Property Summary

NCBI Gene PubMed Count 16
PubMed Score 7.14
PubTator Score 9.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytic glioma 1.200 0.018
posterior fossa group B ependymoma 2.100 0.000
non-small cell lung cancer 1.521 0.000
cystic fibrosis 1.400 0.011
psoriasis 2.500 0.000
spina bifida -2.531 0.038

Gene RIF (6)

PMID Text
26121085 Studies support a role for alpha-2-macroglobulin-like 1 protein (A2ML1) in the pathophysiology of otitis media.
24939586 our results provide evidence that mutations in A2ML1 are a cause of Noonan-like syndrome, with a variable phenotype ranging from severe to very mild.
20805888 a new class of target antigens in a paraneoplastic autoimmune multiorgan syndrome
19204726 Observational study of gene-disease association. (HuGE Navigator)
18648652 alpha2ML1 binding to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis
16298998 alpha2ML1 is the first alpha2macroglobulin family member detected in the epidermis, where it may play an important role during desquamation by inhibiting extracellular proteases.

AA Sequence

MWAQLLLGMLALSPAIAEELPNYLVTLPARLNFPSVQKVCLDLSPGYSDVKFTVTLETKDKTQKLLEYSG      1 - 70
LKKRHLHCISFLVPPPAGGTEEVATIRVSGVGNNISFEEKKKVLIQRQGNGTFVQTDKPLYTPGQQVYFR     71 - 140
IVTMDSNFVPVNDKYSMVELQDPNSNRIAQWLEVVPEQGIVDLSFQLAPEAMLGTYTVAVAEGKTFGTFS    141 - 210
VEEYVLPKFKVEVVEPKELSTVQESFLVKICCRYTYGKPMLGAVQVSVCQKANTYWYREVEREQLPDKCR    211 - 280
NLSGQTDKTGCFSAPVDMATFDLIGYAYSHQINIVATVVEEGTGVEANATQNIYISPQMGSMTFEDTSNF    281 - 350
YHPNFPFSGKIRVRGHDDSFLKNHLVFLVIYGTNGTFNQTLVTDNNGLAPFTLETSGWNGTDVSLEGKFQ    351 - 420
MEDLVYNPEQVPRYYQNAYLHLRPFYSTTRSFLGIHRLNGPLKCGQPQEVLVDYYIDPADASPDQEISFS    421 - 490
YYLIGKGSLVMEGQKHLNSKKKGLKASFSLSLTFTSRLAPDPSLVIYAIFPSGGVVADKIQFSVEMCFDN    491 - 560
QVSLGFSPSQQLPGAEVELQLQAAPGSLCALRAVDESVLLLRPDRELSNRSVYGMFPFWYGHYPYQVAEY    561 - 630
DQCPVSGPWDFPQPLIDPMPQGHSSQRSIIWRPSFSEGTDLFSFFRDVGLKILSNAKIKKPVDCSHRSPE    631 - 700
YSTAMGAGGGHPEAFESSTPLHQAEDSQVRQYFPETWLWDLFPIGNSGKEAVHVTVPDAITEWKAMSFCT    701 - 770
SQSRGFGLSPTVGLTAFKPFFVDLTLPYSVVRGESFRLTATIFNYLKDCIRVQTDLAKSHEYQLESWADS    771 - 840
QTSSCLCADDAKTHHWNITAVKLGHINFTISTKILDSNEPCGGQKGFVPQKGRSDTLIKPVLVKPEGVLV    841 - 910
EKTHSSLLCPKGKVASESVSLELPVDIVPDSTKAYVTVLGDIMGTALQNLDGLVQMPSGCGEQNMVLFAP    911 - 980
IIYVLQYLEKAGLLTEEIRSRAVGFLEIGYQKELMYKHSNGSYSAFGERDGNGNTWLTAFVTKCFGQAQK    981 - 1050
FIFIDPKNIQDALKWMAGNQLPSGCYANVGNLLHTAMKGGVDDEVSLTAYVTAALLEMGKDVDDPMVSQG   1051 - 1120
LRCLKNSATSTTNLYTQALLAYIFSLAGEMDIRNILLKQLDQQAIISGESIYWSQKPTPSSNASPWSEPA   1121 - 1190
AVDVELTAYALLAQLTKPSLTQKEIAKATSIVAWLAKQHNAYGGFSSTQDTVVALQALAKYATTAYMPSE   1191 - 1260
EINLVVKSTENFQRTFNIQSVNRLVFQQDTLPNVPGMYTLEASGQGCVYVQTVLRYNILPPTNMKTFSLS   1261 - 1330
VEIGKARCEQPTSPRSLTLTIHTSYVGSRSSSNMAIVEVKMLSGFSPMEGTNQLLLQQPLVKKVEFGTDT   1331 - 1400
LNIYLDELIKNTQTYTFTISQSVLVTNLKPATIKVYDYYLPDEQATIQYSDPCE                   1401 - 1454
//

Text Mined References (19)

PMID Year Title
26121085 2015 Rare A2ML1 variants confer susceptibility to otitis media.
25862627 2015 External ear anomalies and hearing impairment in Noonan Syndrome.
24939586 2015 Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23407400 2013 Anti-?-2-macroglobulin-like-1 autoantibodies are detected frequently and may be pathogenic in paraneoplastic pemphigus.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
20805888 2010 The protease inhibitor alpha-2-macroglobulin-like-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human.
19204726 2009 Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
18648652 2008 Binding of alpha2ML1 to the low density lipoprotein receptor-related protein 1 (LRP1) reveals a new role for LRP1 in the human epidermis.
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