ADAMTS18 - ADAM metallopeptidase with thrombospondin type 1 motif 18 Gene

Homo sapiens

Also known as KNO2; MMCAT; ADAMTS21

Gene ID: 170692 | Gene type: protein coding

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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00299	ADAMTS18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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