Basic information
- Full name
- alpha-2-macroglobulin like 1
- Ensembl
- ENSG00000166535.20
- Summary
- This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Protein product
- ENST00000299698.12 Primary ENSP00000299698.7 (5 phosphosites)
- ENST00000539547.5
Phosphosites on the primary protein product
Tumor and normal comparison
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Data type | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
RNA | 9.4e-5 | - | 0.33 | - | - | -1.9e-17 | 1.4e-28 | 0.36 | - | 7.3e-5 | - |
protein | -0.86 | - | - | - | - | -1.6e-18 | 5.7e-10 | -0.012 | -2.2e-3 | 9.3e-5 | 1.1e-3 |
mRNA expression at gene level
Protein expression
Phenotype and mutation association
Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types
Associations of the protein abundance of A2ML1 with phenotypes and mutations
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
HALLMARK_KRAS_SIGNALING_DN | 1.5e-10 | 1.4e-3 | - | - | - | 1.8e-3 | 1.8e-7 | -0.94 | 0.33 | 0.04 | 0.013 | |
HALLMARK_P53_PATHWAY | 8e-10 | 0.18 | - | - | - | 4.7e-6 | 3.7e-4 | 0.76 | 0.21 | 4.4e-3 | 0.018 | |
KINASE-PSP_P38A/MAPK14 | 2e-9 | - | - | - | - | 3e-7 | 6.1e-4 | - | - | - | 0.067 | |
HALLMARK_APICAL_SURFACE | 2.6e-8 | -0.12 | - | - | - | 7.5e-4 | 2.6e-5 | 0.24 | -0.78 | 1.1e-5 | 6.6e-4 | |
PROGENy: PI3K | 4.2e-7 | 0.01 | - | - | - | 6.4e-5 | 3.2e-4 | 0.93 | 0.35 | 0.1 | 0.56 | |
PROGENy: p53 | 6.9e-6 | -0.021 | - | - | - | 1.6e-9 | 2.1e-7 | 0.51 | -0.043 | 0.21 | 2.1e-3 | |
PERT-P100-DIA_SEMAGACESTAT | 1.1e-5 | - | - | - | - | - | 1.1e-5 | - | - | - | - | |
HALLMARK_CHOLESTEROL_HOMEOSTASIS | 1.2e-5 | 0.016 | - | - | - | 4.7e-4 | 0.026 | 0.21 | 0.044 | -0.58 | 0.46 | |
PROGENy: Hypoxia | 5.4e-5 | 7.4e-4 | - | - | - | 0.18 | 8.8e-3 | 0.86 | 0.47 | 0.011 | -0.9 | |
PATH-NP_EGFR1_PATHWAY | 1.1e-4 | 1.6e-3 | - | - | - | 1.8e-4 | 0.053 | -0.52 | - | -0.76 | 0.11 |
Cis-association
Associations between omics data of A2ML1
Trans-association
Associations of the protein abundance of A2ML1 and the protein abundance of other genes
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
No matching records found |
Gene set enrichment analysis
Submit genes and the common logarithm of the p-values of their association with to WebGestalt.