The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Transcription factors with Perturb-seq knockdown data for SPG21. 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 = SPG21 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 SPG21, 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 |
|---|---|---|---|---|
| chr15:64,699,707–64,700,384 | 289.8 kb | Distal (>10kb) Multiome | 205 | |
| chr15:64,702,680–64,704,073 | 286.6 kb | Distal (>10kb) Multiome | 747 | |
| chr15:64,774,780–64,776,025 | 214.3 kb | Distal (>10kb) Multiome | 323 | |
| chr15:64,776,175–64,776,789 | 213.3 kb | Distal (>10kb) Multiome | 105 | |
| chr15:64,780,613–64,781,099 | 209.1 kb | Distal (>10kb) Multiome | 74 | |
| chr15:64,807,123–64,808,403 | 182.0 kb | Distal (>10kb) Multiome | 248 | |
| chr15:64,808,791–64,809,297 | 180.8 kb | Distal (>10kb) Multiome | 89 | |
| chr15:64,809,806–64,810,371 | 179.8 kb | Distal (>10kb) Multiome | 298 | |
| chr15:64,823,825–64,824,470 | 165.8 kb | Distal (>10kb) Multiome | 206 | |
| chr15:64,825,130–64,826,273 | 164.1 kb | Distal (>10kb) Multiome | 784 | |
| chr15:64,840,757–64,843,201 | 148.3 kb | Distal (>10kb) Multiome | 732 | |
| chr15:64,893,790–64,894,635 | 95.7 kb | Distal (>10kb) Multiome | 506 | |
| chr15:64,905,276–64,905,958 | 84.3 kb | Distal (>10kb) Multiome | 362 | |
| chr15:64,911,481–64,912,188 | 78.1 kb | Distal (>10kb) Multiome | 308 | |
| chr15:64,915,576–64,916,281 | 74.0 kb | Distal (>10kb) Multiome | 115 | |
| chr15:64,989,345–64,990,371 | 8 bp | At TSS Multiome | 859 | |
| chr15:65,028,915–65,029,974 | 39.6 kb | Distal (>10kb) Multiome | 703 | |
| chr15:65,049,359–65,049,794 | 59.6 kb | Distal (>10kb) Multiome | 267 | |
| chr15:65,067,081–65,068,384 | 78.2 kb | Distal (>10kb) Multiome | 131 | |
| chr15:65,101,638–65,102,425 | 112.0 kb | Distal (>10kb) Multiome | 204 | |
| chr15:65,132,889–65,133,960 | 143.8 kb | Distal (>10kb) Multiome | 775 | |
| chr15:65,184,434–65,185,938 | 195.5 kb | Distal (>10kb) Multiome | 985 | |
| chr15:65,286,029–65,287,330 | 297.0 kb | Distal (>10kb) Multiome | 919 |
Genomic view of the SPG21 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.