ADAMTSL2 - ADAMTS like 2 Gene

Also Known as GPHYSD1; ADAMTSL-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9719

About ADAMTSL2

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,532,164-133,575,519 (from NCBI)

This gene has 4 transcripts (splice variants), 205 orthologues, 25 paralogues and is associated with 4 phenotypes. Broad expression in kidney (RPKM 10.4), adrenal (RPKM 9.6) and 18 other tissues.

Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like 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 protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]

ADAMTSL2 Products (2)

mRNA	Protein	Name
NM_001145320.2	NP_001138792.1	ADAMTS-like protein 2 precursor
NM_014694.4	NP_055509.2	ADAMTS-like protein 2 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18677313	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	18677313	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

ADAMTSL2 Protein Structure

TSP_1

ADAM_spacer1

TSP_1

PLAC

0
200
400
600
800
951 a.a.

Protein Preferred Names	Protein Names
ADAMTS-like protein 2

Related Diseases

Diseases	Alias
Geleophysic Dysplasia 1	GPHYSD1 Geleophysic Dwarfism Geleophysic Dysplasia
Geleophysic Dysplasia	Geleophysic Dwarfism Gphysd
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
Tracheal Stenosis	Stenosis Of Trachea
Tracheal Disease	Tracheal Diseases Tracheal Anomaly Tracheal Disorders
Geleophysic Dysplasia 2	GPHYSD2 Geleophysic Dwarfism Dysplasia, Geleophysic, Type 2 Geleophysic Dysplasia
Acromicric Dysplasia	ACMICD Acromicric Skeletal Dysplasia Dysplasia, Acromicric
Geleophysic Dysplasia 3	GPHYSD3
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
Stiff Skin Syndrome	SSKS Stiff Skin
Isolated Ectopia Lentis	Familial Ectopia Lentis Ectopia Lentis Ectopia Lentis Syndrome Lens Subluxation Iel Congenital Ectopia Lentis Subluxation Of Lens Ectopia Lentis, Isolated Ectopia Lentis Isolated
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
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Radial Nerve Lesion	Lesion Of Radial Nerve Radial Nerve Lesions Radial Neuropathy Radial Nerve Mononeuritis
Accommodative Esotropia	Esotropia With Accommodative Compensation
Lens Subluxation	Subluxation Of Lens
Radial Neuropathy
Contractural Arachnodactyly, Congenital	Congenital Contractural Arachnodactyly Beals Syndrome CCA Beals-Hecht Syndrome Distal Arthrogryposis Type 9 Arthrogryposis, Distal, Type 9 Da9 Arachnodactyly, Contractural Beals Type Contractures, Multiple With Arachnodactyly Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis Arthrogyroposis, Distal, Type 9 Distal Arthrogyropsis Type 9 Cca Syndrome Arachnodactyly
Bone Development Disease
Winchester Syndrome	WNCHRS Winchester Disease Winchester-Grossman Syndrome
Scoliosis
Brachydactyly
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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00311	ADAMTSL2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ADAMTSL2	RGD	RGD:1305459
Mus musculus	ADAMTSL2	MGD	MGI:1925044
Felis catus	ADAMTSL2	VGNC	VGNC:59600
Bos taurus	ADAMTSL2	VGNC	VGNC:25631
Macaca mulatta	ADAMTSL2	VGNC	VGNC:69399
Canis familiaris	ADAMTSL2	VGNC	VGNC:37607