1. Gene
  2. COMP - cartilage oligomeric matrix protein Gene

COMP - cartilage oligomeric matrix protein Gene

中文名称:软骨寡聚基质蛋白

种属: Homo sapiens

同用名: MED; CTS2; EDM1; EPD1; TSP5; PSACH; THBS5

基因 ID: 1311 | 基因类型: protein coding

关于 COMP

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,782,773-18,791,305 (from NCBI)

This gene has 4 transcripts (splice variants), 198 orthologues, 5 paralogues and is associated with 6 phenotypes. Biased expression in gall bladder (RPKM 9.2), urinary bladder (RPKM 5.7) and 11 other tissues.

功能概要

该基因编码的蛋白质是一种非胶原细胞外基质 (ECM) 蛋白。它由五个相同的糖蛋白亚基组成,每个亚基都具有 EGF 样和钙结合 (血小板反应蛋白样) 结构域。低聚反应是由五股盘绕螺旋和二硫化物的形成引起的。与其他 ECM 蛋白 (如胶原蛋白) 的结合似乎取决于二价阳离子。 5 aa 天冬氨酸重复序列的收缩或扩展和其他突变可导致假性软骨发育不良 (PSACH) 和多发性骨骺发育不良 (MED) 。[RefSeq 提供,2016 年 7 月]

The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]

COMP 基因产物(1)

mRNA Protein Name
NM_000095.3 NP_000086.2 cartilage oligomeric matrix protein precursor

COMP 蛋白结构

COMP

COMP: Cartilage oligomeric matrix protein (29 - 73)

EGF_CA

EGF_CA: Calcium-binding EGF domain (127 - 161)

EGF_CA

EGF_CA: Calcium-binding EGF domain (180 - 221)

TSP_3

TSP_3: Thrombospondin type 3 repeat (301 - 336)

TSP_3

TSP_3: Thrombospondin type 3 repeat (360 - 395)

TSP_3

TSP_3: Thrombospondin type 3 repeat (395 - 418)

TSP_3

TSP_3: Thrombospondin type 3 repeat (420 - 456)

TSP_3

TSP_3: Thrombospondin type 3 repeat (457 - 492)

TSP_3

TSP_3: Thrombospondin type 3 repeat (493 - 527)

TSP_C

TSP_C: Thrombospondin C-terminal region (546 - 746)

  • 0
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  • 600
  • 757 a.a.
蛋白主名 其他名称

cartilage oligomeric matrix protein

cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)

重组 COMP 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72945 COMP Protein, Human (HEK293, His) P49747 (Q21-A757) ≥95%

关联疾病

疾病名称 别名
Pseudoachondroplasia

PSACH

Pseudoachondroplastic Dysplasia

Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome

Spondyloepiphyseal Dysplasia, Pseudoachondroplastic

Pseudoachondroplastic Spondyloepiphyseal Dysplasia

Spondyloepiphyseal Dysplasia Pseudoachondroplastic

Epiphyseal Dysplasia, Multiple, 1

EDM1

Multiple Epiphyseal Dysplasia 1

Multiple Epiphyseal Dysplasia Type 1

Med1

Multiple Epiphyseal Dysplasia Comp-Related

Polyepiphyseal Dysplasia Type 1

Multiple Epiphyseal Dysplasia, Comp-Related

Epiphyseal Dysplasia Multiple 1

Epiphyseal Dysplasia, Multiple 1

Dysplasia, Epiphyseal, Multiple, Type 1

Carpal Tunnel Syndrome 2

CTS2

Multiple Epiphyseal Dysplasia

Med

Polyepiphyseal Dysplasia

Edm

Epiphyseal Dysplasia, Multiple, 1

Epiphyseal Dysplasia, Multiple, 2

Epiphyseal Dysplasia, Multiple, 3

Epiphyseal Dysplasia, Multiple, 4

Epiphyseal Dysplasia, Multiple, 5

Epiphyseal Dysplasia, Multiple

Edm1

Edm2

Edm3

Edm4

Edm5

Epiphyseal Dysplasia, Fairbank Type

Epiphyseal Dysplasia, Ribbing Type

Multiple Epiphyseal Dysplasia, Autosomal Dominant

Multiple Epiphyseal Dysplasia, Autosomal Recessive

Rmed

Dysplasia, Epiphyseal, Multiple

Osteochondrodysplasias

Relapsing Polychondritis

Polychondropathia

Polychondritis, Relapsing

Chondromalacia, Systemic

Chronic Atrophic Polychondritis

Recurrent Polychondritis

Polychondritis Relapsing

Carpal Tunnel Syndrome

Cts

Carpal Tunnel Syndrome, Familial

Carpal Tunnel Syndrome 1

CTS1

Amyotrophy, Thenar, Of Carpal Origin

Carpal Tunnel Median Neuropathy

Cts - Carpal Tunnel Syndrome

Median Nerve Entrapment

Carpal Canal

Carpal Tunnel

Compression Neuropathy, Carpal Tunnel

Distal Median Nerve Compression

Distal Median Nerve Entrapment

Entrapment Neuropathy, Carpal Tunnel

Median Neuropathy, Carpal Tunnel

Median Neuropathy Carpal Tunnel

Thenar Amyotrophy Of Crapal Origin

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

Synovitis
Diastrophic Dysplasia

Diastrophic Dwarfism

DTD

Dd

Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant

Dysplasia, Diastrophic

Diastrophic Dysplasia Variant

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia Congenita

SEDC

Sed Congenita

Spondyloepiphyseal Dysplasia, Congenital Type

Late Spondyloepiphyseal Dysplasia

Sed, Congenital Type

Congenital Spondyloepiphyseal Dysplasia

Spranger-Wiedemann Disease

Spondyloepiphyseal Dysplasia Congenital Type

Dysplasia, Spondyloepiphyseal, Congenita

Spondyloepiphyseal Dysplasia, Congenita

Spondyloepiphyseal Dysplasia Tarda, X-Linked

Arthropathy

Ankylosis Of Ankle And Foot Joint

Ankylosis Of Forearm Joint

Ankylosis Of Hand Joint

Ankylosis Of Joint Of Ankle And/Or Foot

Ankylosis Of Joint Of Forearm

Ankylosis Of Joint Of Hand

Ankylosis Of Joint Of Lower Leg

Ankylosis Of Joint Of Multiple Sites

Ankylosis Of Joint Of Pelvic Region And Thigh

Ankylosis Of Joint Of Shoulder Region

Ankylosis Of Joint Of Upper Arm

Ankylosis Of Lower Leg Joint

Ankylosis Of Multiple Joints

Ankylosis Of Upper Arm Joint

Infectious Arthropathy

Joint Ankylosis Of The Ankle And Foot

Joint Ankylosis Of The Ankle And/Or Foot

Joint Ankylosis Of The Forearm

Joint Ankylosis Of The Hand

Joint Ankylosis Of The Lower Leg

Joint Ankylosis Of The Pelvic Region And Thigh

Joint Ankylosis Of The Shoulder Region

Joint Ankylosis Of The Upper Arm

Joint Diseases

Joint Disease

Arthropathy Associated With Infection

Osteochondritis Dissecans

Osteochondritis

Ocd

Konig Disease

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Psoriatic Arthritis

Psoriatic Arthritis, Susceptibility To

Psoriatic Arthropathy

Arthropathic Psoriasis

Arthritis, Psoriatic

Arthritis Psoriatica

PSORAS

Arthritic Psoriasis

Psoriasis Arthropathica

Arthritis Psoriatic

Arthritis, Psoriatic, Susceptibility To

Thanatophoric Dysplasia, Type I

Thanatophoric Dysplasia

Thanatophoric Dwarfism

Thanatophoric Dysplasia Type 1

TD1

Td

Thanatophoric Short Stature

Thanatophoric Dwarfism Type 1

Thanatophoric Dysplasia Type I

Platyspondylic Lethal Skeletal Dysplasia, San Diego Type

Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type

Skeletal Dysplasia, San Diego Type

Plsd San Diego Type

Thanatophoric Dwarfism 1

Dwarfism Thanatophoric

Dwarf, Thanatophoric

Thanatophoric Dysplasia 1

Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type

Platyspondylic Lethal Skeletal Dysplasia San Diego Type

Thanatophoric Dwarf

Thanatophoric Dwarfism Or Short Stature

Thanatophoric Dwarfism Syndrome

Td - [Thanatophoric Dwarfism]

Spondyloepimetaphyseal Dysplasia, Strudwick Type

Spondylometaphyseal Dysplasia

Strudwick Syndrome

Dappled Metaphysis Syndrome

Semd, Strudwick Type

Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type

Smed, Strudwick Type

Smd

Smed Strudwick Type

SEMDSTWK

Smed, Type I

Semdc

Smed Type 1

Spondyloepimetaphyseal Dysplasia Strudwick Type

Sed Strudwick

Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type

Smed Type I

Spondyloepiphyseal Dysplasia Congenita With Dappled Metaphyses

Dysplasia, Spondyloepimetaphyseal, Strudwick Type

Dysplasia, Spondylometaphyseal

Brachydactyly
Reactive Arthritis

Postdysenteric Arthropathy

Reiter Disease

Pira

Reiter Syndrome

Reiters Syndrome

Arthritis, Reactive

Fiessinger Leroy Reiter Syndrome

Post-Bacterial Arthropathy

Reiter'S Disease

Post-Infectious Arthritis

Post-Infectious Reactive Arthropathy

Reiter'S Syndrome

Arthritis Urethritica

Fiessinger-Leroy Disease

Polyarthritis Enterica

Venereal Arthritis

Arthritis Reactive

Post-Dysenteric Arthropathy

Arthritis, Venereal

Bone Chondrosarcoma
Epiphyseal Dysplasia, Multiple, 5

EDM5

Multiple Epiphyseal Dysplasia 5

Bhmed

Multiple Epiphyseal Dysplasia Type 5

Multiple Epiphyseal Dysplasia, Matn3-Related

Microepiphyseal Dysplasia, Bilateral Hereditary

Bilateral Hereditary Microepiphyseal Dysplasia

Multiple Epiphyseal Dysplasia Matn3-Related

Epiphyseal Dysplasia Multiple 5

Multiple Epiphyseal Dysplasia, Matn3 Related

Bilateral Hereditary Micro-Epiphyseal Dysplasia

Med5

Polyepiphyseal Dysplasia Type 5

Dysplasia, Epiphyseal, Multiple, Type 5

Platyspondylic Lethal Skeletal Dysplasia, Torrance Type

PLSD-T

PLSDT

Platyspondylic Dysplasia, Torrance Type

Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type

Thanatophoric Dysplasia, Torrance Variant

Platyspondylic Skeletal Dysplasia, Torrance Type

Torrance Type Platyspondylic Dysplasia

Platyspondylic Dysplasia, Torrance-Luton Type

Platyspondylic Lethal Skeletal Dysplasia Torrance Type

Lethal Short-Limbed Platyspondylic Dwarfism Torrance Type

Thanatophoric Dysplasia Torrance Variant

Platyspondylic Chondrodysplasia, Torrance-Luton Type

Plsd-Tl

Dysplasia, Skeletal, Platyspondylic, Torrance Type

Cartilage Disease

Cartilage Diseases

Cartilage

Cartilage Disorder

Chondropathy

Cartilage Disorders

Achondroplasia

Achondroplastic Dwarfism

ACH

Osteosclerosis Congenita

Achondroplastic Physique

Chondrodystrophia

Dwarf, Achondroplastic

Achondroplastic Short Stature

Congenital Osteosclerosis

Chondromalacia

Chondromalacia, Unspecified Site

Chondromalacia Nos

Achondrogenesis, Type Ii

Achondrogenesis Type Ii

ACG2

Achondrogenesis, Langer-Saldino Type

Achondrogenesis Type 2

Chondrogenesis Imperfecta

Achondrogenesis, Type Ib, Formerly

Achondrogenesis, Type Ii Or Hypochondrogenesis

Achondrogenesis 2

Acg-Ii

Achondrogenesis-Hypochondrogenesis Type Ii

Achondrogenesis Langer-Saldino Type

Achondrogenesis-Hypochondrogenesis, Type Ii

Hypochondrogenesis

Tendinitis

Tendinopathy

Epiphyseal Dysplasia, Multiple, 4

EDM4

Multiple Epiphyseal Dysplasia 4

Multiple Epiphyseal Dysplasia With Clubfoot

Multiple Epiphyseal Dysplasia Type 4

Multiple Epiphyseal Dysplasia, Autosomal Recessive

Multiple Epiphyseal Dysplasia With Bilayered Patellae

Med4

Polyepiphyseal Dysplasia Type 4

Rmed

Autosomal Recessive Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Bilateral Patellae

Epiphyseal Dysplasia Multiple 4

Multiple Epiphyseal Dysplasia With Double-Layered Patella

Dysplasia, Epiphyseal, Multiple, Type 4

Patella, Chondromalacia Of

Chondromalacia Patellae

Chondromalacia Of Patella

Softening Of Articular Cartilage Of Patella

Patellofemoral Pain Syndrome

Patellofemoral Chondromalacia

Bone Development Disease
Hypochondrogenesis

Achondrogenesis Type Ii/Hypochondrogenesis

Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System

Osteochondrosis

Osteochondritis

Apophysitis

Epiphysitis

Osteochondritis Juvenilis

Epiphyseal Necrosis

Juvenile Osteochondrosis Of Tibial Tubercle

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Kniest Dysplasia

Kniest Syndrome

Metatropic Dwarfism, Type Ii

Kniest Chondrodystrophy

Metatropic Dysplasia Type Ii

Swiss Cheese Cartilage Dysplasia

KD

Ks

Metatropic Dwarfism Type Ii

Dysplasia, Kniest

Achondrogenesis

Achondrogenesis Syndrome

Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita

Scoliosis
Bone Inflammation Disease

Osteitis

Bone Inflammatory Disease

Inflammatory Disorder Of Bone

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Limited Scleroderma

Limited Cutaneous Systemic Sclerosis

Limited Systemic Sclerosis

Systemic Sclerosis Sine Scleroderma

Crest Syndrome

Limited Cutaneous Systemic Scleroderma

Scleroderma, Limited

Systemic Sclerosis, Limited

Progressive Systemic Sclerosis Sine Scleroderma

Scleroderma, Sine

Crest - [Calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, And Telangiectasia] Syndrome

Crst - [Calcinosis, Raynaud Phenomenon, Sclerodactyly And Telangiectasia] Syndrome

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

Myopathy

Muscular Diseases

Myopathies

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Bos taurus COMP VGNC VGNC:27590
Macaca mulatta COMP VGNC VGNC:71310
Canis familiaris COMP VGNC VGNC:39500
Rattus norvegicus COMP RGD RGD:2378
Mus musculus COMP MGD MGI:88469
Felis catus COMP VGNC VGNC:61078
Macaca fascicularis COMP NCBI NCBI:101867220
Susscrofa domestica COMP NCBI
Others COMP NCBI