country

Change Language

EN - English
FR - Français
DE - Deutsch
ES - Español
JA - 日本語
KO - 한국어

Country or Region:

United States

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

ADAMTS18 - ADAM metallopeptidase with thrombospondin type 1 motif 18 Gene

Also Known as KNO2; MMCAT; ADAMTS21

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 170692

About ADAMTS18

Cytogenetic location: 16q23.1 Genomic coordinates (GRCh38): 16:77,282,128-77,435,034 (from NCBI)

This gene has 9 transcripts (splice variants), 209 orthologues, 25 paralogues and is associated with 3 phenotypes. Biased expression in placenta (RPKM 9.8), endometrium (RPKM 0.6) and 1 other tissue.

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 disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]

ADAMTS18 Products (2)

mRNA	Protein	Name
NM_001326358.2	NP_001313287.1	A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 3
NM_199355.4	NP_955387.1	A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 1 preproprotein

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in eye development	IMP IMP: Inferred from mutant phenotype	23818446	GOA
acts upstream of or within negative regulation of platelet aggregation	IDA IDA: Inferred from direct assay	19218546	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADAMTS18 Protein Structure

Pep_M12B_propep

Reprolysin

TSP_1

ADAM_spacer1

TSP_1

PLAC

0
200
400
600
800
1000
1221 a.a.

Protein Preferred Names	Protein Names
A disintegrin and metalloproteinase with thrombospondin motifs 18	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18

Related Diseases

Diseases	Alias
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	MMCAT Microcornea-Myopic Chorioretinal Atrophy-Telecanthus Syndrome Mmcat Syndrome Microcornea, Myopic Chorioretinal Atrophy And Telecanthus
Telecanthus
Knobloch Syndrome	Knobloch-Layer Syndrome Retinal Detachment-Occipital Encephalocele Syndrome Myopia Retinal Detachment Encephalocele Retinal Detachment And Occipital Encephalocele
Hemometra	Hematometra
Scheuermann Disease	Scheuermann'S Disease Spinal Osteochondrosis Juvenile Osteochondrosis Of Spine Familial Scheuermann Disease Familial Scheuermann Juvenile Kyphosis Familial Spinal Osteochondrosis Scheuermann Juvenile Kyphosis Juvenile Osteochondritis Of The Spine Juvenile Osteochondrosis Of Scheurermann Scheuermann'S Kyphosis Sherman'S Disease Juvenile Kyphosis Scheuermann Kyphosis [X]Spinal Osteochondrosis, Unspecified
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Weill-Marchesani Syndrome	Gemss Syndrome Spherophakia-Brachymorphia Syndrome Marchesani-Weill Syndrome Wms Congenital Mesodermal Dystrophy Mesodermal Dysmorphodystrophy, Congenital Spherophakia Brachymorphia Syndrome Mesodermal Dysmorphodystrophy Congenital Wm Syndrome Brachydactyly-Spherophakia Syndrome Brachymorphy With Spherophakia Syndrome Congenital Mesodermal Dysmorphodystrophy Marchesani Syndrome Weill-Marchesani Syndrome, Autosomal Recessive Weill-Marchesani Syndrome, Autosomal Dominant
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00299	ADAMTS18 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18728	Adamts18 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25215	Adamts18 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ADAMTS18	VGNC	VGNC:59591
Rattus norvegicus	ADAMTS18	RGD	RGD:1560118
Mus musculus	ADAMTS18	MGD	MGI:2442600
Canis familiaris	ADAMTS18	VGNC	VGNC:37596
Bos taurus	ADAMTS18	VGNC	VGNC:25622
Macaca mulatta	ADAMTS18	VGNC	VGNC:69442
Others	ADAMTS18	NCBI