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A2ML1 (alpha-2-macroglobulin like 1)

Identity

Alias (NCBI)CPAMD9
OMS
p170
HGNC (Hugo) A2ML1
HGNC Alias symbFLJ25179
HGNC Previous nameCPAMD9
HGNC Previous nameC3 and PZP-like, alpha-2-macroglobulin domain containing 9
LocusID (NCBI) 144568
Atlas_Id 60005
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 8822472 and ends at 8876781 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)
A2ML1 (12p13.31) / PHC1 (12p13.31)A2ML1 (12p13.31) / SNX29 (16p13.13)CD163 (12p13.31) / A2ML1 (12p13.31)

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

 


External links

Nomenclature
HGNC (Hugo)A2ML1   23336
Cards
Entrez_Gene (NCBI)A2ML1  144568  alpha-2-macroglobulin like 1
AliasesCPAMD9; OMS; p170
GeneCards (Weizmann)A2ML1
Ensembl hg19 (Hinxton)ENSG00000166535 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166535 [Gene_View]  ENSG00000166535 [Sequence]  chr12:8822472-8876781 [Contig_View]  A2ML1 [Vega]
ICGC DataPortalENSG00000166535
TCGA cBioPortalA2ML1
AceView (NCBI)A2ML1
Genatlas (Paris)A2ML1
WikiGenes144568
SOURCE (Princeton)A2ML1
Genetics Home Reference (NIH)A2ML1
Genomic and cartography
GoldenPath hg38 (UCSC)A2ML1  -     chr12:8822472-8876781 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)A2ML1  -     12p13.31   [Description]    (hg19-Feb_2009)
GoldenPathA2ML1 - 12p13.31 [CytoView hg19]  A2ML1 - 12p13.31 [CytoView hg38]
ImmunoBaseENSG00000166535
genome Data Viewer NCBIA2ML1 [Mapview hg19]  
OMIM166760   610627   
Gene and transcription
Genbank (Entrez)AK057908 AK096448 AK122624 AK123591 AK123592
RefSeq transcript (Entrez)NM_001282424 NM_144670
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)A2ML1
Alternative Splicing GalleryENSG00000166535
Gene ExpressionA2ML1 [ NCBI-GEO ]   A2ML1 [ EBI - ARRAY_EXPRESS ]   A2ML1 [ SEEK ]   A2ML1 [ MEM ]
Gene Expression Viewer (FireBrowse)A2ML1 [ Firebrowse - Broad ]
GenevisibleExpression of A2ML1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144568
GTEX Portal (Tissue expression)A2ML1
Human Protein AtlasENSG00000166535-A2ML1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA8K2U0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA8K2U0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA8K2U0
Splice isoforms : SwissVarA8K2U0
PhosPhoSitePlusA8K2U0
Domaine pattern : Prosite (Expaxy)ALPHA_2_MACROGLOBULIN (PS00477)   
Domains : Interpro (EBI)A-macroglobulin_rcpt-bd    A-macroglobulin_rcpt-bd_sf    A2M_N_BRD    A2M_TED    Alpha-macroglobulin_TED    Ig-like_fold    Ig_E-set    Macroglobln_a2    MacrogloblnA2_CS    MG2    MG3    MG4    Terpenoid_cyclase/PrenylTrfase   
Domain families : Pfam (Sanger)A2M (PF00207)    A2M_BRD (PF07703)    A2M_recep (PF07677)    MG2 (PF01835)    MG3 (PF17791)    MG4 (PF17789)    TED_complement (PF07678)   
Domain families : Pfam (NCBI)pfam00207    pfam07703    pfam07677    pfam01835    pfam17791    pfam17789    pfam07678   
Domain families : Smart (EMBL)A2M (SM01360)  A2M_N_2 (SM01359)  A2M_recep (SM01361)  
Conserved Domain (NCBI)A2ML1
DMDM Disease mutations144568
Blocks (Seattle)A2ML1
SuperfamilyA8K2U0
Human Protein Atlas [tissue]ENSG00000166535-A2ML1 [tissue]
Peptide AtlasA8K2U0
HPRD08684
IPIIPI00419215   IPI01010670   IPI01010684   IPI01014551   IPI01015019   IPI01015381   
Protein Interaction databases
DIP (DOE-UCLA)A8K2U0
IntAct (EBI)A8K2U0
FunCoupENSG00000166535
BioGRIDA2ML1
STRING (EMBL)A2ML1
ZODIACA2ML1
Ontologies - Pathways
QuickGOA8K2U0
Ontology : AmiGOprotease binding  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular space  negative regulation of endopeptidase activity  peptidase inhibitor activity  regulation of endopeptidase activity  extracellular exosome  
Ontology : EGO-EBIprotease binding  endopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  extracellular space  negative regulation of endopeptidase activity  peptidase inhibitor activity  regulation of endopeptidase activity  extracellular exosome  
NDEx NetworkA2ML1
Atlas of Cancer Signalling NetworkA2ML1
Wikipedia pathwaysA2ML1
Orthology - Evolution
OrthoDB144568
GeneTree (enSembl)ENSG00000166535
Phylogenetic Trees/Animal Genes : TreeFamA2ML1
HOGENOMA8K2U0
Homologs : HomoloGeneA2ML1
Homology/Alignments : Family Browser (UCSC)A2ML1
Gene fusions - Rearrangements
Fusion : QuiverA2ML1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerA2ML1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)A2ML1
dbVarA2ML1
ClinVarA2ML1
1000_GenomesA2ML1 
Exome Variant ServerA2ML1
GNOMAD BrowserENSG00000166535
Varsome BrowserA2ML1
Genetic variants : HAPMAP144568
Genomic Variants (DGV)A2ML1 [DGVbeta]
DECIPHERA2ML1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisA2ML1 
Mutations
ICGC Data PortalA2ML1 
TCGA Data PortalA2ML1 
Broad Tumor PortalA2ML1
OASIS PortalA2ML1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICA2ML1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DA2ML1
Mutations and Diseases : HGMDA2ML1
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 A2ML1
DgiDB (Drug Gene Interaction Database)A2ML1
DoCM (Curated mutations)A2ML1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)A2ML1 (select a term)
intoGenA2ML1
Cancer3DA2ML1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM166760    610627   
Orphanet206   
DisGeNETA2ML1
MedgenA2ML1
Genetic Testing Registry A2ML1
NextProtA8K2U0 [Medical]
TSGene144568
GENETestsA2ML1
Target ValidationA2ML1
Huge Navigator A2ML1 [HugePedia]
snp3D : Map Gene to Disease144568
BioCentury BCIQA2ML1
ClinGenA2ML1
Clinical trials, drugs, therapy
Protein Interactions : CTD144568
Pharm GKB GenePA142670460
Clinical trialA2ML1
Miscellaneous
canSAR (ICR)A2ML1 (select the gene name)
HarmonizomeA2ML1
DataMed IndexA2ML1
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineA2ML1
EVEXA2ML1
GoPubMedA2ML1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Aug 22 19:04:52 CEST 2020

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