Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

A2M (alpha-2-macroglobulin)

Identity

Alias_symbol (synonym)FWP007
S863-7
CPAMD5
Other aliasA2MD
HGNC (Hugo) A2M
LocusID (NCBI) 2
Atlas_Id 42923
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 9067708 and ends at 9116229 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
A2M (12p13.31) / A2M (12p13.31)A2M (12p13.31) / ABR (17p13.3)A2M (12p13.31) / AFMID (17q25.3)
A2M (12p13.31) / ALK (2p23.2)A2M (12p13.31) / ARFGEF2 (20q13.13)A2M (12p13.31) / DNAJB7 (22q13.2)
A2M (12p13.31) / DRC1 (2p23.3)A2M (12p13.31) / EPN2 (17p11.2)A2M (12p13.31) / FAR1 (11p15.2)
A2M (12p13.31) / KIFC3 (16q21)A2M (12p13.31) / NSUN2 (5p15.31)A2M (12p13.31) / PLEKHA5 (12p12.3)
A2M (12p13.31) / PZP (12p13.31)A2M (12p13.31) / RPS12 (6q23.2)A2M (12p13.31) / WIPF2 (17q21.1)
ALG8 (11q14.1) / A2M (12p13.31)LOC100128682 () / A2M (12p13.31)POLR3C (1q21.1) / A2M (12p13.31)
TUBB4B (9q34.3) / A2M (12p13.31)A2M 12p13.31 / ARFGEF2 20q13.13A2M 12p13.31 / FAR1 11p15.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(2;12)(p23;p13) A2M/ALK
t(2;12)(p23;p13) A2M/ALK
t(11;12)(p15;p13) A2M/FAR1
t(12;20)(p13;q13) A2M/ARFGEF2


External links

Nomenclature
HGNC (Hugo)A2M   7
Cards
Entrez_Gene (NCBI)A2M  2  alpha-2-macroglobulin
AliasesA2MD; CPAMD5; FWP007; S863-7
GeneCards (Weizmann)A2M
Ensembl hg19 (Hinxton)ENSG00000175899 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175899 [Gene_View]  ENSG00000175899 [Sequence]  chr12:9067708-9116229 [Contig_View]  A2M [Vega]
ICGC DataPortalENSG00000175899
TCGA cBioPortalA2M
AceView (NCBI)A2M
Genatlas (Paris)A2M
WikiGenes2
SOURCE (Princeton)A2M
Genetics Home Reference (NIH)A2M
Genomic and cartography
GoldenPath hg38 (UCSC)A2M  -     chr12:9067708-9116229 -  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)A2M  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblA2M - 12p13.31 [CytoView hg19]  A2M - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIA2M [Mapview hg19]  A2M [Mapview hg38]
OMIM103950   104300   614036   
Gene and transcription
Genbank (Entrez)AB209614 AK307832 AK312482 AY591530 BC026246
RefSeq transcript (Entrez)NM_000014 NM_001347423 NM_001347424 NM_001347425
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)A2M
Cluster EST : UnigeneHs.212838 [ NCBI ]
CGAP (NCI)Hs.212838
Alternative Splicing GalleryENSG00000175899
Gene ExpressionA2M [ NCBI-GEO ]   A2M [ EBI - ARRAY_EXPRESS ]   A2M [ SEEK ]   A2M [ MEM ]
Gene Expression Viewer (FireBrowse)A2M [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2
GTEX Portal (Tissue expression)A2M
Human Protein AtlasENSG00000175899-A2M [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01023   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP01023  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01023
Splice isoforms : SwissVarP01023
PhosPhoSitePlusP01023
Domaine pattern : Prosite (Expaxy)ALPHA_2_MACROGLOBULIN (PS00477)   
Domains : Interpro (EBI)A-macroglobulin_rcpt-bd    A2M_comp    A2M_N    A2M_N_2    Ig_E-set    Macroglobln_a2    MacrogloblnA2_CS    MacrogloblnA2_thiol-ester-bond    Terpenoid_cyclase/PrenylTrfase    TonB_box_CS   
Domain families : Pfam (Sanger)A2M (PF00207)    A2M_comp (PF07678)    A2M_N (PF01835)    A2M_N_2 (PF07703)    A2M_recep (PF07677)    Thiol-ester_cl (PF10569)   
Domain families : Pfam (NCBI)pfam00207    pfam07678    pfam01835    pfam07703    pfam07677    pfam10569   
Domain families : Smart (EMBL)A2M (SM01360)  A2M_N_2 (SM01359)  A2M_recep (SM01361)  
Conserved Domain (NCBI)A2M
DMDM Disease mutations2
Blocks (Seattle)A2M
PDB (SRS)1BV8    2P9R    4ACQ   
PDB (PDBSum)1BV8    2P9R    4ACQ   
PDB (IMB)1BV8    2P9R    4ACQ   
PDB (RSDB)1BV8    2P9R    4ACQ   
Structural Biology KnowledgeBase1BV8    2P9R    4ACQ   
SCOP (Structural Classification of Proteins)1BV8    2P9R    4ACQ   
CATH (Classification of proteins structures)1BV8    2P9R    4ACQ   
SuperfamilyP01023
Human Protein Atlas [tissue]ENSG00000175899-A2M [tissue]
Peptide AtlasP01023
HPRD00072
IPIIPI00478003   IPI01010737   IPI00878729   IPI01014689   IPI01015090   IPI01013706   
Protein Interaction databases
DIP (DOE-UCLA)P01023
IntAct (EBI)P01023
FunCoupENSG00000175899
BioGRIDA2M
STRING (EMBL)A2M
ZODIACA2M
Ontologies - Pathways
QuickGOP01023
Ontology : AmiGOnegative regulation of complement activation, lectin pathway  protease binding  platelet degranulation  serine-type endopeptidase inhibitor activity  GTPase activator activity  receptor binding  protein binding  extracellular region  extracellular region  cytosol  blood coagulation, intrinsic pathway  negative regulation of endopeptidase activity  growth factor binding  enzyme binding  interleukin-8 binding  interleukin-1 binding  extracellular matrix disassembly  platelet alpha granule lumen  tumor necrosis factor binding  positive regulation of GTPase activity  calcium-dependent protein binding  stem cell differentiation  regulation of small GTPase mediated signal transduction  extracellular exosome  blood microparticle  
Ontology : EGO-EBInegative regulation of complement activation, lectin pathway  protease binding  platelet degranulation  serine-type endopeptidase inhibitor activity  GTPase activator activity  receptor binding  protein binding  extracellular region  extracellular region  cytosol  blood coagulation, intrinsic pathway  negative regulation of endopeptidase activity  growth factor binding  enzyme binding  interleukin-8 binding  interleukin-1 binding  extracellular matrix disassembly  platelet alpha granule lumen  tumor necrosis factor binding  positive regulation of GTPase activity  calcium-dependent protein binding  stem cell differentiation  regulation of small GTPase mediated signal transduction  extracellular exosome  blood microparticle  
Pathways : KEGGAlzheimer's disease    Complement and coagulation cascades   
NDEx NetworkA2M
Atlas of Cancer Signalling NetworkA2M
Wikipedia pathwaysA2M
Orthology - Evolution
OrthoDB2
GeneTree (enSembl)ENSG00000175899
Phylogenetic Trees/Animal Genes : TreeFamA2M
HOVERGENP01023
HOGENOMP01023
Homologs : HomoloGeneA2M
Homology/Alignments : Family Browser (UCSC)A2M
Gene fusions - Rearrangements
Fusion : MitelmanA2M/ALK [12p13.31/2p23.2]  
Fusion : MitelmanA2M/ARFGEF2 [12p13.31/20q13.13]  [t(12;20)(p13;q13)]  
Fusion : MitelmanA2M/FAR1 [12p13.31/11p15.2]  [t(11;12)(p15;p13)]  
Fusion PortalA2M 12p13.31 ARFGEF2 20q13.13 LUAD
Fusion PortalA2M 12p13.31 FAR1 11p15.2 KIRC
Fusion Cancer (Beijing)A2M [12p13.31]  -  ABR [17p13.3]  [FUSC002083]
Fusion Cancer (Beijing)A2M [12p13.31]  -  C2orf39 [FUSC002085]
Fusion Cancer (Beijing)A2M [12p13.31]  -  DNAJB7 [22q13.2]  [FUSC002091]
Fusion Cancer (Beijing)A2M [12p13.31]  -  KIFC3 [16q21]  [FUSC002049]
Fusion Cancer (Beijing)A2M [12p13.31]  -  NSUN2 [5p15.31]  [FUSC002099]
Fusion Cancer (Beijing)A2M [12p13.31]  -  PLEKHA5 [12p12.3]  [FUSC002100]
Fusion Cancer (Beijing)A2M [12p13.31]  -  PZP [12p13.31]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]  [FUSC001904]
Fusion Cancer (Beijing)A2M [12p13.31]  -  RPS12 [6q23.2]  [FUSC002102]
Fusion Cancer (Beijing)A2M [12p13.31]  -  WIPF2 [17q21.1]  [FUSC002802]
Fusion Cancer (Beijing)ALG8 [11q14.1]  -  A2M [12p13.31]  [FUSC002118]
Fusion Cancer (Beijing)POLR3C [1q21.1]  -  A2M [12p13.31]  [FUSC002183]
Fusion : QuiverA2M
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerA2M [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)A2M
dbVarA2M
ClinVarA2M
1000_GenomesA2M 
Exome Variant ServerA2M
ExAC (Exome Aggregation Consortium)ENSG00000175899
GNOMAD BrowserENSG00000175899
Genetic variants : HAPMAP2
Genomic Variants (DGV)A2M [DGVbeta]
DECIPHERA2M [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisA2M 
Mutations
ICGC Data PortalA2M 
TCGA Data PortalA2M 
Broad Tumor PortalA2M
OASIS PortalA2M [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICA2M  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDA2M
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch A2M
DgiDB (Drug Gene Interaction Database)A2M
DoCM (Curated mutations)A2M (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)A2M (select a term)
intoGenA2M
Cancer3DA2M(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM103950    104300    614036   
Orphanet
DisGeNETA2M
MedgenA2M
Genetic Testing Registry A2M
NextProtP01023 [Medical]
TSGene2
GENETestsA2M
Target ValidationA2M
Huge Navigator A2M [HugePedia]
snp3D : Map Gene to Disease2
BioCentury BCIQA2M
ClinGenA2M
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2
Chemical/Pharm GKB GenePA24357
Clinical trialA2M
Miscellaneous
canSAR (ICR)A2M (select the gene name)
Probes
Litterature
PubMed244 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineA2M
EVEXA2M
GoPubMedA2M
iHOPA2M
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:12:20 CEST 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.