SRP72 Chromosome 4
Signal recognition particle 72
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What This Gene Does
This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Signal recognition particle"
Locus Type
gene with protein product
Location
4q12
Ensembl
ENSG00000174780
Associated Conditions (3)
Autosomal dominant aplasia and myelodysplasia
Familial cancer of breast
SRP72-related disorder
Key Variants
RS1037303884
Conflicting classifications of pathogenicity
Health Risk
RS1259551381
Conflicting classifications of pathogenicity
Health Risk
RS139502866
Conflicting classifications of pathogenicity
Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia
Health Risk
RS145817936
Conflicting classifications of pathogenicity
Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia
Health Risk
RS186908289
Conflicting classifications of pathogenicity
Autosomal dominant aplasia and myelodysplasia, Familial cancer of breast, Autosomal dominant aplasia and myelodysplasia
Health Risk
RS201095666
Conflicting classifications of pathogenicity
SRP72-related disorder, SRP72-related disorder
Health Risk
RS201940585
Conflicting classifications of pathogenicity
Autosomal dominant aplasia and myelodysplasia, SRP72-related disorder, Autosomal dominant aplasia and myelodysplasia
Health Risk
RS2110122856
Conflicting classifications of pathogenicity
Health Risk
RS377629543
Conflicting classifications of pathogenicity
Health Risk
RS748234107
Conflicting classifications of pathogenicity
Health Risk
RS752594366
Conflicting classifications of pathogenicity
Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia
Health Risk
RS760960779
Conflicting classifications of pathogenicity
Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1037303884 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1259551381 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139502866 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia |
| RS145817936 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia |
| RS186908289 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant aplasia and myelodysplasia, Familial cancer of breast, Autosomal dominant aplasia and myelodysplasia |
| RS201095666 | Health Risk | Conflicting classifications of pathogenicity | SRP72-related disorder, SRP72-related disorder |
| RS201940585 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant aplasia and myelodysplasia, SRP72-related disorder, Autosomal dominant aplasia and myelodysplasia |
| RS2110122856 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377629543 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748234107 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752594366 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia |
| RS760960779 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia |
| RS763655714 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant aplasia and myelodysplasia, SRP72-related disorder, Autosomal dominant aplasia and myelodysplasia |
| RS767910888 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773901373 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779131373 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779777836 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781230154 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia |