SSR4 Chromosome X
Signal sequence receptor subunit 4
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What This Gene Does
This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Translocon associated protein complex subunits
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000180879
Associated Conditions (6)
SSR4-congenital disorder of glycosylation
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Nonpapillary renal cell carcinoma
Key Variants
RS1057518735
Conflicting classifications of pathogenicity
SSR4-congenital disorder of glycosylation, Thyroid cancer, nonmedullary
Health Risk
RS148637748
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2520526295
Likely pathogenic
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
Health Risk
RS794729223
Likely pathogenic
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
Health Risk
RS880003306
Likely pathogenic
SSR4-congenital disorder of glycosylation, Nonpapillary renal cell carcinoma, SSR4-congenital disorder of glycosylation
Health Risk
RS1057518736
Pathogenic
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
Health Risk
RS1557072752
Pathogenic
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
Health Risk
RS2092142348
Pathogenic
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
Health Risk
RS2092148846
Pathogenic
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
Health Risk
RS2148450759
Pathogenic
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
Health Risk
RS2148450972
Pathogenic
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
Health Risk
RS2520529293
Pathogenic
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518735 | Health Risk | Conflicting classifications of pathogenicity | SSR4-congenital disorder of glycosylation, Thyroid cancer, nonmedullary |
| RS148637748 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2520526295 | Health Risk | Likely pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS794729223 | Health Risk | Likely pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS880003306 | Health Risk | Likely pathogenic | SSR4-congenital disorder of glycosylation, Nonpapillary renal cell carcinoma, SSR4-congenital disorder of glycosylation |
| RS1057518736 | Health Risk | Pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS1557072752 | Health Risk | Pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS2092142348 | Health Risk | Pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS2092148846 | Health Risk | Pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS2148450759 | Health Risk | Pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS2148450972 | Health Risk | Pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS2520529293 | Health Risk | Pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS606231298 | Health Risk | Pathogenic | SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS868996072 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |