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FLASH GENE

Symbol

ADAMTS18

contributors: mct/npt/pgu - updated : 06-03-2017

HGNC name	ADAM metallopeptidase with thrombospondin type 1 motif, 18
HGNC id	17110

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MMCAT microcornea, myopic chorioretinal atrophy, and telecanthus
Location	16q23.1      Physical location : 77.316.025 - 77.469.011
Synonym name	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18
	a disintegrin-like and metalloprotease (reprolysin type) with
	thrombospondin type 1 motif, 21
Synonym symbol(s)	ADAMTS21, ADAM-TS18, KNO2, ADAMTS21, MMCAT
EC.number	3.4.24.-

DNA

TYPE	functioning gene
STRUCTURE	152.98 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_199355 23 - 5930 NP_955387 135 1221 - 2012 22386991 ADAMTS-18s - - - - - - 2012 22386991 cleaved by thrombin at the thrombin cleavage site NM_001326358 - - 5934 NP_001313287 - 1049 - 2012 22386991

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Nervous brain         Reproductive male system prostate       Respiratory lung         Visual eye retina       Homo sapiens   eye lens       Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one metalloproteinase domain
	one disintegrin-like domain
	one thrombospondin type 1 (TS) motif
	C-terminal 385-AA fragment induces oxidative platelet fragmentation

conjugated

MetalloP

HOMOLOGY

interspecies

homolog to C.elegans R166.5

intraspecies

homolog to ADAMTS16

Homologene

FAMILY

ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family

CATEGORY

enzyme , tumor suppressor

SUBCELLULAR LOCALIZATION

basic FUNCTION	functional tumor suppressor, being frequently inactivated epigenetically in multiple carcinomas
	plays likely an essential role in early eye development
	play important roles in development, angiogenesis and coagulation; dysregulation and mutation of these enzymes have been implicated in many disease processes, such as inflammation, cancer, arthritis and atherosclerosis

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MMCAT

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   frequently silenced by hypermethylation in esophageal, nasopharyngeal and multiple other carcinomas tumoral somatic mutation       promote growth, migration, and metastasis in melanoma tumoral     --low   by hypermethylation, in clear cell renal cell carcinoma

Susceptibility

to variation of hip BMD

Variant & Polymorphism SNP	the C allele of rs11864477 significantly associated to lower hip BMD

Candidate gene
Marker	ADAMTS18 gene hypermethylation may be involved in the tumorigenesis of clear cell renal cell carcinoma and may serve as a novel biomarker for this disease
Therapy target

ANIMAL & CELL MODELS

Adamts18-deficient mice are born in a normal Mendelian ratio, and are viable but show a transient growth delay