1. Gene
  2. MMP13 - matrix metallopeptidase 13 Gene

MMP13 - matrix metallopeptidase 13 Gene

中文名称:基质金属肽酶 13

种属: Homo sapiens

同用名: CLG3; MDST; MANDP1; MMP-13

基因 ID: 4322 | 基因类型: protein coding

关于 MMP13

Cytogenetic location: 11q22.2 Genomic coordinates (GRCh38): 11:102,942,995-102,955,732 (from NCBI)

This gene has 2 transcripts (splice variants), 203 orthologues, 23 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码基质金属蛋白酶 (MMP) 肽酶 M10 家族的成员。该家族中的蛋白质参与正常生理过程 (如胚胎发育、繁殖和组织重塑) 以及疾病过程 (如关节炎和转移) 中细胞外基质的分解。编码的前原蛋白经过蛋白水解处理以产生成熟的蛋白酶。这种蛋白酶比 I 型和 III 型更有效地切割 II 型胶原蛋白。它可能参与关节软骨更新和与骨关节炎相关的软骨病理生理学。该基因的突变与干骺端发育不良有关。该基因是 11 号染色体上 MMP 基因簇的一部分。[RefSeq 提供,2016 年 1 月]

This gene encodes a member of the peptidase M10 family of Matrix Metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature Protease. This Protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

MMP13 基因产物(1)

mRNA Protein Name
NM_002427.4 NP_002418.1 collagenase 3 preproprotein
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium ion binding IDA
IDA: 通过直接分析推断
23913860 GOA
enables collagen binding IDA
IDA: 通过直接分析推断
9065415 GOA
enables endopeptidase activity IDA
IDA: 通过直接分析推断
18164633 GOA
enables metalloendopeptidase activity IDA
IDA: 通过直接分析推断
8576151 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
23913860 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bone morphogenesis IDA
IDA: 通过直接分析推断
16167086 GOA
involved in collagen catabolic process IDA
IDA: 通过直接分析推断
8576151 GOA
involved in extracellular matrix disassembly IMP
IMP: 通过突变表型推断
8576151 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MMP13 蛋白结构

PG_binding_1

PG_binding_1: Putative peptidoglycan binding domain (33 - 91)

Peptidase_M10

Peptidase_M10: Matrixin (112 - 267)

Hemopexin

Hemopexin: Hemopexin (290 - 331)

Hemopexin

Hemopexin: Hemopexin (334 - 376)

Hemopexin

Hemopexin: Hemopexin (382 - 428)

Hemopexin

Hemopexin: Hemopexin (431 - 466)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 471 a.a.
蛋白主名 其他名称

collagenase 3

matrix metalloproteinase 13 (collagenase 3)

关联疾病

疾病名称 别名
Exostosis

Osteophyte

Orbital Exostosis

Exostoses

Exostosis Of Orbit

Bone Spur

Bony Outgrowth

Swimmer'S Exostosis

Osteophytes

External Exotoses

Cartilaginous Exostosis

Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders

Cleidocranial Dysplasia

Cleidocranial Dysostosis

CLCD

Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

CCD

Marie-Sainton Disease

Dysplasia Cleidocranial

Dento-Osseous Dysplasia

Marie-Sainton Syndrome

Dysplasia, Cleidocranial

Osteochondrodysplasia

Chondrodystrophy

Skeletal Dysplasia

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Type 1 Diabetes Mellitus 21

Diabetes Mellitus, Insulin-Dependent, 21

Iddm21

T1D21

Insulin-Dependent Diabetes Mellitus 21

Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System

Synovitis
Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Coxa Vara
Tendinitis

Tendinopathy

Polyhydramnios
Septic Arthritis

Infectious Arthritis

Arthritis, Infectious

Arthritis Septic

Arthritis, Bacterial

Spinal Stenosis

Lumbar Spinal Stenosis

Cervical Spinal Stenosis

Spinal Stenosis Of Lumbar Region

Spinal Stenosis In Cervical Region

Spinal Canal Stenosis

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Scoliosis
Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Enchondromatosis, Multiple, Ollier Type

Ollier Disease

Enchondromatosis

Dyschondroplasia

Osteochondromatosis

Multiple Cartilaginous Enchondroses

Multiple Enchondromatosis

Enchondromatosis With Haemangiomata

Enchondromatosis, Multiple

Kast'S Syndrome

Ollier'S Syndrome

Enchondromatosis Multiple

ENCHOM

Maffucci Disease

Olliers Disease

Hereditary Multiple Exostoses

Chondromatosis

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

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Periapical Granuloma

Apical Granuloma

Chondrosarcoma

Cartilaginous Cancer

Chondrosarcoma Of Bone

Primary Chondrosarcoma Of The Bone

CHDSA

Osteochondrosis

Osteochondritis

Apophysitis

Epiphysitis

Osteochondritis Juvenilis

Epiphyseal Necrosis

Juvenile Osteochondrosis Of Tibial Tubercle

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Periapical Periodontitis

Apical Periodontitis

Periodontitis Apical

Squamous Cell Carcinoma, Head And Neck

Squamous Cell Carcinoma Of The Head And Neck

HNSCC

Head And Neck Squamous Cell Carcinoma

Head And Neck Cancer

Squamous Cell Carcinoma Of Lip

Squamous Cell Carcinoma, Head And Neck, Somatic

Carcinoma Of The Head And Neck

Squamous Cell Carcinomas Of Head And Neck

Scchn

Squamous Cell Carcinoma Of The Hypopharynx

Squamous Cell Carcinoma Of The Oropharynx

Squamous Cell Carcinoma Of Salivary Glands

Squamous Cell Carcinoma Of The Nasal Cavity And Paranasal Sinuses

Squamous Cell Carcinoma Of The Nasal Cavity And Sinuses

Squamous Cell Carcinoma Of The Oral Cavity

Squamous Cell Carcinoma Of The Lip

Carcinoma, Squamous Cell Of Head And Neck

Lip Squamous Cell Carcinoma

Cancer, Head/Neck

Carcinoma, Squamous Cell, Head And Neck

Salivary Gland Squamous Cell Carcinoma

Cancer Of Head And Neck

Squamous Cell Carcinoma Of Oropharynx Nos

Bone Deterioration Disease
Metaphyseal Anadysplasia

Regressive Metaphyseal Dysplasia

Early-Onset Regressive Form Of Metaphyseal Dysplasia

Mad

Maroteaux Verloes Stanescu Syndrome

Maroteaux-Verloes-Stanescu Syndrome

Chronic Ulcer Of Skin

Chronic Wounds

Callous Ulcer

Indolent Ulcer

Chronic Ulcer

Dental Caries

Dental Caries Extending Into Pulp

Dental Caries Of Smooth Surface

Dental Caries Pit And Fissure

Smooth Surface Dental Caries

Dental Decay

Carious Teeth

Dental Cavity

Saprodontia

Teeth Decayed

Tooth Caries

Tooth Decay

Aortic Aneurysm

Aortic Rupture

Thoracoabdominal Aortic Aneurysm, Ruptured

Ruptured Aortic Aneurysm

Aortic Aneurysms

Aortic Aneurysm Without Mention Of Rupture Nos

Ruptured Abdominal Aortic Aneurysm

Aortic Aneurysm, Ruptured

Ruptured Thoracic Aortic Aneurysm

Metaphyseal Dysplasia, Spahr Type

Metaphyseal Chondrodysplasia, Spahr Type

MDST

Metaphyseal Chondrodysplasia Spahr Type

Spahr Type Metaphyseal Chondrodysplasia

Mcds

Dysplasia, Metaphyseal, Spahr Type

Metaphyseal Chondrodysplasia Schmid Type

Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening

Malignant Peripheral Nerve Sheath Tumor

Mpnst

Malignant Neurilemmoma

Neurofibrosarcoma

Malignant Neurofibroma

Malignant Schwannoma

Neurogenic Sarcoma

Malignant Neoplasm Of The Peripheral Nerve Sheath

Schwannoma, Malignant

Malignant Peripheral Nerve Sheath Tumors

Aortic Aneurysm, Familial Abdominal, 1

Abdominal Aortic Aneurysm

Aortic Aneurysm, Familial Abdominal 1

Aneurysm, Abdominal Aortic

AAA

Aortic Aneurysm, Abdominal

AAA1

Aortic Aneurysm, Familial Abdominal

Aortic Aneurysm Abdominal

Abdominal Aortic Aneurysms

Abdominal Aortic Aneurysm Without Mention Of Perforation Or Rupture

Abdomen Aneurysm

Abdominal Aorta Aneurysm

Aneurysm Of Abdominal Aorta

Aortic Abdomen Aneurysm

Aaa - [Abdominal Aortic Aneurysm]

Abdominal Aneurysm

Abdominal Aorta Aneurysm Rupture

Abdominal Aorta Aneurysm Ruptured

Abdominal Aortic Aneurysm Which Has Ruptured

Ruptured Aaa

Abdomen Aorta Aneurysm Ruptured

Abdomen Aorta Rupture

Abdomen Aortic Aneurysm Rupture

Abdomen Aneurysm Rupture

Abdomen Aortic Aneurysm Ruptured

Abdomen Aortic Rupture

Abdominal Aorta Rupture

Abdominal Aortic Rupture

Rupture Abdomen Aorta Aneurysm

Rupture Abdominal Aortic Aneurysm

Ruptured Abdomen Aneurysm

Ruptured Abdomen Aorta

Ruptured Abdomen Aortic

Ruptured Abdominal Aneurysm

Ruptured Abdominal Aorta

Ruptured Abdominal Aortic

Ruptured Aorta Abdominalis Aneurysm

False Abdomen Aorta Aneurysm Ruptured

False Abdominal Aortic Aneurysm Ruptured

False Abdominal Aorta Aneurysm Ruptured

False Abdomen Aortic Aneurysm Ruptured

Metaphyseal Dysplasia

Bakwin-Krida Syndrome

Pyle'S Disease

Pyle-Cohn Syndrome

Cartilage Disease

Cartilage Diseases

Cartilage Disorder

Chondropathy

Cartilage Disorders

Cartilage

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

Bone Structure Disease
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

Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]

Periodontitis

Chronic Pericementitis

Chronic Periodontitis

Spondylolisthesis

Slipped Vertebrae

Acquired Spondylolisthesis

Basal Cell Carcinoma

Basal Cell Cancer

Basal Cell Neoplasm

Basal Cell Carcinoma Of Skin

Malignant Basal Cell Tumor

Basal Cell Tumor

Epithelioma Basal Cell

Malignant Basal Cell Neoplasm

Rodent Ulcer

Carcinoma Basal Cell

Neoplasms, Basal Cell

Basal Cell Carcinomas

Experimental Organism Basal Cell Carcinoma

Nodulo-Ulcerative Basal Cell Carcinoma

Basalioma

Basal Cell Epithelioma Of Skin

Bcc - [Basal Cell Carcinoma] Of Skin

Rodent Ulcer Of Skin

Rodent Ulcer Of Unspecified Site

Basal Cell Epithelioma Of Unspecified Site

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

Osteochondritis Dissecans

Osteochondritis

Ocd

Konig Disease

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Plexiform Neurofibroma

Neurofibroma Plexiform

Neurofibroma, Plexiform

Bone Inflammation Disease

Osteitis

Bone Inflammatory Disease

Inflammatory Disorder Of Bone

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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
Mus musculus MMP13 MGD MGI:1340026
Macaca mulatta MMP13 VGNC VGNC:74891
Bos taurus MMP13 VGNC VGNC:31518
Rattus norvegicus MMP13 RGD RGD:620196
Canis familiaris MMP13 VGNC VGNC:43276
Felis catus MMP13 VGNC VGNC:68281
Others MMP13 NCBI