A2M (GeneID: 2) | Homo sapiens
Description: alpha-2-macroglobulin [Source:HGNC Symbol;Acc:HGNC:7]
Synonyms: S863-7, A2MD, FWP007, CPAMD5
Other ID(s): HGNC:7, ENSG00000175899
Protein Accession Numbers: ENST00000318602, NP_001334354, NP_000005, ENST00000539638, NP_001334353, ENST00000546069, ENST00000404455, NP_001334352, ENST00000543436
Statistics: gnomAD(155)
gnomAD Variants By Annotation

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000318602 ENST00000404455 ENST00000539638 ENST00000543436 ENST00000546069 NP_000005 NP_001334352 NP_001334353 NP_001334354


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00207 A2M Alpha-2-macroglobulin family 738-828 CL0159 E-set Mus musculus
PF01835 MG2 MG2 domain 134-227 CL0159 E-set Mus musculus
PF07677 A2M_recep A-macroglobulin receptor binding domain 1374-1464 CL0159 E-set Mus musculus
PF07678 TED_complement A-macroglobulin TED domain 948-1264 CL0059 6_Hairpin Mus musculus
PF07703 A2M_BRD Alpha-2-macroglobulin bait region domain 465-613 CL0159 E-set Mus musculus
PF17789 MG4 Macroglobulin domain MG4 356-451 CL0159 E-set Mus musculus
PF17791 MG3 Macroglobulin domain MG3 229-319 CL0159 E-set Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.564 0.724
Malignant tumor of colon Neoplasms ; Digestive System Diseases ; 0.564 0.724
Colonic Neoplasms Neoplasms ; Digestive System Diseases ; 0.564 0.724
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.564 0.724
Mental Depression Behavior and Behavior Mechanisms ; 0.564 0.724
Depressive disorder Mental Disorders ; 0.564 0.724
Hepatolenticular Degeneration Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.564 0.724
Kidney Failure, Acute Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.564 0.724
Liver Cirrhosis Digestive System Diseases ; 0.564 0.724
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.564 0.724
Lung diseases Respiratory Tract Diseases ; 0.564 0.724
Lung Neoplasms Neoplasms ; Respiratory Tract Diseases ; 0.564 0.724
Nephrotic Syndrome Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.564 0.724
Hepatocellular Adenoma Neoplasms ; Digestive System Diseases ; 0.564 0.724
Fibrosis, Liver Digestive System Diseases ; 0.564 0.724
Malignant neoplasm of lung Neoplasms ; Respiratory Tract Diseases ; 0.564 0.724
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.564 0.724
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.564 0.724
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.564 0.724
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.564 0.724
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.564 0.724
Hepatic Form of Wilson Disease Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.564 0.724
Acute Kidney Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.564 0.724
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.564 0.724
Acute kidney injury Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.564 0.724
alpha-2-Macroglobulin Deficiency Respiratory Tract Diseases ; 0.564 0.724
NO RESULT FOUND
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