|
Gene id |
64754 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SMYD3 Gene UCSC Ensembl |
|
Aliases |
KMT3E, ZMYND1, ZNFN3A1, bA74P14.1 |
|
Gene name |
SET and MYND domain containing 3 |
|
Alternate names |
histone-lysine N-methyltransferase SMYD3, SET and MYND domain-containing protein 3, bA74P14.1 (novel protein), zinc finger MYND domain-containing protein 1, zinc finger protein, subfamily 3A (MYND domain containing), 1, zinc finger, MYND domain containing 1, |
|
Gene location |
1q44 (246507317: 245749339) Exons: 30 NC_000005.10
|
|
Gene summary(Entrez) |
This gene encodes a histone methyltransferase which functions in RNA polymerase II complexes by an interaction with a specific RNA helicase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2
|
|
OMIM |
608783 |
|
|
|
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| Associated diseases |
References |
| Cancer (liver) | GAD: 17431393 |
| Cancer (squamous cell) | GAD: 18294291 |
| Cancer (breast) | GAD: 16155568 |
| May influence transcriptional regulation during spermatogenesis | MIK: 16081583 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 16081583 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 16081583 |
May influe
nce transc
riptional
regulation
during sp
ermatogene
sis
|
|
|
|
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 |
|