|
Gene id |
1788 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
DNMT3A Gene UCSC Ensembl |
|
Aliases |
DNMT3A2, M.HsaIIIA, TBRS |
|
Gene name |
DNA methyltransferase 3 alpha |
|
Alternate names |
DNA (cytosine-5)-methyltransferase 3A, DNA (cytosine-5-)-methyltransferase 3 alpha, DNA MTase HsaIIIA, DNA cytosine methyltransferase 3A2, |
|
Gene location |
2p23.3 (25342589: 25227873) Exons: 34 NC_000002.12
|
|
Gene summary(Entrez) |
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA met
|
|
OMIM |
602769 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
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| Associated diseases |
References |
| Cancer | GAD: 18381459 |
| Spinal dysraphism | GAD: 19161160 |
| Myelodysplastic syndrome | KEGG: H01481 |
| Crohn's disease | GAD: 21102463 |
| Endometriosis | INFBASE: 22349384 |
| Non obstructive azoospermia | MIK: 31030726 |
| Tatton-Brown-Rahman syndrome | OMIM: 602769 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Associated with spermatogenesis and epigenetic regulation | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Low sperm motility | MIK: 21674046 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 21674046 |
Low sperm
motility
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|