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Aliases for INF2 Gene

Aliases for INF2 Gene

  • Inverted Formin, FH2 And WH2 Domain Containing 2 3
  • C14orf173 3 4 6
  • HBEBP2-Binding Protein C 3 4
  • C14orf151 3 4
  • CMTDIE 3 6
  • FSGS5 3 6
  • 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
  • Inverted Formin-2 3
  • Pp9484 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 glomerulosclerosis, focal segmental, 5. GO annotations related to this gene include actin binding and Rho GTPase binding. An important paralog of this gene is FMN2.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for INF2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys566, Lys571, Lys673, and Lys682
  • Modification sites at PhosphoSitePlus

Other Protein References for INF2 Gene

No data available for DME Specific Peptides for INF2 Gene

Domains 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 :
  • Q27J81
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:0003779 actin binding IEA --
GO:0005488 binding --
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

Animal Model Products

CRISPR Products

miRNA for INF2 Gene

miRTarBase miRNAs that target INF2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
endoplasmic reticulum 4
nucleus 4
cytosol 3
cytoskeleton 2
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for INF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IDA --
GO:0048471 perinuclear region of cytoplasm IDA 20023659
genes like me logo Genes that share ontologies with INF2: view

Pathways for INF2 Gene

SuperPathways for INF2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for INF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0016043 cellular component organization --
GO:0030036 actin cytoskeleton organization IEA --
GO:0032535 regulation of cellular component size IEA --
GO:0090140 regulation of mitochondrial fission IMP 23349293
genes like me logo Genes that share ontologies with INF2: view

No data available for Pathways by source for INF2 Gene

Transcripts for INF2 Gene

Unigene Clusters for INF2 Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for INF2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for INF2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with INF2: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia INF2 35
  • 98.98 (n)
  • 99.24 (a)
INF2 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia INF2 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INF2 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Inf2 35
  • 76.21 (n)
  • 74.79 (a)
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

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 MAF
rs1128840 -- 104,714,369(+) GGTCC(A/C/G)CGGCC reference, synonymous-codon
rs1128866 -- 104,719,230(+) GCCCT(A/G)GGCAG utr-variant-3-prime
rs1128880 -- 104,719,329(+) GGAGT(G/T)GGGGG utr-variant-3-prime
rs3803311 - 104,714,566(-) AGGAC(A/G)TGGGA reference, missense
rs3809455 -- 104,707,494(-) GGCTG(A/C)GAAAC reference, synonymous-codon

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

Relevant External Links for INF2 Gene

HapMap Linkage Disequilibrium report
INF2
Human Gene Mutation Database (HGMD)
INF2

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

Disorders for INF2 Gene

(2) OMIM Diseases for INF2 Gene (610982)

UniProtKB/Swiss-Prot

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

(1) University of Copenhagen DISEASES for INF2 Gene

Relevant External Links for INF2

Human Genome Epidemiology (HuGE) Navigator
INF2
genes like me logo Genes that share disorders with INF2: view

Publications for INF2 Gene

  1. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. (PMID: 20023659) Brown E.J. … Pollak M.R. (Nat. Genet. 2010) 3 4
  2. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. (PMID: 21866090) Gbadegesin R.A. … Winn M.P. (Kidney Int. 2012) 3 4
  3. 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 M.A. (Kidney Int. 2013) 3 4
  4. 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
  5. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. (PMID: 21258034) Boyer O. … Antignac C. (J. Am. Soc. Nephrol. 2011) 3 4

Products for INF2 Gene

Sources for INF2 Gene

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