1. Gene
  2. ADAMTS17 - ADAM metallopeptidase with thrombospondin type 1 motif 17 Gene

ADAMTS17 - ADAM metallopeptidase with thrombospondin type 1 motif 17 Gene

Homo sapiens

Also known as WMS4

Gene ID: 170691 | Gene type: protein coding

About ADAMTS17

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:99,971,437-100,341,975 (from NCBI)

This gene has 9 transcripts (splice variants), 195 orthologues, 25 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

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 promote breast Cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]

ADAMTS17 Products(1)

mRNA Protein Name
NM_139057.4 NP_620688.2 A disintegrin and metalloproteinase with thrombospondin motifs 17 preproprotein

ADAMTS17 Protein Structure

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (36 - 180)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (349 - 449)

TSP_1

TSP_1: Thrombospondin type 1 domain (547 - 597)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (713 - 783)

TSP_1

TSP_1: Thrombospondin type 1 domain (868 - 896)

TSP_1

TSP_1: Thrombospondin type 1 domain (927 - 969)

TSP_1

TSP_1: Thrombospondin type 1 domain (978 - 1028)

PLAC

PLAC: PLAC (protease and lacunin) domain (1048 - 1081)

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Protein Preferred Names Protein Names

A disintegrin and metalloproteinase with thrombospondin motifs 17

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17

Related Diseases

Diseases Alias
Weill-Marchesani Syndrome 4

Weill-Marchesani-Like Syndrome

Weill-Marchesani 4 Syndrome, Recessive

WMS4

Wmsl

Ichthyosis-Short Stature-Brachydactyly-Microspherophakia Syndrome

15q26.3 Microdeletion Syndrome

Anterior Segment Dysgenesis 1

Anterior Segment Mesenchymal Dysgenesis

Anterior Segment Dysgenesis 1, Multiple Subtypes

ASGD1

Asmd

Anterior Segment Ocular Dysgenesis

Asod

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Ocular Anterior Segment Dysgenesis

Dysgenesis, Anterior Segment, Type 1

Axenfeld-Rieger Syndrome, Type 3

Irido-Corneal Dysgenesis

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

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

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Ichthyosis, Congenital, Autosomal Recessive 9

Autosomal Recessive Congenital Ichthyosis 9

ARCI9

Ichthyosis, Congenital, Autosomal Recessive, Type 9

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

Lens Subluxation

Subluxation Of Lens

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

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Brachydactyly
Acromicric Dysplasia

ACMICD

Acromicric Skeletal Dysplasia

Dysplasia, Acromicric

Tracheal Stenosis

Stenosis Of Trachea

Geleophysic Dysplasia 2

GPHYSD2

Geleophysic Dwarfism

Dysplasia, Geleophysic, Type 2

Geleophysic Dysplasia

Stiff Skin Syndrome

SSKS

Stiff Skin

Megalocornea

Isolated Congenital Megalocornea

Congenital Anterior Megalophthalmia

Anterior Megalophthalmos

Mgc1

Mgcn

Congenital Keratoglobus

Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

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

Orthologs Information

Species Symbol Source ID
Mus musculus ADAMTS17 MGD MGI:3588195
Felis catus ADAMTS17 VGNC VGNC:81037
Canis familiaris ADAMTS17 VGNC VGNC:37595
Bos taurus ADAMTS17 VGNC VGNC:25621
Macaca mulatta ADAMTS17 VGNC VGNC:69440
Rattus norvegicus ADAMTS17 RGD RGD:1308783
Others ADAMTS17 NCBI