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FLASH GENE

Symbol

ADAMTS12

contributors: mct - updated : 25-09-2018

HGNC name	ADAM metallopeptidase with thrombospondin type 1 motif, 12
HGNC id	14605

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	5p13.3      Physical location : 33.527.286 - 33.892.124
Synonym name	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12
Synonym symbol(s)	AT12, ADAM-TS12, PRO4389
EC.number	3.4.24.-

DNA

TYPE	functioning gene
STRUCTURE	368.66 kb     24 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_030955 24 - 8791 NP_112217 150 1594 - 2012 23019333 NM_001324512 22 - 8536 NP_001311441 - 1509 - 2012 23019333 NM_001324511 3 - 1177 NP_001311440 - 232 - 2012 23019333

EXPRESSION

Type	restricted

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 Nervous brain       lowly Reproductive male system prostate     moderately Respiratory lung       moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic neutrophil Homo sapiens not specific chondrocyte Homo sapiens

cell lineage
cell lines	gastric tumor cell lines
fluid/secretion

at STAGE

physiological period

fetal

Text	pulmonary cells in development

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one propeptide region
	one metalloproteinase domain
	one disintegrin-like domain
	eight thrombospondin type 1 (TSP1) motif

conjugated

MetalloP

HOMOLOGY

Homologene

FAMILY

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

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION

extracellular

basic FUNCTION	may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion
	ADAMTS12 confers tumour-protective functions upon cells that produce this proteolytic enzyme
	displays antiangiogenic properties and protect the host toward tumor progression
	ADAMTS12, independent of its proteolytic activity, plays a specific, non-redundant role in trophoblast invasion
	ADAMTS7 and ADAMTS12 appear to be potent negative regulators of endplate cartilage development
	is a degradative enzyme that interacts with the degradable fragments of cartilage oligomeric matrix protein, which is a prominent non-collagenous matrix component in articular cartilage
	ADAMTS12 is implicated in the inflammatory response by modulating normal neutrophil apoptosis

CELLULAR PROCESS

protein, degradation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

ADAMTS12, a downstream molecule of PTHLH signaling, is a novel regulator of chondrogenesis

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein

the four C-terminal TSP-1-like repeats of ADAMTS12 are shown to be necessary and sufficient for its interaction with COMP

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in the maternal and cord blood were lower in the preeclampsia group than in the control group

Susceptibility

to rheumatoid arthritis (RA)

Variant & Polymorphism SNP	rs10461703 significantly associated to RA

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Adamts12-deficient mice are more susceptible to cancer development, displaying increased angiogenesis and tumor invasion