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Gene id |
7307 |
| Gene Summary Protein Summary KEGG pathways Diseases PubMed |
Gene Summary
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Gene Symbol |
U2AF1 Gene UCSC Ensembl |
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Aliases |
FP793, RN, RNU2AF1, U2AF35, U2AFBP |
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Gene name |
U2 small nuclear RNA auxiliary factor 1 |
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Alternate names |
splicing factor U2AF 35 kDa subunit, U2 small nuclear RNA auxillary factor 1, U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunit, U2 snRNP auxiliary factor small subunit, U2(RNU2) small nuclear RNA auxiliary factor binding protein, splicing fac, |
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Gene location |
21q22.3 (43108290: 43092955) Exons: 11 NC_000021.9
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Gene summary(Entrez) |
This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which pl
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OMIM |
601949 |
Protein Summary
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| Associated diseases |
References |
| Myelodysplastic/myeloproliferative neoplasms | KEGG:H02410 |
| Chronic myelomonocytic leukemia | KEGG:H02411 |
| Myelodysplastic syndrome | KEGG:H01481 |
| Myelodysplastic/myeloproliferative neoplasms | KEGG:H02410 |
| Chronic myelomonocytic leukemia | KEGG:H02411 |
| Myelodysplastic syndrome | KEGG:H01481 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Unexplained infertility | MIK: 25753583 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
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|
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18
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Male infertility |
GSE26881
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Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
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46 (17 fertile
men, 29 male pa
tients)
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Male infertility |
Microarray
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Show abstract |
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