|
Gene id |
27125 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
AFF4 Gene UCSC Ensembl |
|
Aliases |
AF5Q31, CHOPS, MCEF |
|
Gene name |
AF4/FMR2 family member 4 |
|
Alternate names |
AF4/FMR2 family member 4, ALL1-fused gene from chromosome 5q31 protein, major CDK9 elongation factor-associated protein, |
|
Gene location |
5q31.1 (132963654: 132875380) Exons: 23 NC_000005.10
|
|
Gene summary(Entrez) |
The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on
|
|
OMIM |
604417 |
|
| Associated diseases |
References |
| Male germ cell differentiation and survival | MIK: 16024815 |
| CHOPS syndrome | KEGG: H01569 |
| Cryptorchidism | MIK: 28606200 |
| Functions as a transcriptional regulator in testicular somatic cells and is essential for male germ cell differentiation and survival | MIK: 16024815 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 16024815 |
Functions
as a trans
criptional
regulator
in testic
ular somat
ic cells a
nd is esse
ntial for
male germ
cell diffe
rentiation
and survi
val.
|
|
|
|
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 |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|