|
Gene id |
9945 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
GFPT2 Gene UCSC Ensembl |
|
Aliases |
GFAT, GFAT 2, GFAT2 |
|
Gene name |
glutamine-fructose-6-phosphate transaminase 2 |
|
Alternate names |
glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2, D-fructose-6-phosphate amidotransferase 2, glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2, glutamine: fructose-6-phosphate aminotransferase 2, glutamine:fructose-6-phosphate, |
|
Gene location |
5q35.3 (180353335: 180300697) Exons: 19 NC_000005.10
|
|
OMIM |
603865 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Diabetes | GAD: 14764791 |
| Parkinson disease | GAD: 20070850 |
| Chronic kidney failure | GAD: 20353610 |
| Asthenozoospermia | MIK: 30849544 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Asthenozoospermia | MIK: 30849544 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 30849544 |
Asthenozoo
spermia
|
c.1097G?>?A; p.Arg366Gln |
Iranian
|
435 (400 ancest
ry-matched Iran
ian fertile men
, 30 unrelated
men with idiopa
thic Asthenizoo
spermia, 5 infe
rtile women)
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|