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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
  • Inverted Formin-2 3
  • 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 Glomerulosclerosis, Focal Segmental, 5. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS. 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

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G104665 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.3 -23.1 -23096 2.9 HDGF YBX1 DMAP1 ZBTB7B ZNF302 ZNF207 FOS SP5 ZHX2 ZNF662 ENSG00000257270 XRCC3 TMEM121 RPS20P33 ENSG00000269940 PACS2 LINC00638 ENSG00000256050 INF2 TMEM179
GH14G104696 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.1 +9.4 9368 4.1 PKNOX1 ATF1 ARNT AGO1 TCF12 GLIS2 GATA2 ZNF263 SP3 NCOA1 ADSSL1 SIVA1 INF2 AKT1 C14orf180 GC14M104689 ENSG00000258858
GH14G104686 1.6 FANTOM5 ENCODE dbSUPER 9.1 0.0 -2 6.4 FOXA2 MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 ZBTB7B YY1 ZNF207 INF2 AKT1 ADSSL1 ENSG00000256050
GH14G104694 1.3 Ensembl ENCODE dbSUPER 8.9 +5.6 5558 2.4 MAX ZMYM3 BCL11B ETS1 HIC1 ZFHX2 GLIS2 POLR2A PATZ1 EGR2 AKT1 INF2 ENSG00000258858 GC14M104689
GH14G104709 1.1 ENCODE dbSUPER 8.5 +19.3 19265 1.6 AGO1 RAD21 GLIS2 SCRT2 ZNF143 FOS PCBP1 PAF1 ZNF654 ZEB2 ENSG00000256050 SIVA1 C14orf79 LINC00638 ENSG00000257270 INF2 GC14M104689 LOC388022
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000073701 294 1401 ZFP64 ARID4B SIN3A DMAP1 GLIS2 ZNF207 SP3 SP5 REST PPARG

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

Post-translational modifications for INF2 Gene

  • Ubiquitination at posLast=571571, isoforms=2673, and isoforms=2682
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for INF2 Gene

Domains & Families 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.
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: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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
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
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1

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

Transcripts for INF2 Gene

Unigene Clusters for INF2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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 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, PaxDb, and MOPED for INF2 Gene



Protein tissue co-expression partners for INF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of INF2 Gene:

INF2

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.

Evidence on tissue expression from TISSUES for INF2 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Eye(4.4)
  • Kidney(2.1)
  • Heart(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • head
Thorax:
  • lung
Abdomen:
  • kidney
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • 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

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
chimpanzee
(Pan troglodytes)
Mammalia INF2 34 35
  • 98.98 (n)
dog
(Canis familiaris)
Mammalia INF2 34 35
  • 82.52 (n)
cow
(Bos Taurus)
Mammalia INF2 34 35
  • 81.53 (n)
mouse
(Mus musculus)
Mammalia Inf2 34 16 35
  • 80.75 (n)
rat
(Rattus norvegicus)
Mammalia Inf2 34
  • 76.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia INF2 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INF2 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves INF2 34 35
  • 61.78 (n)
lizard
(Anolis carolinensis)
Reptilia INF2 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.14810 34
zebrafish
(Danio rerio)
Actinopterygii INF2 35
  • 55 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
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

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
rs201383094 Likely benign, Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] 104,701,402(+) GGGCA(A/G)CGCTG nc-transcript-variant, reference, missense
rs267606877 Pathogenic, Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] 104,703,343(+) AGCTC(C/T)CCGGC nc-transcript-variant, reference, missense
rs267606878 Pathogenic, Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] 104,703,439(+) AGCTG(C/T)GGAAC nc-transcript-variant, reference, missense
rs267606879 Pathogenic, Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] 104,703,428(+) CGCGC(A/G)CACCC nc-transcript-variant, reference, missense
rs267606880 Pathogenic, Focal segmental glomerulosclerosis 5 (FSGS5) [MIM:613237] 104,701,490(+) GCTGC(C/T)CCAGA nc-transcript-variant, reference, missense

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)

Relevant External Links for INF2 Gene

Human Gene Mutation Database (HGMD)
INF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INF2

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

Disorders for INF2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, dominant intermediate e
  • charcot-marie-tooth disease dominant intermediate e
glomerulosclerosis, focal segmental, 5
  • focal segmental glomerulosclerosis 5
charcot-marie-tooth neuropathy dominant intermediate e
  • charcot-marie-tooth neuropathy with focal segmental glomerulonephritis
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
focal segmental glomerulosclerosis
  • fgs
- 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 64
  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 M.A. (Kidney Int. 2013) 3 4 64
  3. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. (PMID: 24174593) Mademan I. … Baets J. (Neurology 2013) 3 4 64
  4. 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 64
  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 64

Products for INF2 Gene

Sources for INF2 Gene

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