This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]
Transcription factors with Perturb-seq knockdown data for MCFD2. 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 = MCFD2 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 MCFD2, 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 |
|---|---|---|---|---|
| chr2:46,616,071–46,617,512 | 298.7 kb | Distal (>10kb) Multiome | 955 | |
| chr2:46,698,279–46,700,093 | 216.8 kb | Distal (>10kb) Multiome | 974 | |
| chr2:46,704,551–46,705,027 | 211.0 kb | Distal (>10kb) Multiome | 109 | |
| chr2:46,915,163–46,916,556 | 109 bp | At TSS Multiome | 931 | |
| chr2:46,940,391–46,942,183 | 25.5 kb | Distal (>10kb) Multiome | 931 | |
| chr2:46,986,672–46,987,498 | 71.4 kb | Distal (>10kb) Multiome | 630 | |
| chr2:47,019,690–47,020,313 | 104.2 kb | Distal (>10kb) Multiome | 52 | |
| chr2:47,174,954–47,177,223 | 260.9 kb | Distal (>10kb) Multiome | 1239 |
Genomic view of the MCFD2 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.