Gene Name	A2ML1
Gene ID	144568
Gene Full Name	alpha-2-macroglobulin like 1
Gene Alias	CPAMD9|OMS|p170
Transcripts	ENSG00000166535
Virus	HTLV1
Gene Type	protein-coding
HPA Location Info	Secreted in other tissues;
Membrane Info	Disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Uniport_ID	A8K2U0
HGNC ID	HGNC:23336
OMIM ID	610627
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]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
6008310	chr12	42	3	1	46	View

Data ID	Experiment type	Sample number	Platform
C   GSE94732	Chip-seq	24	Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens)
GSE168557	Expression array	6	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version)
GSE52244	Expression array	15	[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version]
GSE189602	Methylation profiling (Array)	4	Infinium MethylationEPIC
GSE136189	Methylation profiling (Array)	40	Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE94732 - A2ML1 peak across samples

Peak Plot