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This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
[中文简述(自动翻译):]  该基因编码I型胶原类型的亲的α2链的三螺旋结构包括两个ALPHA1链和一个α2链。 I型在大多数结缔组织发现原纤维形成的胶原蛋白,并在骨,角膜,真皮和肌腱丰富。在这个基因的突变与成骨不全症类型I-IV,埃勒斯 - 当洛综合征型VIIB,隐性埃勒斯 - 当洛综合征古典型,特发性骨质疏松症和非典型马凡氏综合征。与此基因的突变相关的症状,但是,往往比在基因为I型胶原蛋白(COL1A1)的α1链突变较不严重反射的α2链的基质完整性的不同的作用。三转录,从使用备用聚腺苷酸化信号的产生,已经确定了该基因。 [由R.达格利什,2008年2月提供]
COL1A2基因(以及对应的蛋白质)的细胞分布位置:
COL1A2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Osteogenesis imperfecta type III (disorder) | 0.561357209 | 18 | 14 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Osteogenesis imperfecta type IV (disorder) | 0.483257302 | 20 | 9 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Ehlers-Danlos syndrome, cardiac valvular form | 0.36 | 1 | 4 | CLINVAR_CTD_human_ORPHANET |
Osteogenesis imperfecta, dominant perinatal lethal | 0.242985861 | 23 | 0 | BeFree_CTD_human_UNIPROT |
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE | 0.24 | 0 | 0 | CTD_human_ORPHANET |
Osteogenesis Imperfecta | 0.184706362 | 156 | 14 | BeFree_CLINVAR_GAD_LHGDN |
Osteoporosis | 0.123724241 | 6 | 0 | BeFree_CTD_human_GAD |
Lobstein's Disease | 0.122985861 | 15 | 0 | BeFree_UNIPROT |
Oral Submucous Fibrosis | 0.122638474 | 3 | 0 | BeFree_CTD_human_GAD |
Degenerative polyarthritis | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Osteoporosis, Postmenopausal | 0.120271442 | 1 | 1 | BeFree_CLINVAR |
Spontaneous abortion | 0.12 | 1 | 0 | CTD_human |
Fibrosis | 0.12 | 1 | 0 | CTD_human |
Heart valve disease | 0.12 | 1 | 0 | CTD_human |
Osteogenesis imperfecta, recessive perinatal lethal | 0.12 | 0 | 12 | CLINVAR |
EDS VIIB | 0.12 | 0 | 3 | CLINVAR |
Pulmonary Fibrosis | 0.080814326 | 4 | 0 | BeFree_RGD |
Hypothyroidism | 0.08 | 1 | 0 | RGD |
Liver Cirrhosis, Experimental | 0.08 | 1 | 0 | RGD |
Muscular Atrophy | 0.08 | 1 | 0 | RGD |
Ureteral obstruction | 0.08 | 1 | 0 | RGD |
Liver Failure, Acute | 0.08 | 1 | 0 | RGD |
Intracranial Aneurysm | 0.014178448 | 7 | 1 | BeFree_GAD_LHGDN |
Ehlers-Danlos Syndrome | 0.012777631 | 27 | 0 | BeFree_LHGDN |
Systemic Scleroderma | 0.009434452 | 17 | 0 | BeFree_GAD_LHGDN |
Premature Birth | 0.007101096 | 3 | 0 | GAD |
Dental Fluorosis, Acquired | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
Chorioamnionitis | 0.004734064 | 2 | 0 | GAD |
Fetal Membranes, Premature Rupture | 0.004734064 | 2 | 0 | GAD |
Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.004734064 | 2 | 0 | GAD |
Connective Tissue Diseases | 0.003995683 | 7 | 0 | BeFree_GAD |
Medulloblastoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Liver Cirrhosis | 0.00272435 | 1 | 0 | LHGDN |
Neuroectodermal Tumor, Primitive | 0.00272435 | 1 | 0 | LHGDN |
Mammary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Dermatologic disorders | 0.002638474 | 2 | 0 | BeFree_GAD |
Cerebrovascular accident | 0.002638474 | 1 | 0 | BeFree_GAD |
Scleroderma | 0.002442977 | 9 | 0 | BeFree |
Cardiovascular Diseases | 0.002367032 | 1 | 0 | GAD |
Carotid Stenosis | 0.002367032 | 1 | 0 | GAD |
Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
Inflammation | 0.002367032 | 1 | 0 | GAD |
Intervertebral Disk Displacement | 0.002367032 | 1 | 0 | GAD |
Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Musculoskeletal Diseases | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Pregnancy Complications, Hematologic | 0.002367032 | 1 | 0 | GAD |
Brain Aneurysm | 0.002367032 | 1 | 0 | GAD |
Vital Capacity Adverse Event | 0.002367032 | 1 | 1 | GAD |
Marfan Syndrome | 0.001628651 | 6 | 0 | BeFree |
Increased susceptibility to fractures | 0.001628651 | 6 | 0 | BeFree |
Keloid | 0.001357209 | 5 | 0 | BeFree |
Cystic Fibrosis | 0.001085767 | 4 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000814326 | 3 | 0 | BeFree |
Fibrosis, Liver | 0.000814326 | 3 | 0 | BeFree |
Blue sclera | 0.000814326 | 3 | 0 | BeFree |
Dentinogenesis Imperfecta | 0.000542884 | 2 | 0 | BeFree |
Dwarfism | 0.000542884 | 2 | 0 | BeFree |
Hypodontia | 0.000542884 | 2 | 1 | BeFree |
Otosclerosis | 0.000542884 | 2 | 0 | BeFree |
Localized scleroderma | 0.000542884 | 2 | 0 | BeFree |
Cicatrix, Hypertrophic | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hypertrophic Cardiomyopathy | 0.000271442 | 1 | 0 | BeFree |
Collagen Diseases | 0.000271442 | 1 | 0 | BeFree |
Contracture | 0.000271442 | 1 | 0 | BeFree |
Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
Camurati-Engelmann Syndrome | 0.000271442 | 1 | 0 | BeFree |
Fasciitis | 0.000271442 | 1 | 0 | BeFree |
Ovarian Cysts | 0.000271442 | 1 | 0 | BeFree |
Scheuermann's Disease | 0.000271442 | 1 | 0 | BeFree |
Trisomy | 0.000271442 | 1 | 0 | BeFree |
Arachnoid Cysts | 0.000271442 | 1 | 1 | BeFree |
Joint laxity | 0.000271442 | 1 | 0 | BeFree |
Rous Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Left Ventricular Hypertrophy | 0.000271442 | 1 | 0 | BeFree |
Aortic Aneurysm, Abdominal | 0.000271442 | 1 | 0 | BeFree |
Generalized morphea | 0.000271442 | 1 | 0 | BeFree |
Ehlers-Danlos syndrome type 1 | 0.000271442 | 1 | 0 | BeFree |
Ehlers-Danlos Syndrome, Type IV | 0.000271442 | 1 | 0 | BeFree |
Osteogenesis imperfecta with blue sclerae AND normal teeth | 0.000271442 | 1 | 0 | BeFree |
Dissection of aorta | 0.000271442 | 1 | 0 | BeFree |
Adolescent idiopathic scoliosis | 0.000271442 | 1 | 0 | BeFree |
Deformity of bone | 0.000271442 | 1 | 0 | BeFree |
Hereditary Connective Tissue Disorder | 0.000271442 | 1 | 0 | BeFree |
Trisomy 11 | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
Lipoblastoma | 0.000271442 | 1 | 0 | BeFree |
Primary Lesion | 0.000271442 | 1 | 0 | BeFree |
Brittle Bone Disorder | 0.000271442 | 1 | 0 | BeFree |
Nephropathic cystinosis | 0.000271442 | 1 | 0 | BeFree |
Old thrombus | 0.000271442 | 1 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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