|
Gene id |
7014 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TERF2 Gene UCSC Ensembl |
|
Aliases |
TRBF2, TRF2 |
|
Gene name |
telomeric repeat binding factor 2 |
|
Alternate names |
telomeric repeat-binding factor 2, TTAGGG repeat-binding factor 2, telomeric DNA-binding protein, telomeric repeat binding protein 2, |
|
Gene location |
16q22.1 (69386006: 69355566) Exons: 11 NC_000009.12
|
|
Gene summary(Entrez) |
This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role i
|
|
OMIM |
602027 |
|
| Associated diseases |
References |
| Cancer (bladder) | GAD: 19692168 |
| Cancer (breast) | GAD: 20056641 |
| Cancer (endometrial) | GAD: 20549820 |
| Cancer (lung) | GAD: 18676680 |
| Cancer (hepatocellular) | GAD: 19817957 |
| Cardiovascular disease | GAD: 20937264 |
| Anemia | GAD: 16647572 |
| Associated with spermatogenesis | MIK: 14967955 |
| Male factor infertility | MIK: 11352070 |
| Spermatogenesis defects | MIK: 24082143 |
| Role in male germ cell differentiation during spermatogenesis | MIK: 11472857 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 19625176 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Male infertility | MIK: 11352070 |
| Associated with spermatogenesis | MIK: 14967955 |
| Regulates spermiogenesis | MIK: 24082143 |
| Spermatogenic defects | MIK: 11472857 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 14967955 |
Associated
with sper
matogenesi
s
|
|
|
|
Male infertility |
|
Show abstract |
| 11472857 |
Role in ma
le germ ce
ll differe
ntiation d
uring sper
matogenesi
s
|
|
|
|
Male infertility |
|
Show abstract |
| 11352070 |
Assocaited
with sper
miogenesis
, Male inf
ertility
|
|
|
|
Male infertility |
|
Show abstract |
| 24082143 |
Regulates
spermiogen
esis
|
|
|
|
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 |
|