| 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 |
|---|---|
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | 1 |
| Focal glomerulosclerosis | 22 |
| Disease | Target Count | P-value |
|---|---|---|
| lung adenocarcinoma | 2714 | 2.05880248202549E-8 |
| atypical teratoid/rhabdoid tumor | 1095 | 3.17192120856575E-6 |
| group 4 medulloblastoma | 1875 | 8.04329987320741E-6 |
| medulloblastoma, large-cell | 6234 | 5.01657762648009E-4 |
| diabetes mellitus | 1663 | 0.00123804077722064 |
| psoriasis | 6685 | 0.00193159216134751 |
| osteosarcoma | 7933 | 0.0205843860534173 |
| COPD | 116 | 0.0496004346869583 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neuropathy | 210 | 3.706 | 1.9 |
| Charcot-Marie-Tooth disease | 74 | 0.0 | 4.0 |
| Neurodegenerative disease | 383 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Focal segmental glomerulosclerosis | 8 | 5.673 | 2.8 |
| Nephrotic Syndrome | 48 | 3.778 | 1.9 |
| Disease | Target Count |
|---|---|
| Charcot-Marie-Tooth disease dominant intermediate E | 1 |
| Focal segmental glomerulosclerosis 5 | 1 |
| Disease | Target Count |
|---|---|
| Charcot-Marie-Tooth disease, dominant, intermediate type, E | 1 |
| Disease | log2 FC | p |
|---|---|---|
| psoriasis | 1.100 | 0.002 |
| osteosarcoma | 1.182 | 0.021 |
| group 4 medulloblastoma | -1.600 | 0.000 |
| medulloblastoma, large-cell | -1.300 | 0.001 |
| diabetes mellitus | 2.000 | 0.001 |
| atypical teratoid/rhabdoid tumor | -1.100 | 0.000 |
| lung adenocarcinoma | 1.400 | 0.000 |
| COPD | -1.100 | 0.050 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA EggNOG |
| Dog | OMA EggNOG |
| Horse | OMA EggNOG |
| Cow | OMA EggNOG |
| Opossum | EggNOG Inparanoid |
| Platypus | OMA Inparanoid |
| Chicken | OMA EggNOG |
| Anole lizard | OMA EggNOG Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| PMID | Text |
|---|---|
| 26305500 | The authors propose Spire1C isoform cooperates with INF2 to regulate actin assembly at endoplasmic reticulum-mitochondrial contacts. |
| 26124273 | Assembly and turnover of short actin filaments by the formin INF2 and profilin. |
| 26039629 | Report novel mutations in the inverted formin 2 gene of Chinese families contributing to focal segmental glomerulosclerosis. |
| 25165188 | INF2 mutations are associated with focal segmental glomerulosclerosis. |
| 24174593 | this study identifed three novel mutations of INF likely efect hereditary neuropathy with glomerulopathy. |
| 23921379 | actin monomer binding to the DAD of INF2 competes with the DID/DAD interaction, thereby activating actin polymerization |
| 23847988 | INF2 mutation was detected both father and his son |
| 23620398 | In podocytes, INF2 appears to be an important modulator of actin-dependent behaviors that are under the control of Rho/mDia signaling. |
| 23521651 | This study showed that INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis. |
| 23349293 | study found actin polymerization through ER-localized INF2 was required for efficient mitochondrial fission; INF2-induced actin filaments may drive initial mitochondrial constriction, which allows Drp1-driven secondary constriction |
| More... |
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 //
| PMID | Year | Title |
|---|---|---|
| 26305500 | 2015 | A mitochondria-anchored isoform of the actin-nucleating spire protein regulates mitochondrial division. |
| 26124273 | 2015 | Assembly and turnover of short actin filaments by the formin INF2 and profilin. |
| 26039629 | 2015 | Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis. |
| 25676889 | 2015 | Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. |
| 25165188 | 2014 | Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. |
| 24750328 | 2014 | A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. |
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
| 24174593 | 2013 | De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. |
| 23921379 | 2013 | Actin monomers activate inverted formin 2 by competing with its autoinhibitory interaction. |
| 23847988 | 2013 | [Case report; A case of familial focal segmental glomerulosclerosis with a mutation in the formin INF2]. |
| More... |
