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Aliases for INF2 Gene

Aliases for INF2 Gene

  • Inverted Formin, FH2 And WH2 Domain Containing 2 3 5
  • HBEBP2-Binding Protein C 3 4
  • C14orf151 3 4
  • C14orf173 3 4
  • HBEAG-Binding Protein 2 Binding Protein C 3
  • Chromosome 14 Open Reading Frame 151 2
  • Chromosome 14 Open Reading Frame 173 2
  • Inverted Formin-2 3
  • Inverted Formin 2 2
  • CMTDIE 3
  • Pp9484 3
  • FSGS5 3

External Ids for INF2 Gene

Previous HGNC Symbols for INF2 Gene

  • C14orf151
  • C14orf173

Previous GeneCards Identifiers for INF2 Gene

  • GC14P104245
  • GC14P105155
  • GC14P085353

Summaries for INF2 Gene

Entrez Gene Summary for INF2 Gene

  • 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]

GeneCards Summary for INF2 Gene

INF2 (Inverted Formin, FH2 And WH2 Domain Containing) is a Protein Coding gene. Diseases associated with INF2 include Charcot-Marie-Tooth Disease, Dominant Intermediate E and Focal Segmental Glomerulosclerosis 5. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS. Gene Ontology (GO) annotations related to this gene include binding and Rho GTPase binding. An important paralog of this gene is DIAPH1.

UniProtKB/Swiss-Prot for INF2 Gene

  • Severs actin filaments and accelerates their polymerization and depolymerization.

Gene Wiki entry for INF2 Gene

Additional gene information for INF2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INF2 Gene

Genomics for INF2 Gene

GeneHancer (GH) Regulatory Elements for INF2 Gene

Promoters and enhancers for INF2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J104686 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 659.1 0.0 -2 6.4 FOXA2 MLX ARID4B NEUROD1 SIN3A YBX1 DMAP1 ZBTB7B YY1 ZNF207 INF2 ENSG00000258858 AKT1 ADSSL1 ENSG00000256050 GC14M104689
GH14J104665 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.3 -23.1 -23096 2.9 HDGF FOXA2 YBX1 DMAP1 ZBTB7B ZNF207 FOS SP5 ZHX2 ZNF662 LINC02280 MTA1 XRCC3 ENSG00000257270 CDCA4 LINC00638 BRF1 ENSG00000270591 TMEM121 RPS20P33
GH14J104721 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 6.4 +34.3 34270 4.6 ATF1 ARID4B SIN3A ZNF2 ZBTB7B ZNF48 YY1 GLIS2 ZNF213 ZNF143 ADSSL1 AKT1 INF2 GC14M104689
GH14J104696 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.1 +9.4 9367 4.1 PKNOX1 ATF1 ARNT TCF12 GATA2 ZNF143 ZFP91 ATF7 ZNF263 NCOA1 XRCC3 ADSSL1 MTA1 ENSG00000257270 SIVA1 INF2 AKT1 C14orf180 GC14M104689 ENSG00000258858
GH14J104676 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 5 -9.3 -9282 7.6 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 ZNF766 ENSG00000256050 XRCC3 MTA1 ENSG00000257270 RPS20P33 GPR132 ENSG00000270108 PACS2 INF2 AKT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the INF2 gene promoter:
  • RelA
  • NF-kappaB1
  • NF-kappaB
  • NF-Y
  • CBF(2)
  • NRF-2
  • HEN1
  • Evi-1
  • NCX
  • HFH-1

Genomic Locations for INF2 Gene

Genomic Locations for INF2 Gene
32,930 bases
Plus strand
30,005 bases
Plus strand

Genomic View for INF2 Gene

Genes around INF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INF2 Gene

Proteins for INF2 Gene

  • Protein details for INF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Inverted formin-2
    Protein Accession:
    Secondary Accessions:
    • Q27J83
    • Q69YL8
    • Q6P1X7
    • Q6PK22
    • Q86TR7
    • Q9BRM1
    • Q9H6N1

    Protein attributes for INF2 Gene

    1249 amino acids
    Molecular mass:
    135624 Da
    Quaternary structure:
    • Interacts with actin at the FH2 domain.
    • Sequence=AAH08756.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH64828.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=ABD59343.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=ABD59344.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=ABD59345.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15224.1; Type=Erroneous termination; Positions=636, 759; Note=Translated as Lys, Gln.; Evidence={ECO:0000305}; Sequence=EAW81872.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for INF2 Gene


neXtProt entry for INF2 Gene

Post-translational modifications for INF2 Gene

  • Ubiquitination at Lys682, isoforms=2673, and Lys571
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for INF2 Gene

Domains & Families for INF2 Gene

Gene Families for INF2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for INF2 Gene

Suggested Antigen Peptide Sequences for INF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The WH2 domain acts as the DAD (diaphanous autoregulatory) domain and binds to actin monomers.
  • Belongs to the formin homology family.
  • 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.
  • Belongs to the formin homology family.
genes like me logo Genes that share domains with INF2: view

Function for INF2 Gene

Molecular function for INF2 Gene

UniProtKB/Swiss-Prot Function:
Severs actin filaments and accelerates their polymerization and depolymerization.
UniProtKB/Swiss-Prot EnzymeRegulation:
Phosphate inhibits both the depolymerization and severing activities.

Gene Ontology (GO) - Molecular Function for INF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005488 binding IEA --
GO:0017048 Rho GTPase binding IEA --
genes like me logo Genes that share ontologies with INF2: view
genes like me logo Genes that share phenotypes with INF2: view

Human Phenotype Ontology for INF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for INF2 Gene

MGI Knock Outs for INF2:
  • Inf2 Inf2<tm1.1(KOMP)Vlcg>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for INF2 Gene

Localization for INF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INF2 Gene

Cytoplasm, perinuclear region.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INF2 gene
Compartment Confidence
endoplasmic reticulum 3
cytosol 3
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for INF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0048471 perinuclear region of cytoplasm IDA,IEA 20023659
genes like me logo Genes that share ontologies with INF2: view

Pathways & Interactions for INF2 Gene

genes like me logo Genes that share pathways with INF2: view

Pathways by source for INF2 Gene

1 BioSystems pathway for INF2 Gene

Gene Ontology (GO) - Biological Process for INF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016043 cellular component organization IEA --
GO:0030036 actin cytoskeleton organization IEA --
GO:0090140 regulation of mitochondrial fission IMP 23349293
genes like me logo Genes that share ontologies with INF2: view

No data available for SIGNOR curated interactions for INF2 Gene

Drugs & Compounds for INF2 Gene

No Compound Related Data Available

Transcripts for INF2 Gene

Unigene Clusters for INF2 Gene

Inverted formin, FH2 and WH2 domain containing:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for INF2 Gene

No ASD Table

Relevant External Links for INF2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for INF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for INF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for INF2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (29.4) and Bone (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for INF2 Gene

Protein tissue co-expression partners for INF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of INF2 Gene:


SOURCE GeneReport for Unigene cluster for INF2 Gene:


mRNA Expression by UniProt/SwissProt for INF2 Gene:

Tissue specificity: Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells.

Evidence on tissue expression from TISSUES for INF2 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Eye(4.4)
  • Kidney(2.2)
  • Blood(2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for INF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • head
  • lung
  • kidney
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with INF2: view

No data available for mRNA differential expression in normal tissues for INF2 Gene

Orthologs for INF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for INF2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia INF2 34 33
  • 98.98 (n)
(Canis familiaris)
Mammalia INF2 34 33
  • 82.52 (n)
(Bos Taurus)
Mammalia INF2 34 33
  • 81.53 (n)
(Mus musculus)
Mammalia Inf2 16 34 33
  • 80.75 (n)
(Rattus norvegicus)
Mammalia Inf2 33
  • 76.21 (n)
(Ornithorhynchus anatinus)
Mammalia INF2 34
  • 67 (a)
(Monodelphis domestica)
Mammalia INF2 34
  • 62 (a)
(Gallus gallus)
Aves INF2 34 33
  • 61.78 (n)
(Anolis carolinensis)
Reptilia INF2 34
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14810 33
(Danio rerio)
Actinopterygii INF2 34
  • 55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
Species where no ortholog for INF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for INF2 Gene

Gene Tree for INF2 (if available)
Gene Tree for INF2 (if available)
Evolutionary constrained regions (ECRs) for INF2: view image

Paralogs for INF2 Gene

Paralogs for INF2 Gene

genes like me logo Genes that share paralogs with INF2: view

Variants for INF2 Gene

Sequence variations from dbSNP and Humsavar for INF2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs10133301 benign, not specified, Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis 5 104,712,857(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs1024394429 uncertain-significance, Focal segmental glomerulosclerosis 104,719,025(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1054490426 uncertain-significance, Focal segmental glomerulosclerosis 104,719,608(+) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs111978619 likely-benign, Focal segmental glomerulosclerosis 104,719,337(+) G/A/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1128840 benign, not specified, Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis 5 104,714,369(+) A/C/G coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for INF2 Gene

Variant ID Type Subtype PubMed ID
dgv265n27 CNV loss 19166990
dgv266n27 CNV loss 19166990
dgv3952n54 CNV loss 21841781
dgv3953n54 CNV gain 21841781
dgv3954n54 CNV loss 21841781
dgv3955n54 CNV loss 21841781
dgv3956n54 CNV loss 21841781
esv3635623 CNV gain 21293372
nsv1054574 CNV loss 25217958
nsv1118301 CNV deletion 24896259
nsv1437 CNV insertion 18451855
nsv456445 CNV loss 19166990
nsv456455 CNV loss 19166990
nsv470677 CNV loss 18288195
nsv470678 CNV gain 18288195
nsv517038 CNV loss 19592680
nsv566047 CNV loss 21841781
nsv566048 CNV gain 21841781
nsv566051 CNV gain+loss 21841781
nsv566057 CNV gain+loss 21841781
nsv566058 CNV gain 21841781
nsv566062 CNV gain+loss 21841781
nsv566064 CNV loss 21841781
nsv566069 CNV loss 21841781
nsv820230 CNV gain 19587683
nsv952271 CNV deletion 24416366

Variation tolerance for INF2 Gene

Residual Variation Intolerance Score: 78.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.54; 86.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INF2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INF2 Gene

Disorders for INF2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for INF2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search INF2 in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:20023659, ECO:0000269 PubMed:21258034, ECO:0000269 PubMed:21866090, ECO:0000269 PubMed:22971997, ECO:0000269 PubMed:23014460, ECO:0000269 PubMed:25165188}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease, dominant, intermediate type, 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. {ECO:0000269 PubMed:22187985, ECO:0000269 PubMed:24174593, ECO:0000269 PubMed:24750328, ECO:0000269 PubMed:25165188, ECO:0000269 PubMed:25676889}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for INF2

genes like me logo Genes that share disorders with INF2: view

No data available for Genatlas for INF2 Gene

Publications for INF2 Gene

  1. Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy. (PMID: 25165188) Caridi G … Ghiggeri GM (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2014) 3 4 58
  2. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis. (PMID: 22971997) Sanchez-Ares M … Garcia-Gonzalez MA (Kidney international 2013) 3 4 58
  3. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. (PMID: 23014460) Barua M … Pollak MR (Kidney international 2013) 3 4 58
  4. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. (PMID: 24174593) Mademan I … Baets J (Neurology 2013) 3 4 58
  5. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. (PMID: 21866090) Gbadegesin RA … Winn MP (Kidney international 2012) 3 4 58

Products for INF2 Gene

Sources for INF2 Gene

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