|
Gene id |
29072 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SETD2 Gene UCSC Ensembl |
|
Aliases |
HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, SET2, p231HBP |
|
Gene name |
SET domain containing 2, histone lysine methyltransferase |
|
Alternate names |
histone-lysine N-methyltransferase SETD2, SET domain containing 2, huntingtin interacting protein 1, huntingtin yeast partner B, huntingtin-interacting protein B, lysine N-methyltransferase 3A, protein-lysine N-methyltransferase SETD2, |
|
Gene location |
3p21.31 (47164112: 47016407) Exons: 26 NC_000001.11
|
|
Gene summary(Entrez) |
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting
|
|
OMIM |
612778 |
|
| Pathway id | Pathway name |
|---|
| hsa00010 | Glycolysis / Gluconeogenesis | |
|
| Associated diseases |
References |
| Cryptorchidism | MIK: 28606200 |
| Sperm defects | MIK: 29716999 |
| Male infertility | MIK: 29716999 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29716999 |
Sperm defe
cts, Male
infertilit
y
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 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 |
|