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
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
162989982006A novel protease inhibitor of the alpha2-macroglobulin family expressed in the human epidermis.21
249395862015Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.19
208058882010The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human.17
261210852015Rare A2ML1 variants confer susceptibility to otitis media.16
277990622016Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene.10
274842372016Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population.8
290843342017Association Between Brain Gene Expression, DNA Methylation, and Alteration of Ex Vivo Magnetic Resonance Imaging Transverse Relaxation in Late-Life Cognitive Decline.5
186486522008Binding of alpha2ML1 to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis.4
310091652019A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.3

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