|
Gene id |
5990 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
RFX2 Gene UCSC Ensembl |
|
Gene name |
regulatory factor X2 |
|
Alternate names |
DNA-binding protein RFX2, HLA class II regulatory factor RFX2, regulatory factor X 2, regulatory factor X, 2 (influences HLA class II expression), trans-acting regulatory factor 2, |
|
Gene location |
19p13.3 (6110600: 5993163) Exons: 18 NC_000002.12
|
|
Gene summary(Entrez) |
This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, a
|
|
OMIM |
142765 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Mental disorder | GAD: 20889312 |
| Associated with mouse spermatogenesis | MIK: 20003220 |
| Spermatogenesis defects | MIK: 15229132 |
| Plays a crucial role in speramtogenesis | MIK: 26162102 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Associated with mouse spermatogenesis | MIK: 20003220 |
| Cryptorchidism | MIK: 28606200 |
| Non obstructive azoospermia | MIK: 24012201 |
| Sertoli cell only syndrome | MIK: 23869807 |
| Plays a role in spermiogenesis | MIK: 26162102 |
| Regulation of gene expression during meiosis and the early development of spermatids | MIK: 15229132 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 20003220 |
Associated
with mous
e spermato
genesis
|
|
|
|
Male infertility |
|
Show abstract |
| 15229132 |
Regulation
of gene e
xpression
during mei
osis and t
he early d
evelopment
of sperma
tids
|
|
|
|
Male infertility |
|
Show abstract |
| 26162102 |
Plays a ro
le in sper
miogenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 24012201 |
Non obstru
ctive azoo
spermia
|
|
|
31 (4 controls,
27 cases)
|
Male infertility |
GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 23869807 |
Non obstru
ctive azoo
spermia, S
ertoli cel
l only syn
drome
|
|
|
20 (4 controls,
16 cases)
|
Male infertility |
GSE45887 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 |
|