Entrez Gene ID | 7991 |
---|---|
Official Gene Symbol | TUSC3 (GeneCards) |
Full name | tumor suppressor candidate 3 |
Location | 8p22 |
Other ids | Vega : OTTHUMG00000094803 MIM : 601385 HGNC : HGNC:30242 Ensembl : ENSG00000104723 |
Other names | M33, N33, MRT7, MRT22, MagT2, OST3A, D8S1992 |
Summary | This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017] |
Found 10 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
11694 | 7991 | TUSC3 | 8 | 15701012 | 15701012 | Asymptomatic | HiSeq 2000 |
11756 | 7991 | TUSC3 | 8 | 15570948 | 15570948 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
11813 | 7991 | TUSC3 | 8 | 15706162 | 15706162 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
11992 | 7991 | TUSC3 | 8 | 15440672 | 15440672 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
12211 | 7991 | TUSC3 | 8 | 15466734 | 15466734 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
12379 | 7991 | TUSC3 | 8 | 15483422 | 15483422 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
12428 | 7991 | TUSC3 | 8 | 15952212 | 15952212 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
12617 | 7991 | TUSC3 | 8 | 15450127 | 15450127 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
12737 | 7991 | TUSC3 | 8 | 15416469 | 15416469 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
26552 | 7991 | TUSC3 | 8 | 15495284 | 15495284 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |