Gene id |
7991 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
TUSC3 Gene UCSC Ensembl |
Aliases |
D8S1992, M33, MRT22, MRT7, MagT2, N33, OST3A, SLC58A2 |
Gene name |
tumor suppressor candidate 3 |
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, |
Gene location |
8p22 (15540086: 15766648) Exons: 12 NC_000001.11
|
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
|
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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