| Tbio | Inverted formin-2 |
Severs actin filaments and accelerates their polymerization and depolymerization.
This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | 1 | 0.0 | 0.0 |
| Focal Segmental Glomerulosclerosis 5 | 1 | 0.0 | 0.0 |
| Glomerulosclerosis, Focal Segmental | 28 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Focal glomerulosclerosis | 37 |
| Disease | Target Count | P-value |
|---|---|---|
| lung adenocarcinoma | 2716 | 2.1e-08 |
| atypical teratoid/rhabdoid tumor | 357 | 3.2e-06 |
| group 4 medulloblastoma | 1855 | 8.0e-06 |
| medulloblastoma, large-cell | 6241 | 5.0e-04 |
| diabetes mellitus | 1728 | 1.2e-03 |
| psoriasis | 6694 | 1.9e-03 |
| osteosarcoma | 7950 | 2.1e-02 |
| COPD | 118 | 5.0e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neuropathy | 261 | 3.747 | 1.9 |
| Charcot-Marie-Tooth disease | 62 | 0.0 | 4.0 |
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Focal segmental glomerulosclerosis | 10 | 5.733 | 2.9 |
| Nephrotic Syndrome | 78 | 3.921 | 2.0 |
| end stage renal failure | 8 | 3.262 | 1.6 |
| Disease | Target Count |
|---|---|
| Charcot-Marie-Tooth disease dominant intermediate E | 1 |
| Disease | log2 FC | p |
|---|---|---|
| atypical teratoid/rhabdoid tumor | -1.100 | 3.2e-06 |
| COPD | -1.100 | 5.0e-02 |
| diabetes mellitus | 2.000 | 1.2e-03 |
| group 4 medulloblastoma | -1.600 | 8.0e-06 |
| lung adenocarcinoma | 1.400 | 2.1e-08 |
| medulloblastoma, large-cell | -1.300 | 5.0e-04 |
| osteosarcoma | 1.182 | 2.1e-02 |
| psoriasis | 1.100 | 1.9e-03 |
MSVKEGAQRKWAALKEKLGPQDSDPTEANLESADPELCIRLLQMPSVVNYSGLRKRLEGSDGGWMVQFLE 1 - 70 QSGLDLLLEALARLSGRGVARISDALLQLTCVSCVRAVMNSRQGIEYILSNQGYVRQLSQALDTSNVMVK 71 - 140 KQVFELLAALCIYSPEGHVLTLDALDHYKTVCSQQYRFSIVMNELSGSDNVPYVVTLLSVINAVILGPED 141 - 210 LRARTQLRNEFIGLQLLDVLARLRDLEDADLLIQLEAFEEAKAEDEEELLRVSGGVDMSSHQEVFASLFH 211 - 280 KVSCSPVSAQLLSVLQGLLHLEPTLRSSQLLWEALESLVNRAVLLASDAQECTLEEVVERLLSVKGRPRP 281 - 350 SPLVKAHKSVQANLDQSQRGSSPQNTTTPKPSVEGQQPAAAAACEPVDHAQSESILKVSQPRALEQQAST 351 - 420 PPPPPPPPLLPGSSAEPPPPPPPPPLPSVGAKALPTAPPPPPLPGLGAMAPPAPPLPPPLPGSCEFLPPP 421 - 490 PPPLPGLGCPPPPPPLLPGMGWGPPPPPPPLLPCTCSPPVAGGMEEVIVAQVDHGLGSAWVPSHRRVNPP 491 - 560 TLRMKKLNWQKLPSNVAREHNSMWASLSSPDAEAVEPDFSSIERLFSFPAAKPKEPTMVAPRARKEPKEI 561 - 630 TFLDAKKSLNLNIFLKQFKCSNEEVAAMIRAGDTTKFDVEVLKQLLKLLPEKHEIENLRAFTEERAKLAS 631 - 700 ADHFYLLLLAIPCYQLRIECMLLCEGAAAVLDMVRPKAQLVLAACESLLTSRQLPIFCQLILRIGNFLNY 701 - 770 GSHTGDADGFKISTLLKLTETKSQQNRVTLLHHVLEEAEKSHPDLLQLPRDLEQPSQAAGINLEIIRSEA 771 - 840 SSNLKKLLETERKVSASVAEVQEQYTERLQASISAFRALDELFEAIEQKQRELADYLCEDAQQLSLEDTF 841 - 910 STMKAFRDLFLRALKENKDRKEQAAKAERRKQQLAEEEARRPRGEDGKPVRKGPGKQEEVCVIDALLADI 911 - 980 RKGFQLRKTARGRGDTDGGSKAASMDPPRATEPVATSNPAGDPVGSTRCPASEPGLDATTASESRGWDLV 981 - 1050 DAVTPGPQPTLEQLEEGGPRPLERRSSWYVDASDVLTTEDPQCPQPLEGAWPVTLGDAQALKPLKFSSNQ 1051 - 1120 PPAAGSSRQDAKDPTSLLGVLQAEADSTSEGLEDAVHSRGARPPAAGPGGDEDEDEEDTAPESALDTSLD 1121 - 1190 KSFSEDAVTDSSGSGTLPRARGRASKGTGKRRKKRPSRSQEEVPPDSDDNKTKKLCVIQ 1191 - 1249 //
