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Gene id |
7991 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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Gene Symbol |
TUSC3 Gene UCSC Ensembl |
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Aliases |
D8S1992, M33, MRT22, MRT7, MagT2, N33, OST3A, SLC58A2 |
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Gene name |
tumor suppressor candidate 3 |
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Alternate names |
tumor suppressor candidate 3, dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3, magnesium uptake/transporter TUSC3, mental retardation, non-syndromic, autosomal recessive, 22, oligosaccharyl transferase subunit TUSC3, oligosaccharyl, |
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Gene location |
8p22 (15540086: 15766648) Exons: 12 NC_000001.11
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Gene summary(Entrez) |
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
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OMIM |
601385 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
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| Pathway id | Pathway name |
| hsa01100 | Metabolic pathways | | hsa01100 | Metabolic pathways | | hsa04141 | Protein processing in endoplasmic reticulum | | hsa00513 | Various types of N-glycan biosynthesis | | hsa00510 | N-Glycan biosynthesis | |
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| Associated diseases |
References |
| Mental retardation | KEGG: H00768 |
| Spermatogenesis defects | MIK: 24096664 |
| Inducing sperm differentiation and maturation | MIK: 24096664 |
| Asthma | GAD: 22424883 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Spermatogenic defects | MIK: 31037746 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24096664 |
Involved i n spermato genesis in the testi s, inducin g sperm di fferentiat ion and ma turation
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Male infertility |
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Show abstract |
| 21674046 |
Aberrant C pGs in Low Motility Sperm
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18
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Male infertility |
GSE26881
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Show abstract |
| 31037746 |
Spermatoge nic defect s
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16 (1 control, 15 cases)
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Male infertility |
GSE6023 analyzed using GEO2R
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Show abstract |
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