| Tbio | TERF1-interacting nuclear factor 2 |
Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.
This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Dyskeratosis congenita | 24 | 6.74 | 3.4 |
| Bone Marrow Diseases | 7 | 0.0 | 0.0 |
| Cerebellar Diseases | 6 | 0.0 | 0.0 |
| DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT | 2 | 0.0 | 0.0 |
| Dyskeratosis Congenita, Autosomal Dominant 3 | 1 | 0.0 | 0.0 |
| Growth Disorders | 35 | 0.0 | 0.0 |
| Nail Diseases | 24 | 0.0 | 0.0 |
| Revesz Debuse syndrome | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| tuberculosis and treatment for 6 months | 409 | 5.8e-05 |
| ovarian cancer | 8520 | 5.4e-04 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Coats disease | 13 | 3.539 | 1.8 |
| Disease | Target Count |
|---|---|
| Aplastic Anemia | 21 |
| Dyskeratosis congenita autosomal dominant | 3 |
| HOYERAAL-HREIDARSSON SYNDROME | 6 |
| Nail disease | 9 |
| Revesz Syndrome | 1 |
| Disease | log2 FC | p |
|---|---|---|
| ovarian cancer | 1.400 | 5.4e-04 |
| tuberculosis and treatment for 6 months | -1.100 | 5.8e-05 |
MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMGLKAKVVVELI 1 - 70 LQGRPWAQVLKALNHHFPESGPIVRDPKATKQDLRKILEAQETFYQQVKQLSEAPVDLASKLQELEQEYG 71 - 140 EPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPGVSITSSLAWRQYGVDMGWLLPECSVTDSVN 141 - 210 LAEPMEQNPPQQQRLALHNPLPKAKPGTHLPQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHK 211 - 280 ERPTVMLFPFRNLGSPTQVISKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPAT 281 - 350 EQKENCLDCYMDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEENGQGEGKESLENYQKTKFDT 351 - 420 LIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL 421 - 451 //
