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]
Transcription factors with Perturb-seq knockdown data for A2ML1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = A2ML1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of A2ML1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr12:8,589,422–8,590,041 | 233.7 kb | Distal (>10kb) Multiome HiCAR | 36 | |
| chr12:8,635,736–8,636,521 | 187.4 kb | Distal (>10kb) Multiome | 57 | |
| chr12:8,639,004–8,640,552 | 183.5 kb | Distal (>10kb) Multiome | 163 | |
| chr12:8,697,096–8,698,824 | 125.6 kb | Distal (>10kb) Multiome HiCAR | 624 | |
| chr12:8,804,682–8,805,722 | 18.4 kb | Distal (>10kb) Multiome | 77 | |
| chr12:8,809,981–8,810,589 | 13.1 kb | Distal (>10kb) Multiome | 18 | |
| chr12:8,816,467–8,816,736 | 5.9 kb | Proximal (<10kb) | 78 | |
| chr12:8,819,132–8,819,867 | 4.1 kb | Proximal (<10kb) Multiome | 194 | |
| chr12:8,823,561–8,824,224 | 940 bp | At TSS | 162 | |
| chr12:8,911,603–8,912,126 | 88.4 kb | Distal (>10kb) Multiome | 92 | |
| chr12:8,913,876–8,915,422 | 91.1 kb | Distal (>10kb) Multiome | 537 | |
| chr12:8,948,926–8,950,657 | 126.4 kb | Distal (>10kb) Multiome | 936 | |
| chr12:9,030,629–9,031,494 | 207.5 kb | Distal (>10kb) Multiome | 38 | |
| chr12:9,064,208–9,065,913 | 241.6 kb | Distal (>10kb) Multiome | 804 |
Genomic view of the A2ML1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.