2. Gene
  3. ADAMTSL2 - ADAMTS like 2 Gene

ADAMTSL2 - ADAMTS like 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GPHYSD1; ADAMTSL-2

Gene ID: 9719 | Gene type: protein coding

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

ADAMTSL2 Protein Structure

TSP_1

TSP_1: Thrombospondin type 1 domain (52 - 105)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (215 - 330)

TSP_1

TSP_1: Thrombospondin type 1 domain (627 - 652)

TSP_1

TSP_1: Thrombospondin type 1 domain (744 - 794)

TSP_1

TSP_1: Thrombospondin type 1 domain (802 - 829)

TSP_1

TSP_1: Thrombospondin type 1 domain (859 - 907)

PLAC

PLAC: PLAC (protease and lacunin) domain (915 - 947)

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  • 951 a.a.
Protein Preferred Names Protein Names

ADAMTS-like protein 2

Recombinant ADAMTSL2 Proteins

Cat. No. Product Name Accession Purity
HY-P79059 ADAMTS-L2 Protein, Human (CHO, His) Q86TH1 (D23-S951) ≥95%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00311 ADAMTSL2 Human Pre-designed siRNA Set A / 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