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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 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 Glomerulosclerosis, Focal Segmental, 5 and Charcot-Marie-Tooth Disease, Dominant Intermediate E. GO annotations related to this gene include binding and Rho GTPase binding. An important paralog of this gene is FMNL2.

UniProtKB/Swiss-Prot for INF2 Gene

  • Severs actin filaments and accelerates their polymerization and depolymerization.

Gene Wiki entry for INF2 Gene

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

Genomics for INF2 Gene

Regulatory Elements for INF2 Gene

Enhancers for INF2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around INF2 on UCSC Golden Path with GeneCards custom track

Promoters for INF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around INF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for INF2 Gene

Chromosome:
14
Start:
104,689,606 bp from pter
End:
104,722,535 bp from pter
Size:
32,930 bases
Orientation:
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:
    Q27J81-INF2_HUMAN
    Recommended name:
    Inverted formin-2
    Protein Accession:
    Q27J81
    Secondary Accessions:
    • Q27J83
    • Q69YL8
    • Q6P1X7
    • Q6PK22
    • Q86TR7
    • Q9BRM1
    • Q9H6N1

    Protein attributes for INF2 Gene

    Size:
    1249 amino acids
    Molecular mass:
    135624 Da
    Quaternary structure:
    • Interacts with actin at the FH2 domain.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for INF2 Gene

Proteomics data for INF2 Gene at MOPED

Post-translational modifications for INF2 Gene

  • Ubiquitination at Lys 571, Lys 673, and Lys 682
  • Modification sites at PhosphoSitePlus

Other Protein References for INF2 Gene

No data available for DME Specific Peptides for INF2 Gene

Domains & Families for INF2 Gene

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

Q27J81

UniProtKB/Swiss-Prot:

INF2_HUMAN :
  • The WH2 domain acts as the DAD (diaphanous autoregulatory) domain and binds to actin monomers.
  • Belongs to the formin homology family.
Domain:
  • 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.
  • Contains 1 FH2 (formin homology 2) domain.
  • Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
  • Contains 1 WH2 domain.
Family:
  • Belongs to the formin homology family.
genes like me logo Genes that share domains with INF2: view

No data available for Gene Families for INF2 Gene

Function for INF2 Gene

Molecular function for INF2 Gene

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

Gene Ontology (GO) - Molecular Function for INF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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

COMPARTMENTS
Jensen Localization Image for INF2 Gene COMPARTMENTS Subcellular localization image for INF2 gene
Compartment Confidence
cytosol 3
endoplasmic reticulum 3
cytoskeleton 2
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for INF2 Gene

Pathways & Interactions for INF2 Gene

SuperPathways for INF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for INF2 Gene

None

No data available for Pathways by source and 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:

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

No ASD Table

Relevant External Links for INF2 Gene

GeneLoc Exon Structure for
INF2
ECgene alternative splicing isoforms for
INF2

Expression for INF2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for INF2 Gene



SOURCE GeneReport for Unigene cluster for INF2 Gene Hs.24956

mRNA Expression by UniProt/SwissProt for INF2 Gene

Q27J81-INF2_HUMAN
Tissue specificity: Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells.
genes like me logo Genes that share expression patterns with INF2: view

Protein tissue co-expression partners for INF2 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia INF2 35
  • 81.53 (n)
  • 76.85 (a)
INF2 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia INF2 35
  • 82.52 (n)
  • 78.05 (a)
INF2 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Inf2 35
  • 80.75 (n)
  • 80.17 (a)
Inf2 16
Inf2 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia INF2 35
  • 98.98 (n)
  • 99.24 (a)
INF2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Inf2 35
  • 76.21 (n)
  • 74.79 (a)
oppossum
(Monodelphis domestica)
Mammalia INF2 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INF2 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves INF2 35
  • 61.78 (n)
  • 61.41 (a)
INF2 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INF2 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14810 35
zebrafish
(Danio rerio)
Actinopterygii INF2 36
  • 55 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for INF2:
  • 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

ENSEMBL:
Gene Tree for INF2 (if available)
TreeFam:
Gene Tree for INF2 (if available)

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 Sequence Context AA Info Type
rs34251364 - 104,714,448(+) CCCAG(C/T)CCTTG nc-transcript-variant, reference, missense
rs3803311 - 104,714,566(-) AGGAC(A/G)TGGGA nc-transcript-variant, reference, missense
VAR_063075 Focal segmental glomerulosclerosis 5 (FSGS5)
VAR_063076 Focal segmental glomerulosclerosis 5 (FSGS5)
VAR_063077 Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)

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

Variant ID Type Subtype PubMed ID
nsv902372 CNV Loss 21882294
nsv456445 CNV Loss 19166990
dgv2008n71 CNV Loss 21882294
dgv2009n71 CNV Loss 21882294
dgv2010n71 CNV Loss 21882294
nsv902389 CNV Loss 21882294
dgv2011n71 CNV Loss 21882294
dgv265n27 CNV Loss 19166990
nsv470678 CNV Gain 18288195
nsv470677 CNV Loss 18288195
dgv2012n71 CNV Loss 21882294
dgv2013n71 CNV Loss 21882294
nsv517038 CNV Loss 19592680
dgv2014n71 CNV Loss 21882294
nsv820230 CNV Gain 19587683
dgv2015n71 CNV Loss 21882294
dgv266n27 CNV Loss 19166990
nsv456455 CNV Loss 19166990
nsv902407 CNV Gain 21882294
nsv902410 CNV Loss 21882294
nsv1437 CNV Insertion 18451855

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)

Relevant External Links for INF2 Gene

Human Gene Mutation Database (HGMD)
INF2

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

Disorders for INF2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for INF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glomerulosclerosis, focal segmental, 5
  • focal segmental glomerulosclerosis 5
charcot-marie-tooth disease, dominant intermediate e
  • charcot-marie-tooth neuropathy with focal segmental glomerulonephritis
autosomal dominant intermediate charcot-marie-tooth disease type e
  • charcot-marie-tooth disease, dominant intermediate e
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
charcot-marie-tooth neuropathy dominant intermediate e
  • charcot-marie-tooth neuropathy with focal segmental glomerulonephritis
- elite association - COSMIC cancer census association via MalaCards
Search INF2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

INF2_HUMAN
  • 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.
  • 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:25165188}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for INF2

Human Genome Epidemiology (HuGE) Navigator
INF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 G.M. (Nephrol. Dial. Transplant. 2014) 3 4 67
  2. INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. (PMID: 16818491) Chhabra E.S. … Higgs H.N. (J. Biol. Chem. 2006) 2 3
  3. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3
  4. Assembly and turnover of short actin filaments by the formin INF2 and profilin. (PMID: 26124273) Gurel P.S. … Higgs H.N. (J. Biol. Chem. 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for INF2 Gene

Sources for INF2 Gene

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