INF2
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Also known as MGC13251
Summary
INF2 (inverted formin 2, HGNC:23791) is a protein-coding gene on chromosome 14q32.33, encoding Inverted formin-2 (Q27J81). 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.
Source: NCBI Gene 64423 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Charcot-Marie-Tooth disease dominant intermediate E (Definitive, ClinGen) — +2 more curated relationships
- Clinical variants (ClinVar): 1,814 total — 19 pathogenic, 29 likely-pathogenic
- Phenotypes (HPO): 40
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_022489
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23791 |
| Approved symbol | INF2 |
| Name | inverted formin 2 |
| Location | 14q32.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC13251 |
| Ensembl gene | ENSG00000203485 |
| Ensembl biotype | protein_coding |
| OMIM | 610982 |
| Entrez | 64423 |
Gene structure
Transcript identifiers
Ensembl transcripts: 51 — 20 nonsense_mediated_decay, 16 protein_coding, 10 protein_coding_CDS_not_defined, 5 retained_intron
ENST00000252527, ENST00000330634, ENST00000392634, ENST00000398337, ENST00000474229, ENST00000477497, ENST00000480763, ENST00000481338, ENST00000540171, ENST00000617571, ENST00000674520, ENST00000674602, ENST00000674631, ENST00000674662, ENST00000674686, ENST00000674723, ENST00000674757, ENST00000674822, ENST00000674846, ENST00000674857, ENST00000674869, ENST00000674960, ENST00000674966, ENST00000674991, ENST00000674994, ENST00000675029, ENST00000675207, ENST00000675248, ENST00000675313, ENST00000675329, ENST00000675424, ENST00000675481, ENST00000675482, ENST00000675557, ENST00000675583, ENST00000675603, ENST00000675616, ENST00000675638, ENST00000675724, ENST00000675743, ENST00000675771, ENST00000675797, ENST00000675809, ENST00000675930, ENST00000675980, ENST00000676016, ENST00000676100, ENST00000676134, ENST00000676366, ENST00000676427, ENST00000896057
RefSeq mRNA: 10 — MANE Select: NM_022489
NM_001031714, NM_001426862, NM_001426863, NM_001426864, NM_001426865, NM_001426866, NM_001426867, NM_001426868, NM_022489, NM_032714
CCDS: CCDS41999, CCDS45173, CCDS9989
Canonical transcript exons
ENST00000392634 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001563893 | 104689618 | 104689739 |
| ENSE00001602437 | 104706910 | 104707051 |
| ENSE00001636790 | 104708436 | 104708587 |
| ENSE00001641120 | 104712828 | 104712992 |
| ENSE00001647696 | 104701357 | 104701756 |
| ENSE00001651677 | 104703295 | 104703454 |
| ENSE00001685636 | 104708671 | 104708732 |
| ENSE00001692626 | 104706035 | 104706176 |
| ENSE00001716246 | 104707253 | 104708002 |
| ENSE00001735587 | 104703105 | 104703220 |
| ENSE00002534063 | 104703916 | 104703949 |
| ENSE00003465676 | 104709620 | 104709705 |
| ENSE00003466707 | 104710937 | 104711007 |
| ENSE00003513118 | 104713207 | 104713309 |
| ENSE00003521248 | 104715284 | 104715340 |
| ENSE00003522525 | 104711629 | 104711699 |
| ENSE00003533214 | 104709281 | 104709383 |
| ENSE00003606366 | 104714203 | 104714856 |
| ENSE00003622442 | 104711079 | 104711186 |
| ENSE00003629006 | 104712433 | 104712553 |
| ENSE00003659540 | 104713445 | 104713606 |
| ENSE00003692457 | 104710088 | 104710188 |
| ENSE00003842221 | 104718795 | 104722535 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 99.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.6872 / max 523.5125, expressed in 1814 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 141828 | 51.5087 | 1811 |
| 141829 | 3.7853 | 1381 |
| 141833 | 1.8470 | 1029 |
| 141834 | 1.1572 | 689 |
| 141832 | 0.6243 | 400 |
| 141826 | 0.6180 | 269 |
| 141830 | 0.1270 | 73 |
| 141831 | 0.0197 | 6 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 99.20 | gold quality |
| nerve | UBERON:0001021 | 99.18 | gold quality |
| tibial nerve | UBERON:0001323 | 99.18 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.81 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.63 | gold quality |
| right coronary artery | UBERON:0001625 | 98.13 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.77 | gold quality |
| left coronary artery | UBERON:0001626 | 97.70 | gold quality |
| spinal cord | UBERON:0002240 | 97.62 | gold quality |
| transverse colon | UBERON:0001157 | 97.59 | gold quality |
| popliteal artery | UBERON:0002250 | 97.57 | gold quality |
| tibial artery | UBERON:0007610 | 97.57 | gold quality |
| putamen | UBERON:0001874 | 97.56 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.43 | gold quality |
| coronary artery | UBERON:0001621 | 97.37 | gold quality |
| omental fat pad | UBERON:0010414 | 97.34 | gold quality |
| peritoneum | UBERON:0002358 | 97.29 | gold quality |
| aorta | UBERON:0000947 | 97.19 | gold quality |
| body of stomach | UBERON:0001161 | 97.17 | gold quality |
| apex of heart | UBERON:0002098 | 97.04 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.00 | gold quality |
| ascending aorta | UBERON:0001496 | 96.97 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.91 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.89 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.88 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.87 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.77 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 96.61 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.55 | gold quality |
| right lung | UBERON:0002167 | 96.55 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting INF2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-4656 | 98.79 | 66.22 | 1306 |
| HSA-MIR-12125 | 98.59 | 67.54 | 1044 |
| HSA-MIR-5589-5P | 98.34 | 64.82 | 1148 |
| HSA-MIR-6849-3P | 97.25 | 64.57 | 1371 |
| HSA-MIR-4701-5P | 96.45 | 68.41 | 1121 |
| HSA-MIR-588 | 96.45 | 68.36 | 1127 |
| HSA-MIR-555 | 95.92 | 65.25 | 564 |
| HSA-MIR-564 | 95.85 | 65.01 | 163 |
| HSA-MIR-8071 | 95.69 | 64.93 | 484 |
| HSA-MIR-2114-3P | 95.45 | 66.11 | 579 |
| HSA-MIR-6823-3P | 95.45 | 66.14 | 704 |
| HSA-MIR-2861 | 95.24 | 65.47 | 1056 |
| HSA-MIR-885-3P | 95.14 | 63.08 | 448 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- Study identified nine independent nonconservative missense mutations in INF2, which encodes a member of the formin family of actin-regulating proteins. (PMID:20023659)
- In conclusion, we described an additional familial case of the autosomal dominant form of focalsegmental glomerulosclerosis associated with INF2 mutations. (PMID:20803156)
- Six of the seven distinct altered residues localized to an INF2 region that corresponded to a subdomain of the mDia1 diaphanous inhibitory domain reported to co-immunoprecipitate with IQ motif-containing GTPase-activating protein 1 (PMID:21258034)
- The effects of disease-causing INF2 mutations suggest an important role for this protein and its interaction with other formins in modulating glomerular podocyte phenotype and function. (PMID:21278336)
- INF2 mutations were responsible for 16% of all cases of autosomal dominant focal and segmental glomerulosclerosis, with these mutations clustered in exon 4. (PMID:21866090)
- Splice variant-specific cellular function of the formin INF2 in maintenance of Golgi architecture. (PMID:21998196)
- Actin monomers inhibit microtubule binding/bundling by INF2 (PMID:21998204)
- INF2 mutations appear to cause many cases of FSGS-associated Charcot-Marie-Tooth neuropathy, showing that INF2 is involved in a disease affecting both the kidney glomerulus and the peripheral nervous system. (PMID:22187985)
- Mutations to the formin homology 2 domain of INF2 protein have unexpected effects on actin polymerization and severing. (PMID:22879592)
- Our study confirms the link between INF2 mutations and Charcot-Marie-Tooth-associated glomerulopathy and widens the spectrum of pathogenic mutations. (PMID:22961558)
- A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis. (PMID:22971997)
- Formation of stabilized, detyrosinated microtubules required the formin INF2. (PMID:22986496)
- INF2 mutations were found in 2 of 281 individuals with sporadicfocal and segmental glomerulosclerosis (PMID:23014460)
- 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 (PMID:23349293)
- This study showed that INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis. (PMID:23521651)
- In podocytes, INF2 appears to be an important modulator of actin-dependent behaviors that are under the control of Rho/mDia signaling. (PMID:23620398)
- INF2 mutation was detected both father and his son (PMID:23847988)
- actin monomer binding to the DAD of INF2 competes with the DID/DAD interaction, thereby activating actin polymerization (PMID:23921379)
- this study identifed three novel mutations of INF likely efect hereditary neuropathy with glomerulopathy. (PMID:24174593)
- INF2 mutations are associated with focal segmental glomerulosclerosis. (PMID:25165188)
- Report novel mutations in the inverted formin 2 gene of Chinese families contributing to focal segmental glomerulosclerosis. (PMID:26039629)
- Assembly and turnover of short actin filaments by the formin INF2 and profilin. (PMID:26124273)
- The authors propose Spire1C isoform cooperates with INF2 to regulate actin assembly at endoplasmic reticulum-mitochondrial contacts. (PMID:26305500)
- Propose that examination of INF2 expression may help to differentiate minimal change disease from focal segmental glomerulosclerosis and evaluate the clinical severity of steroid resistance nephrotic syndrome in children. (PMID:26383224)
- FHOD1 and INF2 are novel regulators of inter- and intra-structural contractility of podosomes. (PMID:26621033)
- Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ alpha-1) and profilin 2. (PMID:26764407)
- All individuals with INF2 mutations presenting with a thrombotic microangiopathy also had atypical hemolytic uremic syndrome risk haplotypes, potentially accounting for the genetic pleiotropy (PMID:27974406)
- hese findings reveal novel molecular events underlying the regulation of INF2 function and localization, and provided insights in understanding the relationship between SPOP mutations and dysregulation of mitochondrial dynamics in prostate cancer. (PMID:28448495)
- INF2-mediated actin polymerization on the endoplasmic reticulum stimulates mitochondrial division by two independent mechanisms: (1) mitochondrial calcium uptake, leading to inner mitochondrial membrane constriction; and (2) Drp1 oligomerization, leading to outer mitochondrial membrane constriction. (PMID:29142021)
- Studies indicate that INF2, a formin, that is mutated in hereditary renal and neurodegenerative disorders. (PMID:29947928)
- INF2 seems to be not only the cause of FSGS, but also of ESRD of unknown etiology. (PMID:30126379)
- our results indicated that oxidative stress-mediated HaCaT cells apoptosis could be reversed by Tan IIA treatment via reducing INF2-related mitochondrial stress in a manner dependent on the ERK signaling pathway. (PMID:31354004)
- The phenotypic feature of the pedigree is autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis, which may be attributed to the c.341G>A mutation of the INF2 gene. (PMID:31515790)
- Study used lysine-to-glutamine mutations to map the relevant lysines on actin for INF2 regulation. K50Q- and K61Q-actin, when bound to CAP2, inhibit full-length INF2 but not INF2 lacking inhibitory domain (DID). CAP WH2 domain binds INF2-DID with submicromolar affinity but has weak affinity for actin monomers, while INF2-C-terminal diaphanous autoregulatory domain binds CAP/K50Q-actin 5-fold better than CAP/WT-actin. (PMID:31871199)
- FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes. (PMID:31924668)
- Multiple formin proteins participate in glioblastoma migration. (PMID:32727404)
- Steroid Resistant Nephrotic Syndrome with Clumsy Gait Associated With INF2 Mutation. (PMID:32844773)
- Role of formin INF2 in human diseases. (PMID:34698992)
- INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis. (PMID:36637069)
- FBXO7, a tumor suppressor in endometrial carcinoma, suppresses INF2-associated mitochondrial division. (PMID:37344480)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000117069 | |
| mus_musculus | Inf2 | ENSMUSG00000037679 |
| rattus_norvegicus | Inf2 | ENSRNOG00000028650 |
| caenorhabditis_elegans | WBGENE00018976 | |
| caenorhabditis_elegans | WBGENE00019030 | |
| caenorhabditis_elegans | sydn-1 | WBGENE00021473 |
Paralogs (18): DAAM1 (ENSG00000100592), FNBP4 (ENSG00000109920), DIAPH1 (ENSG00000131504), FHOD3 (ENSG00000134775), FHOD1 (ENSG00000135723), FHDC1 (ENSG00000137460), DIAPH3 (ENSG00000139734), DAAM2 (ENSG00000146122), DIAPH2 (ENSG00000147202), FMN2 (ENSG00000155816), FMNL2 (ENSG00000157827), FMNL3 (ENSG00000161791), FMNL1 (ENSG00000184922), FAM47A (ENSG00000185448), SHTN1 (ENSG00000187164), FAM47B (ENSG00000189132), FAM47C (ENSG00000198173), GRID2IP (ENSG00000215045)
Protein
Protein identifiers
Inverted formin-2 — Q27J81 (reviewed: Q27J81)
Alternative names: HBEBP2-binding protein C
All UniProt accessions (29): A0A087X118, A0A0A0MQU1, A0A6Q8PEY5, A0A6Q8PEY8, Q27J81, A0A6Q8PF29, A0A6Q8PF44, A0A6Q8PF91, A0A6Q8PFB9, A0A6Q8PFJ1, A0A6Q8PFN5, A0A6Q8PFW4, A0A6Q8PFY4, A0A6Q8PG64, A0A6Q8PGC7, A0A6Q8PGJ8, A0A6Q8PGK9, A0A6Q8PGN3, A0A6Q8PGU8, A0A6Q8PGX4, A0A6Q8PGY8, A0A6Q8PH25, A0A6Q8PH52, A0A6Q8PH59, A0A6Q8PH63, A0A6Q8PH71, A0A6Q8PHA2, A0A6Q8PHG2, A0A6Q8PHS8
UniProt curated annotations — full annotation on UniProt →
Function. Severs actin filaments and accelerates their polymerization and depolymerization.
Subunit / interactions. Interacts with actin at the FH2 domain. Interacts with DAAM2.
Subcellular location. Cytoplasm. Perinuclear region.
Tissue specificity. Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells.
Disease relevance. Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. The disease is caused by variants affecting the gene represented in this entry. Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) [MIM:614455] A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy. The disease is caused by variants affecting the gene represented in this entry.
Activity regulation. Phosphate inhibits both the depolymerization and severing activities.
Domain organisation. The WH2 domain acts as the DAD (diaphanous autoregulatory) domain and binds to actin monomers. Regulated by autoinhibition due to intramolecular GBD-DAD binding. The severing activity is dependent on covalent attachment of the FH2 domain to the C-terminus.
Similarity. Belongs to the formin homology family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q27J81-1 | 1 | yes |
| Q27J81-2 | 2 | |
| Q27J81-3 | 3 |
RefSeq proteins (10): NP_001026884, NP_001413791, NP_001413792, NP_001413793, NP_001413794, NP_001413795, NP_001413796, NP_001413797, NP_071934, NP_116103 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003124 | WH2_dom | Domain |
| IPR010472 | FH3_dom | Domain |
| IPR010473 | GTPase-bd | Domain |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR014768 | GBD/FH3_dom | Domain |
| IPR015425 | FH2_Formin | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR042201 | FH2_Formin_sf | Homologous_superfamily |
Pfam: PF02181, PF02205, PF06367, PF06371
UniProt features (103 total): sequence variant 44, helix 22, modified residue 10, compositionally biased region 6, region of interest 5, domain 3, sequence conflict 3, turn 3, splice variant 2, strand 2, initiator methionine 1, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9B03 | ELECTRON MICROSCOPY | 2.95 |
| 9B0K | ELECTRON MICROSCOPY | 3.03 |
| 9AZ4 | ELECTRON MICROSCOPY | 3.37 |
| 8RV2 | ELECTRON MICROSCOPY | 3.41 |
| 9AZP | ELECTRON MICROSCOPY | 3.79 |
| 9AZQ | ELECTRON MICROSCOPY | 3.82 |
| 9FJN | SOLUTION NMR | |
| 9FJW | SOLUTION NMR | |
| 9G7T | SOLUTION NMR | |
| 9RWF | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q27J81-F1 | 67.34 | 0.30 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (10): 1229, 2, 351, 1147, 1149, 1179, 1192, 1194, 1199, 1206
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 243 (showing top):
GOMF_GTPASE_BINDING, CAGCTG_AP4_Q5, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, GOBP_ORGANELLE_FISSION, GOBP_MITOCHONDRIAL_FISSION, GOBP_ACTIN_FILAMENT_ORGANIZATION, HEN1_01, GOBP_REGULATION_OF_MITOCHONDRIAL_FISSION, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, AACTTT_UNKNOWN, GOMF_ACTIN_BINDING, CUI_TCF21_TARGETS_2_DN, HAMAI_APOPTOSIS_VIA_TRAIL_DN, chr14q32, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP
GO Biological Process (4): actin filament polymerization (GO:0030041), regulation of mitochondrial fission (GO:0090140), cellular component organization (GO:0016043), actin cytoskeleton organization (GO:0030036)
GO Molecular Function (3): actin binding (GO:0003779), small GTPase binding (GO:0031267), protein binding (GO:0005515)
GO Cellular Component (3): actin filament (GO:0005884), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| actin polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| mitochondrial fission | 1 |
| regulation of mitochondrion organization | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| cellular component organization or biogenesis | 1 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| cytoskeletal protein binding | 1 |
| GTPase binding | 1 |
| binding | 1 |
| actin cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1634 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| INF2 | ACTN4 | O43707 | 929 |
| INF2 | NPHS1 | O60500 | 928 |
| INF2 | CD2AP | Q9Y5K6 | 925 |
| INF2 | NPHS2 | Q9NP85 | 921 |
| INF2 | PLCE1 | Q9P212 | 920 |
| INF2 | TRPC6 | Q9Y210 | 901 |
| INF2 | APOL1 | O14791 | 831 |
| INF2 | CDC42 | P21181 | 821 |
| INF2 | WT1 | P19544 | 776 |
| INF2 | MYO1E | Q12965 | 756 |
| INF2 | DNM1L | O00429 | 750 |
| INF2 | PFN4 | Q8NHR9 | 720 |
| INF2 | PFN3 | P60673 | 714 |
| INF2 | MAL | P21145 | 712 |
| INF2 | SPIRE1 | Q08AE8 | 675 |
IntAct
76 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| SLC17A5 | LGALS8 | psi-mi:“MI:0914”(association) | 0.640 |
| IGF1R | PIK3R2 | psi-mi:“MI:2364”(proximity) | 0.590 |
| RSPRY1 | NEFL | psi-mi:“MI:0914”(association) | 0.530 |
| CPLX2 | CPLX1 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| PIP | TBKBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| Erh | BCLAF3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| INF2 | UBB | psi-mi:“MI:0915”(physical association) | 0.400 |
| INF2 | PB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| INF2 | BDKRB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ALG3 | INF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| INF2 | UBE2R2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| INF2 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| MYH9 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| ANLN | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Calml3 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1CC | CLIC1 | psi-mi:“MI:0914”(association) | 0.350 |
| CFAP97 | CSNK2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| PPP1CB | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| GAK | PARP10 | psi-mi:“MI:0914”(association) | 0.350 |
| VWA8 | psi-mi:“MI:0914”(association) | 0.350 | |
| IPO5 | psi-mi:“MI:0914”(association) | 0.350 | |
| E6 | TRAFD1 | psi-mi:“MI:0914”(association) | 0.350 |
| PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SNAP23 | psi-mi:“MI:0914”(association) | 0.350 | |
| PPP1CA | ACO2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (360): INF2 (Affinity Capture-RNA), INF2 (Affinity Capture-RNA), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS), INF2 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2JV04, B0V207, D3Z8X7, D3ZFJ3, D3ZND0, F1LM81, G9CGD6, O00499, O08539, O08839, O12940, O60308, O60784, O75674, O88746, P42567, P55194, Q05DH4, Q0GNC1, Q0IHV1, Q27J81, Q3B7M3, Q3UN70, Q4KLN4, Q505K2, Q5FVK6, Q5T0F9, Q5U3K5, Q66HA5, Q68EF0, Q6P1N0, Q6P5E6, Q6P9Q4, Q6P9Q6, Q80V31, Q80V94, Q8BMI3, Q8BRN9, Q8K1A6, Q8R0H9
Diamond homologs: A0A3Q1LSX9, A2APV2, O23373, O95466, Q0D519, Q0GNC1, Q27J81, Q6H7U3, Q6MWG9, Q6NTV6, Q6NXC0, Q6ZPF4, Q8IVF7, Q94B77, Q96PY5, Q9JL26, Q9VUC6, A0A1D5P556, A3AB67, F1LVW7, F1M775, O04532, O08808, O60610, O60879, O70566, P48608, Q10059, Q54N00, Q54WH2, Q69MT2, Q9NSV4, Q9XIE0, Q9Z207, Q0IHV1, Q10Q99, Q3ULZ2, Q5TJ57, Q8BPM0, Q8H8K7
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SPOP | “down-regulates activity” | INF2 | binding |
| “Cullin 3-RBX1-Skp1” | “down-regulates quantity by destabilization” | INF2 | polyubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 111 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Sensory processing of sound | 5 | 18.2× | 9e-04 |
| RHOF GTPase cycle | 5 | 15.3× | 1e-03 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 7 | 12.7× | 5e-04 |
| RHOB GTPase cycle | 6 | 10.9× | 1e-03 |
| Signaling by ALK fusions and activated point mutants | 6 | 10.6× | 2e-03 |
| VEGFA-VEGFR2 Pathway | 6 | 9.8× | 2e-03 |
| Leishmania infection | 5 | 9.6× | 5e-03 |
| Sensory processing of sound by inner hair cells of the cochlea | 5 | 9.6× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| substantia nigra development | 5 | 18.5× | 2e-03 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 5 | 10.6× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1814 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 19 |
| Likely pathogenic | 29 |
| Uncertain significance | 667 |
| Likely benign | 687 |
| Benign | 123 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1050 | NM_022489.4(INF2):c.556T>C (p.Ser186Pro) | Pathogenic |
| 1054 | NM_022489.4(INF2):c.125T>C (p.Leu42Pro) | Pathogenic |
| 1344641 | NM_022489.4(INF2):c.542T>G (p.Val181Gly) | Pathogenic |
| 2575974 | NM_022489.4(INF2):c.158T>C (p.Leu53Pro) | Pathogenic |
| 30865 | NM_022489.4(INF2):c.311G>T (p.Cys104Phe) | Pathogenic |
| 30866 | NM_022489.4(INF2):c.312C>G (p.Cys104Trp) | Pathogenic |
| 30867 | NM_022489.4(INF2):c.383T>C (p.Leu128Pro) | Pathogenic |
| 30868 | NM_022489.4(INF2):c.395T>G (p.Leu132Arg) | Pathogenic |
| 472835 | NM_022489.4(INF2):c.314T>A (p.Val105Glu) | Pathogenic |
| 472837 | NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) | Pathogenic |
| 472868 | NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) | Pathogenic |
| 562407 | NM_022489.4(INF2):c.530G>A (p.Arg177His) | Pathogenic |
| 599128 | NM_022489.4(INF2):c.550G>A (p.Glu184Lys) | Pathogenic |
| 599131 | NM_022489.4(INF2):c.217G>A (p.Gly73Ser) | Pathogenic |
| 637700 | NM_022489.4(INF2):c.170T>C (p.Leu57Pro) | Pathogenic |
| 637704 | NM_022489.4(INF2):c.341G>A (p.Gly114Asp) | Pathogenic |
| 637707 | NM_022489.4(INF2):c.230T>C (p.Leu77Pro) | Pathogenic |
| 637711 | NM_022489.4(INF2):c.323T>A (p.Val108Asp) | Pathogenic |
| 829855 | NM_022489.4(INF2):c.254C>G (p.Ser85Trp) | Pathogenic |
| 1179196 | NM_022489.4(INF2):c.1735+1G>A | Likely pathogenic |
| 1184454 | NM_022489.4(INF2):c.485T>C (p.Leu162Pro) | Likely pathogenic |
| 1344668 | NM_022489.4(INF2):c.353T>A (p.Ile118Asn) | Likely pathogenic |
| 1344689 | NM_022489.4(INF2):c.532T>G (p.Phe178Val) | Likely pathogenic |
| 1518638 | NM_022489.4(INF2):c.470G>A (p.Gly157Asp) | Likely pathogenic |
| 1697256 | NM_022489.4(INF2):c.605A>G (p.Asn202Ser) | Likely pathogenic |
| 1712412 | NM_022489.4(INF2):c.451T>C (p.Cys151Arg) | Likely pathogenic |
| 2572531 | NM_022489.4(INF2):c.604A>G (p.Asn202Asp) | Likely pathogenic |
| 2574145 | NM_022489.4(INF2):c.286del (p.Leu96fs) | Likely pathogenic |
| 3031506 | NM_022489.4(INF2):c.698T>C (p.Leu233Pro) | Likely pathogenic |
| 3066232 | NM_022489.4(INF2):c.315_323del (p.Arg106_Val108del) | Likely pathogenic |
SpliceAI
3723 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:104689738:GG:G | donor_gain | 1.0000 |
| 14:104689739:GG:G | donor_gain | 1.0000 |
| 14:104689740:G:C | donor_loss | 1.0000 |
| 14:104689741:T:G | donor_loss | 1.0000 |
| 14:104701732:GGC:G | donor_gain | 1.0000 |
| 14:104701733:GC:G | donor_gain | 1.0000 |
| 14:104701734:C:G | donor_gain | 1.0000 |
| 14:104701755:GG:G | donor_gain | 1.0000 |
| 14:104701756:GG:G | donor_gain | 1.0000 |
| 14:104701757:GT:G | donor_loss | 1.0000 |
| 14:104703099:T:TA | acceptor_gain | 1.0000 |
| 14:104703102:CAG:C | acceptor_loss | 1.0000 |
| 14:104703103:A:AG | acceptor_gain | 1.0000 |
| 14:104703104:G:GA | acceptor_gain | 1.0000 |
| 14:104703104:GC:G | acceptor_gain | 1.0000 |
| 14:104703292:CA:C | acceptor_loss | 1.0000 |
| 14:104703293:A:AG | acceptor_gain | 1.0000 |
| 14:104703293:AGAC:A | acceptor_gain | 1.0000 |
| 14:104703293:AGACG:A | acceptor_gain | 1.0000 |
| 14:104703294:G:GA | acceptor_gain | 1.0000 |
| 14:104703294:GA:G | acceptor_gain | 1.0000 |
| 14:104703294:GAC:G | acceptor_gain | 1.0000 |
| 14:104703294:GACG:G | acceptor_gain | 1.0000 |
| 14:104703294:GACGG:G | acceptor_gain | 1.0000 |
| 14:104703450:TATCG:T | donor_gain | 1.0000 |
| 14:104703451:ATCG:A | donor_gain | 1.0000 |
| 14:104703451:ATCGG:A | donor_loss | 1.0000 |
| 14:104703452:TCG:T | donor_gain | 1.0000 |
| 14:104703452:TCGG:T | donor_loss | 1.0000 |
| 14:104703453:CG:C | donor_gain | 1.0000 |
AlphaMissense
8049 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:104701568:T:C | F68S | 0.999 |
| 14:104707972:T:A | W569R | 0.999 |
| 14:104707972:T:C | W569R | 0.999 |
| 14:104707974:G:C | W569C | 0.999 |
| 14:104707974:G:T | W569C | 0.999 |
| 14:104711107:T:C | F780S | 0.999 |
| 14:104701513:T:G | Y50D | 0.998 |
| 14:104701523:T:C | L53P | 0.998 |
| 14:104701535:T:C | L57P | 0.998 |
| 14:104701567:T:C | F68L | 0.998 |
| 14:104701569:C:A | F68L | 0.998 |
| 14:104701569:C:G | F68L | 0.998 |
| 14:104701661:T:C | L99P | 0.998 |
| 14:104701675:T:C | C104R | 0.998 |
| 14:104701677:C:G | C104W | 0.998 |
| 14:104701688:T:A | V108D | 0.998 |
| 14:104703150:T:C | L146P | 0.998 |
| 14:104703440:G:C | R218P | 0.998 |
| 14:104708450:T:A | W584R | 0.998 |
| 14:104708450:T:C | W584R | 0.998 |
| 14:104708705:T:C | L641P | 0.998 |
| 14:104708711:T:C | I643T | 0.998 |
| 14:104711106:T:C | F780L | 0.998 |
| 14:104711108:C:A | F780L | 0.998 |
| 14:104711108:C:G | F780L | 0.998 |
| 14:104701487:T:C | L41P | 0.997 |
| 14:104701555:T:A | W64R | 0.997 |
| 14:104701555:T:C | W64R | 0.997 |
| 14:104701583:G:A | G73D | 0.997 |
| 14:104701595:T:C | L77P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000152681 (14:104704210 C>G,T), RS1000159404 (14:104709882 C>G,T), RS1000178115 (14:104702543 G>A,C), RS1000211047 (14:104709692 C>T), RS1000222136 (14:104704837 A>G), RS1000239808 (14:104716937 C>T), RS1000302404 (14:104717856 C>G,T), RS1000319088 (14:104713191 A>G), RS1000351709 (14:104713048 C>G,T), RS1000404109 (14:104700347 C>T), RS1000410741 (14:104700105 G>A), RS1000430163 (14:104714039 G>C), RS1000494955 (14:104710708 G>A), RS1000600875 (14:104720984 C>T), RS1000611186 (14:104705660 A>C)
Disease associations
OMIM: gene MIM:610982 | disease phenotypes: MIM:613237, MIM:614455, MIM:601894, MIM:118220, MIM:616505
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Charcot-Marie-Tooth disease dominant intermediate E | Definitive | Autosomal dominant |
| focal segmental glomerulosclerosis 5 | Strong | Autosomal dominant |
| familial idiopathic steroid-resistant nephrotic syndrome | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Charcot-Marie-Tooth disease dominant intermediate E | Definitive | AD |
Mondo (16): focal segmental glomerulosclerosis 5 (MONDO:0013191), Charcot-Marie-Tooth disease dominant intermediate E (MONDO:0013758), kidney disorder (MONDO:0005240), focal segmental glomerulosclerosis (MONDO:0100313), glomerulonephritis (MONDO:0002462), nephrotic syndrome (MONDO:0005377), proteinuria (MONDO:0003634), chronic kidney disease (MONDO:0005300), glomerulopathy with fibronectin deposits 2 (MONDO:0011165), Charcot-Marie-Tooth disease (MONDO:0015626), neuropathy, hereditary motor and sensory, type 6B (MONDO:0014671), periodic fever syndrome (MONDO:0015137), motor peripheral neuropathy (MONDO:0002316), oligohydramnios (MONDO:0005881), hypertensive disorder (MONDO:0005044)
Orphanet (5): Hereditary steroid-resistant nephrotic syndrome (Orphanet:656), Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (Orphanet:93114), Fibronectin glomerulopathy (Orphanet:84090), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), Periodic fever syndrome (Orphanet:101995)
HPO phenotypes
40 total (30 of 40 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000093 | Proteinuria |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000737 | Irritability |
| HP:0000822 | Hypertension |
| HP:0000969 | Edema |
| HP:0001265 | Hyporeflexia |
| HP:0001284 | Areflexia |
| HP:0001761 | Pes cavus |
| HP:0001765 | Hammertoe |
| HP:0001945 | Fever |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0002027 | Abdominal pain |
| HP:0002315 | Headache |
| HP:0002460 | Distal muscle weakness |
| HP:0002586 | Peritonitis |
| HP:0002907 | Microscopic hematuria |
| HP:0002936 | Distal sensory impairment |
| HP:0003073 | Hypoalbuminemia |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003376 | Steppage gait |
| HP:0003383 | Onion bulb formation |
| HP:0003447 | Axonal loss |
| HP:0003581 | Adult onset |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0007149 | Distal upper limb amyotrophy |
GWAS associations
0 associations (top):
MeSH disease descriptors (10)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002607 | Charcot-Marie-Tooth Disease | C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200 |
| D005921 | Glomerulonephritis | C12.050.351.968.419.570.363; C12.200.777.419.570.363; C12.950.419.570.363 |
| D005923 | Glomerulosclerosis, Focal Segmental | C12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640 |
| D006973 | Hypertension | C14.907.489 |
| D007674 | Kidney Diseases | C12.050.351.968.419; C12.200.777.419; C12.950.419 |
| D007676 | Kidney Failure, Chronic | C12.050.351.968.419.780.750.500; C12.200.777.419.780.750.500; C12.950.419.780.750.500; C23.550.291.500.906.500 |
| D009404 | Nephrotic Syndrome | C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643 |
| D016104 | Oligohydramnios | C12.050.703.560 |
| D011507 | Proteinuria | C12.050.351.968.934.734; C12.200.777.934.734; C12.950.934.734; C23.888.942.750 |
| C567687 | Focal Segmental Glomerulosclerosis 5 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067424 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.94 | Kd | 114.6 | nM | CHEMBL5653589 |
| 6.94 | ED50 | 114.6 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148591: Binding affinity to human INF2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.1146 | uM |
CTD chemical–gene interactions
63 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| Benzo(a)pyrene | increases mutagenesis, affects methylation, increases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 3 |
| bisphenol F | increases expression, affects cotreatment, decreases expression | 2 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| bisphenol S | decreases expression, affects expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| afuresertib | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| nivalenol | increases expression | 1 |
| pentanal | increases expression | 1 |
| avobenzone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651633 | Binding | Binding affinity to human INF2 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1UJ | Abcam HeLa INF2 KO | Cancer cell line | Female |
| CVCL_SS58 | HAP1 INF2 (-) 1 | Cancer cell line | Male |
| CVCL_SS59 | HAP1 INF2 (-) 2 | Cancer cell line | Male |
| CVCL_SS60 | HAP1 INF2 (-) 3 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00067990 | PHASE4 | COMPLETED | Angiotensin II Blockade for Chronic Allograft Nephropathy |
| NCT00117078 | PHASE4 | COMPLETED | Aranesp® Monthly Preference Study - 2 |
| NCT00117130 | PHASE4 | COMPLETED | Study to Evaluate Effectiveness of Aranesp® |
| NCT00132431 | PHASE4 | COMPLETED | START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism |
| NCT00140985 | PHASE4 | COMPLETED | Antiproteinuric Efficacy of Losartan Potassium in Patients With Non-Diabetic Proteinuric Renal Diseases (0954-213) |
| NCT00246129 | PHASE4 | COMPLETED | CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation |
| NCT00275535 | PHASE4 | COMPLETED | The Comparison of Tacrolimus and Sirolimus Immunosuppression Based Drug Regimens in Kidney Transplant Recipients |
| NCT00282217 | PHASE4 | COMPLETED | Study Evaluating Sirolimus in the Treatment of Kidney Transplant |
| NCT00289614 | PHASE4 | COMPLETED | Patients With Renal Impairment and Diabetes Undergoing Computed Tomography (CT) |
| NCT00290069 | PHASE4 | UNKNOWN | Renal Function Optimization With Mycophenolate Mofetil (MMF) Immunosuppressor Regimes (ALHAMBRA) |
| NCT00338468 | PHASE4 | TERMINATED | A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa) |
| NCT00368901 | PHASE4 | COMPLETED | STAAR-2 Clinical Study |
| NCT00369733 | PHASE4 | COMPLETED | STAAR-3 Clinical Study |
| NCT00369772 | PHASE4 | COMPLETED | STAAR-1 Clinical Study |
| NCT00379899 | PHASE4 | COMPLETED | ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis |
| NCT00443508 | PHASE4 | UNKNOWN | Reduction or Discontinuation of CNI’s With Conversion to Everolimus-Based Immunosuppresion |
| NCT00452478 | PHASE4 | TERMINATED | Conversion From Standard Phosphate Binder Therapy to Fosrenol® (Lanthanum Carbonate) in Chronic Kidney Disease Stage 5 |
| NCT00492518 | PHASE4 | COMPLETED | Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy |
| NCT00505102 | PHASE4 | UNKNOWN | Safe Renal Function In Long Term Heart Transplanted Patients |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00688480 | PHASE4 | COMPLETED | Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction? |
| NCT00863707 | PHASE4 | COMPLETED | A Study of the Safety and Tolerance of Regadenoson in Subjects With Renal Impairment |
| NCT01101698 | PHASE4 | UNKNOWN | Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients |
| NCT01150201 | PHASE4 | COMPLETED | Aliskiren Combined With Losartan in Proteinuric, Non-diabetic Chronic Kidney Disease |
| NCT01155141 | PHASE4 | COMPLETED | Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH |
| NCT01228279 | PHASE4 | COMPLETED | Sympathetic Activity in Patients With End-stage Renal Disease on Peritoneal Dialysis |
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Related Atlas pages
- Associated diseases: Charcot-Marie-Tooth disease dominant intermediate E, focal segmental glomerulosclerosis 5, familial idiopathic steroid-resistant nephrotic syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate E, familial idiopathic steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, focal segmental glomerulosclerosis 5, glomerulonephritis, glomerulopathy with fibronectin deposits 2, kidney disorder, motor peripheral neuropathy, nephrotic syndrome, neuropathy, hereditary motor and sensory, type 6B, oligohydramnios, periodic fever syndrome, proteinuria