Gene
inf2
- ID
- ZDB-GENE-140711-5
- Name
- inverted formin 2
- Symbol
- inf2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including glomerular filtration; podocyte development; and slit diaphragm assembly. Is expressed in several structures, including blood vessel; digestive system; eye; pronephros; and somite. Used to study glomerulosclerosis. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate E and focal segmental glomerulosclerosis 5. Orthologous to human INF2 (inverted formin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Sun et al., 2014
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease dominant intermediate E | Alliance | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 |
| focal segmental glomerulosclerosis 5 | Alliance | Glomerulosclerosis, focal segmental, 5 | 613237 |
1 - 2 of 2
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| glomerulosclerosis | WT + MO1-inf2 | standard conditions | Sun et al., 2014 |
1 - 1 of 1
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
- Genome Browsers
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-inf2 | polyclonal | Rabbit |
|
Sigma-Aldrich
|
2 |
1 - 1 of 1
Plasmids
No data available
- Comparative Orthology
- Alliance
- Müller-Deile, J., Schenk, H., Niggemann, P., Bolaños-Palmieri, P., Teng, B., Higgs, A., Staggs, L., Haller, H., Schroder, P., Schiffer, M. (2019) Mutation of microphthalmia-associated transcription factor (mitf) in zebrafish sensitizes for glomerulopathy. Biology Open. 8(3):
- Smith, L.C., Clark, J.C., Bisesi, J.H., Ferguson, P.L., Sabo-Attwood, T. (2016) Differential recruitment of co-regulatory proteins to the human estrogen receptor 1 in response to xenoestrogens. Comparative biochemistry and physiology. Part D, Genomics & proteomics. 19:159-73
- Schiffer, M., Teng, B., Gu, C., Shchedrina, V.A., Kasaikina, M., Pham, V.A., Hanke, N., Rong, S., Gueler, F., Schroder, P., Tossidou, I., Park, J.K., Staggs, L., Haller, H., Erschow, S., Hilfiker-Kleiner, D., Wei, C., Chen, C., Tardi, N., Hakroush, S., Selig, M.K., Vasilyev, A., Merscher, S., Reiser, J., Sever, S. (2015) Pharmacological targeting of actin-dependent dynamin oligomerization ameliorates chronic kidney disease in diverse animal models. Nature medicine. 21:601-9
- Sun, H., Al-Romaih, K.I., MacRae, C.A., Pollak, M.R. (2014) Human Kidney Disease-causing INF2 Mutations Perturb Rho/Dia Signaling in the Glomerulus. EBioMedicine. 1:107-15
1 - 4 of 4
Show