAMTSs: comparative analyses with ADAMTS-5, -9, -16 and -18.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11867212 2002 Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.