SEC63 Chromosome 6
SEC63 protein translocation regulator
Upload your DNA to see your personal genotypes for variants in SEC63.
What This Gene Does
The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DNAJ (HSP40) heat shock proteins
Locus Type
gene with protein product
Location
6q21
Ensembl
ENSG00000025796
Associated Conditions (9)
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
SEC63-related disorder
Uterine carcinosarcoma
Cholangiocarcinoma
Polycystic liver disease 2
Inborn genetic diseases
Polycystic liver disease 1
Biliary tract abnormality
Autosomal dominant polycystic liver disease
Key Variants
RS115710123
Conflicting classifications of pathogenicity
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, SEC63-related disorder, Uterine carcinosarcoma
Health Risk
RS1324787721
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141211769
Conflicting classifications of pathogenicity
Polycystic liver disease 2, Inborn genetic diseases, SEC63-related disorder
Health Risk
RS201416954
Conflicting classifications of pathogenicity
Polycystic liver disease 2, Polycystic liver disease 2
Health Risk
RS577544394
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS747897071
Conflicting classifications of pathogenicity
Inborn genetic diseases, Polycystic liver disease 2, Inborn genetic diseases
Health Risk
RS749125299
Conflicting classifications of pathogenicity
Polycystic liver disease 2, Polycystic liver disease 2, Polycystic liver disease 2
Health Risk
RS752018806
Conflicting classifications of pathogenicity
Polycystic liver disease 2, Polycystic liver disease 1, SEC63-related disorder
Health Risk
RS758487924
Conflicting classifications of pathogenicity
Polycystic liver disease 2, Biliary tract abnormality, Polycystic liver disease 2
Health Risk
RS779139584
Conflicting classifications of pathogenicity
Polycystic liver disease 2, Polycystic liver disease 2
Health Risk
RS1323035335
Likely pathogenic
Polycystic liver disease 2, Polycystic liver disease 2
Health Risk
RS1787041288
Likely pathogenic
Polycystic liver disease 2, Autosomal dominant polycystic liver disease, Polycystic liver disease 2
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115710123 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, SEC63-related disorder, Uterine carcinosarcoma |
| RS1324787721 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141211769 | Health Risk | Conflicting classifications of pathogenicity | Polycystic liver disease 2, Inborn genetic diseases, SEC63-related disorder |
| RS201416954 | Health Risk | Conflicting classifications of pathogenicity | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS577544394 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747897071 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Polycystic liver disease 2, Inborn genetic diseases |
| RS749125299 | Health Risk | Conflicting classifications of pathogenicity | Polycystic liver disease 2, Polycystic liver disease 2, Polycystic liver disease 2 |
| RS752018806 | Health Risk | Conflicting classifications of pathogenicity | Polycystic liver disease 2, Polycystic liver disease 1, SEC63-related disorder |
| RS758487924 | Health Risk | Conflicting classifications of pathogenicity | Polycystic liver disease 2, Biliary tract abnormality, Polycystic liver disease 2 |
| RS779139584 | Health Risk | Conflicting classifications of pathogenicity | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS1323035335 | Health Risk | Likely pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS1787041288 | Health Risk | Likely pathogenic | Polycystic liver disease 2, Autosomal dominant polycystic liver disease, Polycystic liver disease 2 |
| RS2114403750 | Health Risk | Likely pathogenic | SEC63-related disorder, Autosomal dominant polycystic liver disease, Polycystic liver disease 2 |
| RS2114426916 | Health Risk | Likely pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114458613 | Health Risk | Likely pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114461992 | Health Risk | Likely pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114476499 | Health Risk | Likely pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2481999708 | Health Risk | Likely pathogenic | SEC63-related disorder, SEC63-related disorder |
| RS2482042289 | Health Risk | Likely pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS753182877 | Health Risk | Likely pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS773300876 | Health Risk | Likely pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS869312977 | Health Risk | Likely pathogenic | Polycystic liver disease 1, Polycystic liver disease 2, Polycystic liver disease 1 |
| RS1011931149 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS119103233 | Health Risk | Pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS1381162017 | Health Risk | Pathogenic | — |
| RS1554236269 | Health Risk | Pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS1787002281 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS1787750092 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114406508 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114406531 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114434218 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114446923 | Health Risk | Pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS2114447040 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114453997 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114454119 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114476431 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114476485 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2114487759 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2482054151 | Health Risk | Pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS2482059146 | Health Risk | Pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS2482064962 | Health Risk | Pathogenic | — |
| RS727504146 | Health Risk | Pathogenic | — |
| RS749842172 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS779331877 | Health Risk | Pathogenic | Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS869312978 | Health Risk | Pathogenic | Polycystic liver disease 1, Polycystic liver disease 1 |
| RS886041027 | Health Risk | Pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS886041028 | Health Risk | Pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS1403483213 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant polycystic liver disease, SEC63-related disorder, Polycystic liver disease 2 |
| RS1787039042 | Health Risk | Pathogenic/Likely pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |
| RS752868449 | Health Risk | Pathogenic/Likely pathogenic | Polycystic liver disease 2, Polycystic liver disease 2 |