A2ML1 (alpha-2-macroglobulin like 1)

2014-11-01  

Identity

HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
CPAMD9,OMS,p170
FUSION GENES

Other Information

Locus ID:

NCBI: 144568
MIM: 610627
HGNC: 23336
Ensembl: ENSG00000166535

Variants:

dbSNP: 144568
ClinVar: 144568
TCGA: ENSG00000166535
COSMIC: A2ML1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166535ENST00000299698A8K2U0
ENSG00000166535ENST00000536789F5GYG7
ENSG00000166535ENST00000537475H0YH14
ENSG00000166535ENST00000539547A8K2U0
ENSG00000166535ENST00000541459H0YGG5
ENSG00000166535ENST00000545692F5GXP1

Expression (GTEx)

0
100
200
300
400
500
600
700

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
367199782023Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media.0
379548602023A2ML1 Inhibits Esophageal Squamous Cell Carcinoma Progression and Serves as a Novel Prognostic Biomarker.0
367199782023Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media.0
379548602023A2ML1 Inhibits Esophageal Squamous Cell Carcinoma Progression and Serves as a Novel Prognostic Biomarker.0
356415202022Cryo-EM structures of human A2ML1 elucidate the protease-inhibitory mechanism of the A2M family.3
356415202022Cryo-EM structures of human A2ML1 elucidate the protease-inhibitory mechanism of the A2M family.3
330825262021The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.7
330825262021The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.7
310091652019A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.13
310091652019A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.13
294029682018Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.15
294029682018Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.15
290843342017Association Between Brain Gene Expression, DNA Methylation, and Alteration of Ex Vivo Magnetic Resonance Imaging Transverse Relaxation in Late-Life Cognitive Decline.14
290843342017Association Between Brain Gene Expression, DNA Methylation, and Alteration of Ex Vivo Magnetic Resonance Imaging Transverse Relaxation in Late-Life Cognitive Decline.14
274842372016Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population.13

Citation

Dessen P

A2ML1 (alpha-2-macroglobulin like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60005/a2ml1-(alpha-2-macroglobulin-like-1)