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This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
[中文简述(自动翻译):]  该基因编码在发现与主要组织相容性复合体(MHC)I类重链几乎所有有核细胞的表面上的血清蛋白。该蛋白质具有主要的β-折叠片结构可以形成在某些病理条件下淀粉样蛋白原纤维。所编码的抗微生物蛋白显示在羊水的抗菌活性。在这个基因的突变已显示导致hypercatabolic低蛋白血症。[通过的RefSeq,2014年8月提供]
B2M基因(以及对应的蛋白质)的细胞分布位置:
B2M基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hypoproteinemia, Hypercatabolic | 0.360271442 | 1 | 1 | BeFree_CLINVAR_CTD_human_UNIPROT |
Acute kidney injury | 0.2 | 3 | 0 | CTD_human_RGD |
Prostatic Neoplasms | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
Kidney Diseases | 0.120542884 | 5 | 0 | BeFree_CTD_human |
Diffuse Large B-Cell Lymphoma | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Autoimmune Diseases | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Heart Diseases | 0.12 | 1 | 0 | CTD_human |
Hypergammaglobulinemia | 0.12 | 1 | 0 | CTD_human |
Peripheral T-Cell Lymphoma | 0.12 | 1 | 0 | CTD_human |
Amyloidosis, familial visceral | 0.12 | 0 | 1 | CLINVAR |
Squamous cell carcinoma of esophagus | 0.12 | 1 | 0 | CTD_human |
Bare Lymphocyte Syndrome, Type I | 0.12 | 0 | 0 | ORPHANET |
Liver Cirrhosis, Experimental | 0.08 | 1 | 0 | RGD |
Pyelonephritis | 0.08 | 1 | 0 | RGD |
Ureteral obstruction | 0.08 | 1 | 0 | RGD |
Multiple Myeloma | 0.009520329 | 17 | 0 | BeFree_LHGDN |
Neoplasm Metastasis | 0.008444493 | 4 | 0 | BeFree_LHGDN |
melanoma | 0.008434561 | 13 | 0 | BeFree_LHGDN |
Amyloidosis | 0.007620235 | 10 | 0 | BeFree_LHGDN |
Degenerative polyarthritis | 0.005362824 | 3 | 0 | BeFree_GAD_LHGDN |
HIV Infections | 0.004071628 | 15 | 0 | BeFree |
Renal Cell Carcinoma | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Carpal Tunnel Syndrome | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Colonic Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Lymphoma, Follicular | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Cytomegalovirus Infections | 0.00272435 | 1 | 0 | LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.00272435 | 1 | 0 | LHGDN |
Leukemia, Myelocytic, Acute | 0.00272435 | 1 | 0 | LHGDN |
B-Cell Lymphomas | 0.00272435 | 1 | 0 | LHGDN |
Rheumatoid Arthritis | 0.002367032 | 1 | 0 | GAD |
Diabetes Mellitus, Insulin-Dependent | 0.002367032 | 1 | 0 | GAD |
Gastritis | 0.002367032 | 1 | 0 | GAD |
Parkinson Disease | 0.002367032 | 1 | 0 | GAD |
Stomach Neoplasms | 0.002367032 | 1 | 0 | GAD |
Neuroblastoma | 0.001900093 | 7 | 0 | BeFree |
Central neuroblastoma | 0.001900093 | 7 | 0 | BeFree |
Congenital chromosomal disease | 0.001628651 | 6 | 0 | BeFree |
Malignant neoplasm of breast | 0.001357209 | 5 | 0 | BeFree |
Lymphoma | 0.001085767 | 4 | 0 | BeFree |
Plasmacytosis | 0.001085767 | 4 | 0 | BeFree |
Plasma cell inflammation | 0.001085767 | 4 | 0 | BeFree |
Breast Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Colon Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Inflammatory disorder | 0.001085767 | 4 | 0 | BeFree |
Malignant tumor of colon | 0.000814326 | 3 | 0 | BeFree |
Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000814326 | 3 | 0 | BeFree |
Systemic amyloidosis | 0.000814326 | 3 | 0 | BeFree |
Hemodialysis-associated amyloidosis | 0.000814326 | 3 | 0 | BeFree |
Primary Systemic Amyloidosis | 0.000814326 | 3 | 0 | BeFree |
Iron Overload | 0.000814326 | 3 | 0 | BeFree |
Colorectal Cancer | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Ulcerative Colitis | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
Hemochromatosis | 0.000542884 | 2 | 1 | BeFree |
Hepatitis, Chronic | 0.000542884 | 2 | 0 | BeFree |
leukemia | 0.000542884 | 2 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000542884 | 2 | 0 | BeFree |
Leukemia, Plasma Cell | 0.000542884 | 2 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000542884 | 2 | 0 | BeFree |
Monosomy | 0.000542884 | 2 | 0 | BeFree |
Kidney Failure | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
Bare Lymphocyte Syndrome | 0.000542884 | 2 | 0 | BeFree |
Primary amyloidosis | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Hereditary hemochromatosis | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Ewings sarcoma-primitive neuroectodermal tumor (PNET) | 0.000542884 | 2 | 0 | BeFree |
Renal carcinoma | 0.000542884 | 2 | 0 | BeFree |
Bare lymphocyte syndrome 2 | 0.000542884 | 2 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000542884 | 2 | 0 | BeFree |
Plaque, Amyloid | 0.000542884 | 2 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Oral candidiasis | 0.000271442 | 1 | 0 | BeFree |
Choriocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Colitis | 0.000271442 | 1 | 0 | BeFree |
Constitutional Symptom | 0.000271442 | 1 | 0 | BeFree |
Endometriosis | 0.000271442 | 1 | 0 | BeFree |
Arthropathy | 0.000271442 | 1 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000271442 | 1 | 0 | BeFree |
Multiple Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Tropical Spastic Paraparesis | 0.000271442 | 1 | 0 | BeFree |
Paraproteinemias | 0.000271442 | 1 | 0 | BeFree |
Pituitary Diseases | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of gallbladder | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of bone | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Diabetes, Autoimmune | 0.000271442 | 1 | 0 | BeFree |
Amyloid Neuropathies, Familial | 0.000271442 | 1 | 0 | BeFree |
Embryonal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Gallbladder Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Papillary thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Neoplasm, Residual | 0.000271442 | 1 | 0 | BeFree |
Laryngeal Squamous Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Common acute lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Combined immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
Spondylarthropathies | 0.000271442 | 1 | 0 | BeFree |
Classical Hodgkin's Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Cancer Cell Growth | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Chronic ulcerative colitis | 0.000271442 | 1 | 0 | BeFree |
Neuroepithelioma, Peripheral | 0.000271442 | 1 | 0 | BeFree |
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