Property Summary

NCBI Gene PubMed Count 24
Grant Count 22
R01 Count 20
Funding $3,722,526
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 0.006
oligodendroglioma -1.100 0.022
glioblastoma -1.200 0.013
pediatric high grade glioma -1.400 0.023
atypical teratoid/rhabdoid tumor -1.300 0.008
pilocytic astrocytoma -1.800 0.001
sonic hedgehog group medulloblastoma -2.000 0.004
subependymal giant cell astrocytoma -2.106 0.022
lung carcinoma 2.700 0.000

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.
More...

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.
More...