| Tbio | Phosphatidylinositol-binding clathrin assembly protein |
Assembly protein recruiting clathrin and adapter protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction.
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alzheimer Disease | 83 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Leukemia, Myelocytic, Acute | 120 |
| Disease | Target Count | P-value |
|---|---|---|
| Breast cancer | 3578 | 2.8e-11 |
| juvenile dermatomyositis | 1187 | 1.5e-10 |
| lung adenocarcinoma | 2716 | 8.3e-07 |
| osteosarcoma | 7950 | 2.0e-06 |
| ovarian cancer | 8520 | 7.7e-05 |
| medulloblastoma, large-cell | 6241 | 9.1e-05 |
| Multiple myeloma | 1332 | 1.2e-04 |
| dermatomyositis | 966 | 3.1e-04 |
| ependymoma | 4679 | 2.0e-03 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.9e-03 |
| psoriasis | 6694 | 3.2e-03 |
| Down syndrome | 499 | 6.2e-03 |
| progressive supranuclear palsy | 676 | 9.2e-03 |
| group 4 medulloblastoma | 1855 | 1.5e-02 |
| lung cancer | 4740 | 2.2e-02 |
| Gaucher disease type 1 | 180 | 2.5e-02 |
| glioblastoma | 5792 | 2.9e-02 |
| Astrocytoma, Pilocytic | 3081 | 3.7e-02 |
| astrocytoma | 1146 | 3.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alzheimer's disease | 658 | 5.479 | 2.7 |
| Tic disorder | 8 | 0.0 | 0.7 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Thyroid lymphoma | 1 | 5.563 | 2.8 |
| Dementia | 175 | 4.02 | 2.0 |
| Subvalvular aortic stenosis | 4 | 4.01 | 2.0 |
| Autoimmune thyroiditis | 27 | 3.577 | 1.8 |
| Chronic tic disorder | 8 | 3.24 | 1.6 |
| Disease | Target Count |
|---|---|
| Leukemia, Acute Myeloid | 17 |
| acute T cell leukemia | 17 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytoma | 1.200 | 3.9e-02 |
| Astrocytoma, Pilocytic | 1.100 | 3.7e-02 |
| atypical teratoid / rhabdoid tumor | 1.500 | 2.9e-03 |
| Breast cancer | -1.100 | 2.8e-11 |
| dermatomyositis | 1.300 | 3.1e-04 |
| Down syndrome | 1.100 | 6.2e-03 |
| ependymoma | 1.300 | 2.0e-03 |
| Gaucher disease type 1 | -1.600 | 2.5e-02 |
| glioblastoma | 1.100 | 2.9e-02 |
| group 4 medulloblastoma | -1.100 | 1.5e-02 |
| juvenile dermatomyositis | 1.082 | 1.5e-10 |
| lung adenocarcinoma | 1.549 | 8.3e-07 |
| lung cancer | -1.400 | 2.2e-02 |
| medulloblastoma, large-cell | -2.100 | 9.1e-05 |
| Multiple myeloma | 1.130 | 1.2e-04 |
| osteosarcoma | 2.826 | 2.0e-06 |
| ovarian cancer | -1.400 | 7.7e-05 |
| progressive supranuclear palsy | -1.100 | 9.2e-03 |
| psoriasis | 1.100 | 3.2e-03 |
MSGQSLTDRITAAQHSVTGSAVSKTVCKATTHEIMGPKKKHLDYLIQCTNEMNVNIPQLADSLFERTTNS 1 - 70 SWVVVFKSLITTHHLMVYGNERFIQYLASRNTLFNLSNFLDKSGLQGYDMSTFIRRYSRYLNEKAVSYRQ 71 - 140 VAFDFTKVKRGADGVMRTMNTEKLLKTVPIIQNQMDALLDFNVNSNELTNGVINAAFMLLFKDAIRLFAA 141 - 210 YNEGIINLLEKYFDMKKNQCKEGLDIYKKFLTRMTRISEFLKVAEQVGIDRGDIPDLSQAPSSLLDALEQ 211 - 280 HLASLEGKKIKDSTAASRATTLSNAVSSLASTGLSLTKVDEREKQAALEEEQARLKALKEQRLKELAKKP 281 - 350 HTSLTTAASPVSTSAGGIMTAPAIDIFSTPSSSNSTSKLPNDLLDLQQPTFHPSVHPMSTASQVASTWGD 351 - 420 PFSATVDAVDDAIPSLNPFLTKSSGDVHLSISSDVSTFTTRTPTHEMFVGFTPSPVAQPHPSAGLNVDFE 421 - 490 SVFGNKSTNVIVDSGGFDELGGLLKPTVASQNQNLPVAKLPPSKLVSDDLDSSLANLVGNLGIGNGTTKN 491 - 560 DVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATMAPPVMAYPATTPTGMIGYGIPPQMGSVPVMTQPTLIY 561 - 630 SQPVMRPPNPFGPVSGAQIQFM 631 - 652 //
