|
Gene id |
7013 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TERF1 Gene UCSC Ensembl |
|
Aliases |
PIN2, TRBF1, TRF, TRF1, hTRF1-AS, t-TRF1 |
|
Gene name |
telomeric repeat binding factor 1 |
|
Alternate names |
telomeric repeat-binding factor 1, NIMA-interacting protein 2, TTAGGG repeat-binding factor 1, telomeric protein Pin2/TRF1, telomeric repeat binding factor (NIMA-interacting) 1, |
|
Gene location |
8q21.11 (73008855: 73048122) Exons: 12 NC_000015.10
|
|
Gene summary(Entrez) |
This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of
|
|
OMIM |
600951 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Cancer (bladder) | GAD: 19692168 |
| Cancer (breast) | GAD: 19766477 |
| Cancer (endometrial) | GAD: 20549820 |
| Cancer (lung) | GAD: 18676680 |
| Cancer (hepatocellular) | GAD: 19817957 |
| Cardiovascular disease | GAD: 20937264 |
| Anemia | GAD: 16647572 |
| Male factor infertility | MIK: 29083416 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 19625176 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Male infertility | MIK: 29083416 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29083416 |
Male infer
tility
|
|
|
|
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 |
|