ADAMTS2 - ADAM metallopeptidase with thrombospondin type 1 motif 2 Gene

Homo sapiens

Also known as NPI; PNPI; PCINP; PCPNI; PCI-NP; PC I-NP; ADAM-TS2; ADAMTS-2; ADAMTS-3; EDSDERMS

Gene ID: 9509 | Gene type: protein coding

About ADAMTS2

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:179,110,853-179,345,461 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 288 orthologues, 25 paralogues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 11.5), placenta (RPKM 8.1) and 21 other tissues.

Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family 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 procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

ADAMTS2 Products(2)

mRNA	Protein	Name
NM_014244.5	NP_055059.2	A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 1 preproprotein
NM_021599.4	NP_067610.1	A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 2 precursor

ADAMTS2 Protein Structure

Pep_M12B_propep

Reprolysin

TSP_1

ADAM_spacer1

TSP_1

0
200
400
600
800
1000
1211 a.a.

Protein Preferred Names

Protein Names

A disintegrin and metalloproteinase with thrombospondin motifs 2

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2

Related Diseases

Diseases

Alias

Ehlers-Danlos Syndrome, Dermatosparaxis Type

Dermatosparaxis	EDSDERMS
Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive	Eds Viic
Eds7c	Ehlers-Danlos Syndrome Dermatosparaxis Type
Dermatosparaxis Ehlers-Danlos Syndrome	Dermatosparaxis Eds
Ehlers-Danlos Syndrome Type 7c	Deds
Human Dermatosparaxis Eds Viic	Ehlers-Danlos Syndrome 7c
Ehlers-Danlos Syndrome, Type Viic

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Umbilical Hernia

Hernia, Umbilical

Pelvic Organ Prolapse

Rectal Prolapse	Pelvic Organ Prolapse, Susceptibility To, 1
Pelvic Organ Prolapse, Susceptibility To	Prolapse Of Vagina And Rectum
Vaginal Prolapse	Pelvic Organ Prolapse 1
Procidentia, Rectum	Prolapse Of Rectal Mucosa
Procidentia Of Rectum	Rectal Mucosa Prolapse
Rectum Prolapse	Procidentia Rectum
Rp - [Rectal Prolapse]	Male Proctocele
Male Rectocele	Proctoptosis
Female Genital Prolapse	Female Prolapse
Incompetence Of Pelvic Fundus	Relaxation Of Perineum
Deficiency Of Perineum

Fibrous Dysplasia

Fibrous Dysplasia Of Bone

Hennekam Syndrome

Hennekam Lymphangiectasia Lymphedema Syndrome	Hennekam Lymphangiectasia-Lymphedema Syndrome
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome	Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome	Lymphangiectasies And Lymphedema Hennekam Type
Generalized Lymphatic Dysplasia	Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome

Tibialis Tendinitis

Colloid Adenoma

Macrofollicular Adenoma

Osteogenesis Imperfecta, Type Ii

Vrolik Type Of Osteogenesis Imperfecta	Osteogenesis Imperfecta Type 2
OI2	Oi, Type Ii
Osteogenesis Imperfecta Congenita	Oic
Osteogenesis Imperfecta Type Ii	Lethal Osteogenesis Imperfecta
Oi Type 2	Osteogenesis Imperfecta Congenita Perinatal Lethal Form
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form	Perinatal Lethal Osteogenesis Imperfecta Congenita
Perinatally Lethal Oi	Osteogenesis Imperfecta 2
Oi-Ii	Oi-Iia
Oi Type Iia	Osteogenesis Imperfecta Type Iia
Osteogenesis Imperfecta Type Ii Autosomal Dominant	Oi Type Ii
Osteogenesis Imperfecta, Dominant Perinatal Lethal

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

Cholestasis-Lymphedema Syndrome

Aagenaes Syndrome	Chls
Lcs	Cholestasis-Edema Syndrome, Norwegian Type
Lymphedema-Cholestasis Syndrome	Cholestasis Lymphedema Syndrome
Lcs1	Lymphedema Cholestasis Syndrome

Collagen Disease

Collagen Diseases

Collagen Disorder

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

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Spinocerebellar Ataxia 37

Spinocerebellar Ataxia Type 37	SCA37
Spinocerebellar Ataxia With Altered Vertical Eye Movements

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Hereditary Lymphedema

Milroy Disease

Osteogenesis Imperfecta, Type Iii

Osteogenesis Imperfecta Type Iii	OI3
Oi, Type Iii	Osteogenesis Imperfecta Type 3
Oi Type Iii	Oi Type 3
Progressive Deforming Osteogenesis Imperfecta	Severe Osteogenesis Imperfecta
Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae	Progressively Deforming Osteogenesis Imperfecta With Normal Sclera
Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae	Progressively Deforming Oi
Osteogenesis Imperfecta 3	Oi-Iii
Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I	OI1
Oi, Type I	Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta With Blue Sclerae	Osteogenesis Imperfecta Type 1
Adair-Dighton Syndrome	Mild Osteogenesis Imperfecta
Non-Deforming Osteogenesis Imperfecta	Oi Type 1
Van Der Hoeve Syndrome	Classic Non-Deforming Oi With Blue Sclerae
Osteogenesis Imperfecta 1	Oi-I
Osteopenic Non-Fracture Syndrome	Osteogenesis Imperfecta, Mild
Osteogenesis Imperfecta	Lobstein'S Disease

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm	Annuloaortic Ectasia
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Familial Aortic Dissection
Familial Taad	Familial Thoracic Aortic Aneurysm
Congenital Aneurysm Of Ascending Aorta	Familial Aortic Aneurysm
Familial Thoracic Aortic Aneurysm And Dissection	Aortic Aneurysm, Thoracic
AAT1	Faa1
Aortic Dissection, Familial	Aortic Aneurysm, Familial Thoracic
Aneurysm, Thoracic Aortic	Faa
Ftaad	Taa
Taad	Cystic Medial Necrosis Of Aorta
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection	Aortic Aneurysm Thoracic
Familial Aortic Aneurysms	Aneurysm, Aortic, Thoracic, Familial, Type 1
Aneurysm Of Thoracic Aorta	Intrathoracic Aneurysm
Thoracic Aorta Aneurysm	Thoracic Aortic Aneurysm Without Rupture
Thoracic Aneurysm	Thorax Arterial Aneurysm
Thoracic Artery Aneurysm	Thoracic Arterial Aneurysm
Thorax Aneurysm	Thorax Aortic Aneurysm
Dissection Of Thoracic Aorta

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-RS00301	ADAMTS2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ADAMTS2	VGNC	VGNC:69497
Felis catus	ADAMTS2	VGNC	VGNC:59592
Rattus norvegicus	ADAMTS2	RGD	RGD:1565950
Bos taurus	ADAMTS2	VGNC	VGNC:25624
Canis familiaris	ADAMTS2	VGNC	VGNC:37598
Mus musculus	ADAMTS2	MGD	MGI:1347356
Others	ADAMTS2	NCBI

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