|
Gene id |
10664 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CTCF Gene UCSC Ensembl |
|
Aliases |
MRD21 |
|
Gene name |
CCCTC-binding factor |
|
Alternate names |
transcriptional repressor CTCF, 11 zinc finger transcriptional repressor, 11-zinc finger protein, CCCTC-binding factor (zinc finger protein), CTCFL paralog, |
|
Gene location |
16q22.1 (67562525: 67639184) Exons: 13 NC_000007.14
|
|
Gene summary(Entrez) |
This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA tar
|
|
OMIM |
604167 |
|
| Associated diseases |
References |
| Cancer (breast) | GAD: 15084242 |
| Coronary heart disease | GAD: 19060911 |
| Mental retardation | KEGG: H00773 |
| Spermatogenesis defects | MIK: 27345455 |
| Male factor infertility | MIK: 27345455 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Associated with spermatogenesis and epigenetic regulation | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Role in spermatogenesis, Male infertility | MIK: 27345455 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 27345455 |
Role in sp
ermatogene
sis, 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 |
| 21674046 |
Associated
with sper
matogenesi
s and epig
enetic reg
ulation
|
|
|
18
|
Male infertility |
GSE26881
|
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 |
|