ADAMTS4 - ADAM metallopeptidase with thrombospondin type 1 motif 4 Gene

Also Known as ADMP-1; ADAMTS-2; ADAMTS-4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9507

About ADAMTS4

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,184,302-161,199,054 (from NCBI)

This gene has 3 transcripts (splice variants), 116 orthologues and 25 paralogues. Broad expression in gall bladder (RPKM 12.3), appendix (RPKM 11.7) and 19 other tissues.

Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this 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 enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

ADAMTS4 Products (2)

mRNA Protein Name
NM_001320336.3 NP_001307265.1 A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 2 precursor
NM_005099.6 NP_005090.3 A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 1 preproprotein
Molecular Function GO Annotation Evidence References Source
enables metallopeptidase activity IDA
IDA: Inferred from direct assay
21370305 GOA
enables peptidase activity IDA
IDA: Inferred from direct assay
23845380 GOA
enables protease binding IPI
IPI: Inferred from physical interaction
14744861 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18718938 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
18042673 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular space IDA
IDA: Inferred from direct assay
14744861 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

ADAMTS4 Protein Structure

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (60 - 168)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (218 - 428)

TSP_1

TSP_1: Thrombospondin type 1 domain (524 - 574)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (687 - 803)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 837 a.a.
Protein Preferred Names Protein Names

A disintegrin and metalloproteinase with thrombospondin motifs 4

  • ADAM-TS 4

Related Diseases

Diseases Alias
Arthritis
  • Inflammatory Joint Disease

  • Inflammatory Disorder Of Joint

Osteoarthritis
  • Osteoarthrosis

  • Degenerative Joint Disease

  • Hypertrophic Arthritis

  • Arthropathy

  • Degenerative Polyarthritis

  • Degenerative Arthritis

  • Osteoarthrosis And Allied Disorder

  • Arthritis, Degenerative

  • Oa

  • Osteoarthritis Deformans

  • Osteoarthrosis Deformans

  • Kashin-Beck Disease

Chondrosarcoma
  • Cartilaginous Cancer

  • Chondrosarcoma Of Bone

  • Primary Chondrosarcoma Of The Bone

  • CHDSA

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

Spondyloepimetaphyseal Dysplasia, Missouri Type
  • Metaphyseal Anadysplasia 1

  • Semd, Missouri Type

  • Spondyloepimetaphyseal Dysplasia Type 2

  • SEMDM

  • Spondyloepimetaphyseal Dysplasia Missouri Type

  • Missouri Type Of Spondyloepimetaphyseal Dysplasia

  • Semd Missouri Type

  • Semd Type 2

  • MANDP1

  • Semd-Mo

  • Spondyloepimetaphyseal Dysplasia Type Missouri

  • Spondylometaepiphyseal Dysplasia Type Missouri

  • Anadysplasia, Metaphyseal, Type 1

Bone Deterioration Disease
Bone Structure Disease
Degenerative Disc Disease
  • Intervertebral Disc Degeneration

  • Cervical Disc Degenerative Disorder

  • Cervical Disc Degenerative Disease

  • Lumbar Disc Degeneration

  • Vertebral Disc Disease

  • Degeneration Of Lumbar Intervertebral Disc

  • Intervertebral Disc Disorder

  • Discogenic Disease

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

Cartilage Disease
  • Cartilage Diseases

  • Cartilage

  • Cartilage Disorder

  • Chondropathy

  • Cartilage Disorders

Spondylolisthesis
  • Slipped Vertebrae

  • Acquired Spondylolisthesis

Rheumatoid Arthritis
  • RA

  • Arthritis, Rheumatoid

  • Rheumatoid Arthritis, Susceptibility To

  • Arthritis Or Polyarthritis, Rheumatic

  • Atrophic Arthritis

  • Rheumatism Arthritis

  • Rheumatoid Polyarthritis

Collagen Disease
  • Collagen Diseases

  • Collagen Disorder

Winchester Syndrome
  • WNCHRS

  • Winchester Disease

  • Winchester-Grossman Syndrome

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

Deafness, Autosomal Recessive 110
  • DFNB110

  • Autosomal Recessive Nonsyndromic Deafness 110

  • Autosomal Recessive Deafness 110

  • Deafness, Autosomal Recessive, 110

Bone Inflammation Disease
  • Osteitis

  • Bone Inflammatory Disease

  • Inflammatory Disorder Of Bone

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

Ehlers-Danlos Syndrome
  • Eds

  • Cutis Hyperelastica

  • Elastic Skin

  • Ehlers-Danlos Syndromes

  • Ed Syndrome

  • Ehlers Danlos Syndrome

  • Ehlers Danlos Disease

  • Eds - [Ehlers-Danlos Syndrome]

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

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

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

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Connective Tissue Disease
  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders

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
Canis familiaris ADAMTS4 VGNC VGNC:37600
Mus musculus ADAMTS4 MGD MGI:1339949
Macaca mulatta ADAMTS4 VGNC VGNC:106316
Rattus norvegicus ADAMTS4 RGD RGD:621242
Felis catus ADAMTS4 VGNC VGNC:59595
Bos taurus ADAMTS4 VGNC VGNC:25627
Others ADAMTS4 NCBI