SRPX
sushi repeat containing protein X-linked
Summary
Predicted to be an extracellular matrix structural constituent. Predicted to be involved in phagolysosome assembly. Predicted to act upstream of or within several processes, including negative regulation of cell proliferation involved in contact inhibition; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; and response to endoplasmic reticulum stress. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141892408 | X:38,009,102 | C/A | — | likely benign |
| rs996408217 | X:38,009,119 | A/G | — | uncertain significance |
| rs35318931 | X:38,009,121 | G/A | missense variant | — |
| rs145370296 | X:38,013,726 | C/T | — | benign |
| rs149411980 | X:38,013,743 | T/G | — | uncertain significance |
| rs773402989 | X:38,013,747 | C/G | — | uncertain significance |
| rs764257772 | X:38,013,760 | C/A | — | uncertain significance |
| rs1938093953 | X:38,013,776 | G/A | — | uncertain significance |
| rs1938094599 | X:38,013,797 | C/A | — | uncertain significance |
| rs144518030 | X:38,013,811 | C/A | — | uncertain significance |
| rs778546396 | X:38,013,815 | G/A | — | uncertain significance |
| rs374467231 | X:38,013,836 | G/T | — | uncertain significance |
| rs774622598 | X:38,016,206 | A/G | — | likely benign |
| rs112900563 | X:38,017,972 | A/G | intron variant | — |
| rs750284952 | X:38,019,287 | G/A | — | conflicting classifications of pathogenicity |
| rs140816750 | X:38,019,329 | C/A | — | uncertain significance |
| rs1190585618 | X:38,019,391 | G/A | — | likely benign |
| rs377733865 | X:38,019,394 | G/T | — | uncertain significance |
| rs2519656749 | X:38,019,404 | T/A | — | uncertain significance |
| rs1245866412 | X:38,020,188 | C/A | — | uncertain significance |
| rs201000269 | X:38,020,192 | C/G | — | uncertain significance |
| rs766812159 | X:38,020,200 | C/G | — | uncertain significance |
| rs752895004 | X:38,020,225 | C/G | — | uncertain significance |
| rs756386867 | X:38,020,230 | C/G | — | likely pathogenic |
| rs374069621 | X:38,020,250 | G/C | — | uncertain significance |
| rs202189372 | X:38,020,285 | G/C | — | uncertain significance |
| rs1123773 | X:38,020,288 | G/A | — | benign |
| rs747875312 | X:38,024,032 | T/A | — | uncertain significance |
| rs749663913 | X:38,024,139 | G/A | — | uncertain significance |
| rs375318852 | X:38,031,152 | G/A | — | uncertain significance |
| rs777506032 | X:38,031,185 | C/T | — | uncertain significance |
| rs201634519 | X:38,031,191 | G/A | — | uncertain significance |
| rs139698955 | X:38,031,235 | C/T | — | uncertain significance |
| rs753463967 | X:38,031,293 | G/A | — | uncertain significance |
| rs759401506 | X:38,033,422 | T/C | — | uncertain significance |
| rs149885497 | X:38,033,425 | C/A | — | uncertain significance |
| rs1938528568 | X:38,033,457 | A/G | — | uncertain significance |
| rs369046467 | X:38,033,526 | G/T | — | conflicting classifications of pathogenicity |
| rs188197194 | X:38,037,600 | A/G | — | benign |
| rs201383079 | X:38,079,996 | A/C | — | uncertain significance |
| rs770581532 | X:38,080,002 | G/C | — | uncertain significance |
| rs1485230353 | X:38,080,037 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.