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INF2 Gene

protein-coding   GIFtS: 54
GCID: GC14P105155

Inverted Formin, FH2 And WH2 Domain Containing

(Previous names: chromosome 14 open reading frame 151, chromosome 14 open...)
(Previous symbols: C14orf151, C14orf173)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Inverted Formin, FH2 And WH2 Domain Containing1 2     Chromosome 14 Open Reading Frame 1511
C14orf1731 2 3 5     Chromosome 14 Open Reading Frame 1731
C14orf1511 2 3     Inverted Formin 21
HBEBP2-Binding Protein C2 3     HBEAG-Binding Protein 2 Binding Protein C2
CMTDIE2 5     Inverted Formin-22
FSGS52 5     pp94842

External Ids:    HGNC: 237911   Entrez Gene: 644232   Ensembl: ENSG000002034857   OMIM: 6109825   UniProtKB: Q27J813   

Export aliases for INF2 gene to outside databases

Previous GC identifers: GC14P104245 GC14P085353


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 focal segmental glomerulosclerosis 5, and autosomal dominant intermediate charcot-marie-tooth disease type e. GO annotations related to this gene include Rho GTPase binding and actin binding. An important paralog of this gene is DAAM1.

UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81
Function: Severs actin filaments and accelerates their polymerization and depolymerization (By similarity)

Gene Wiki entry for INF2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the INF2 gene promoter:
         NCX/Ncx   RelA   NF-kappaB   Evi-1   HEN1   NRF-2   HFH-1   NF-kappaB1   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): INF2 promoter sequence
   Search Chromatin IP Primers for INF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INF2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

INF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INF2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P105155:  view genomic region     (about GC identifiers)

Start:
105,155,943 bp from pter      End:
105,185,947 bp from pter
Size:
30,005 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81 (See protein sequence)
Recommended Name: Inverted formin-2  
Size: 1249 amino acids; 135624 Da
Subunit: Interacts with actin at the FH2 domain (By similarity)
Sequence caution: Sequence=AAH08756.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH64828.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=ABD59343.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=ABD59344.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=ABD59345.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAB15224.1; Type=Erroneous termination; Positions=636, 759;
Note=Translated as Lys, Gln; Sequence=EAW81872.1; Type=Erroneous gene model prediction;
Secondary accessions: Q27J83 Q69YL8 Q6P1X7 Q6PK22 Q86TR7 Q9BRM1 Q9H6N1
Alternative splicing: 3 isoforms:  Q27J81-1   Q27J81-2   Q27J81-3   (Contains a phosphoserine at position 1229)

Explore the universe of human proteins at neXtProt for INF2: NX_Q27J81

Explore proteomics data for INF2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys566, Lys571, Lys673, Lys682
  • Modification sites at PhosphoSitePlus

  • See INF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001026884.3  NP_071934.3  NP_116103.1  

    ENSEMBL proteins: 
     ENSP00000376406   ENSP00000381380   ENSP00000376410   ENSP00000252527  

    INF2 Human Recombinant Protein Products:

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    INF2 Antibody Products:

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    Cloud-Clone Corp. CLIAs for INF2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR010473 GTPase-bd
     IPR010472 FH3_dom
     IPR015425 FH2_Formin
     IPR027649 Inf2
     IPR014768 GTPase-bd/formin_homology_3

    Graphical View of Domain Structure for InterPro Entry Q27J81

    ProtoNet protein and cluster: Q27J81

    1 Blocks protein domain: IPB003104 Actin-binding FH2

    UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81
    Domain: The WH2 domain acts as the DAD (diaphanous autoregulatory) domain and binds to actin monomers (By
    similarity)
    Domain: Regulated by autoinhibition due to intramolecular GBD-DAD binding (By similarity)
    Domain: The severing activity is dependent on covalent attachment of the FH2 domain to the C-terminus (By
    similarity)
    Similarity: Belongs to the formin homology family
    Similarity: Contains 1 FH2 (formin homology 2) domain
    Similarity: Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain
    Similarity: Contains 1 WH2 domain


    INF2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: INF2_HUMAN, Q27J81
    Function: Severs actin filaments and accelerates their polymerization and depolymerization (By similarity)
    Enzyme regulation: Phosphate inhibits both the depolymerization and severing activities

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005488binding ----
    GO:0017048Rho GTPase binding IEA--
         
    INF2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for INF2:
     Decreased focal adhesion (FA)   Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

         1 MGI phenotypic allele for Inf2 (no phenotypes)

    INF2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INF2
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    miRTarBase miRNAs that target INF2:
    hsa-mir-124-3p (MIRT022208), hsa-mir-16-5p (MIRT031476)

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    5 qRT-PCR Assays for microRNAs that regulate INF2:
    hsa-miR-3910 hsa-miR-124 hsa-miR-555 hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): INF2 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for INF2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INF2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    INF2_HUMAN, Q27J81: Cytoplasm, perinuclear region
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    nucleus4
    cytosol3
    cytoskeleton2
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0048471perinuclear region of cytoplasm IDA--

    INF2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for INF2
    Interactions:

        Search GeneGlobe Interaction Network for INF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for INF2 (Q27J812, 3 ENSP000003764104) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2R2Q712K32, 3, ENSP000002632284MINT-8276278 I2D: score=2 STRING: ENSP00000263228
    XRCC6P129563I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    KYENSP000003975984STRING: ENSP00000397598
    PRC1ENSP000003777934STRING: ENSP00000377793
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016043cellular component organization ----
    GO:0030036actin cytoskeleton organization IEA--
    GO:0032535regulation of cellular component size IEA--
    GO:0090140regulation of mitochondrial fission IMP--

    INF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for INF2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for INF2 gene (3 alternative transcripts): 
    NM_001031714.3  NM_022489.3  NM_032714.2  

    Unigene Cluster for INF2:

    Inverted formin, FH2 and WH2 domain containing
    Hs.24956  [show with all ESTs]
    Unigene Representative Sequence: NM_022489
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330634(uc001ypc.2) ENST00000398337(uc001yoy.4) ENST00000392634(uc001ypb.2 uc010awz.1)
    ENST00000252527 ENST00000474229 ENST00000480763 ENST00000477497 ENST00000481338

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate INF2:
    hsa-miR-3910 hsa-miR-124 hsa-miR-555 hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): INF2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): INF2 (NM_000934)
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat INF2

    Additional mRNA sequence: 

    AF318379.1 AK025709.1 AK027105.1 AK225325.1 AK290083.1 AL832905.1 BC006173.1 BC008756.2 
    BC064828.1 BX248757.1 DQ395338.1 DQ395339.1 DQ499599.1 

    15 DOTS entries:

    DT.92463730  DT.100790959  DT.421490  DT.100649163  DT.97812386  DT.301828  DT.120773363  DT.97847264 
    DT.100000609  DT.120773338  DT.92023265  DT.95364216  DT.99929124  DT.120773361  DT.91871257 

    Selected AceView cDNA sequences (see all 250):

    BM830175 BQ005261 BM781687 AI391455 AI239678 BM053072 BQ877818 BE888234 
    BG820892 BU633644 BI767269 BQ961310 CB139804 AI380054 BQ949116 BP360445 
    BX479267 AW297976 AW291558 AW136722 AI860458 BM738319 BM931920 AI814398 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    INF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAGCCCCT
    INF2 Expression
    About this image


    INF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Cerebral Cortex
    INF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    INF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.24956

    UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81
    Tissue specificity: Widely expressed. In the kidney, expression is apparent in podocytes and some tubule cells

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for INF2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Inf21 , 5 inverted formin, FH2 and WH2 domain containing1, 5 80.75(n)1
    80.17(a)1
      12 (61.20 cM)5
    704351  NM_198411.21  NP_940803.21 
     1125887845 
    chicken
    (Gallus gallus)
    Aves INF21 inverted formin, FH2 and WH2 domain containing 61.78(n)
    61.41(a)
      423492  XM_004936400.1  XP_004936457.1 
    lizard
    (Anolis carolinensis)
    Reptilia INF26
    inverted formin, FH2 and WH2 domain containing
    54(a)
    1 ↔ 1
    1(4239613-4287420)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.148102 Transcribed sequence with moderate similarity to protein more 76.49(n)    BX747576.1 
    zebrafish
    (Danio rerio)
    Actinopterygii INF26
    inverted formin, FH2 and WH2 domain containing
    55(a)
    1 ↔ 1
    Zv9_scaffold3548(908-42073) ENSDARG00000015102


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for INF2 gene
    DAAM12  DIAPH12  FMNL32  FHDC12  FMNL12  DAAM22  FMNL22  GRID2IP2  
    FMN12  DIAPH22  FMN22  DIAPH32  

    INF2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for INF2 (see all 854)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630794
    Focal segmental glomerulosclerosis 5 (FSGS5)4--see VAR_0630792 L R mis40--------
    VAR_0675914
    Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)4--see VAR_0675912 C W mis40--------
    VAR_0630814
    Focal segmental glomerulosclerosis 5 (FSGS5)4--see VAR_0630812 R Q mis40--------
    VAR_0630764
    Focal segmental glomerulosclerosis 5 (FSGS5)4--see VAR_0630762 L P mis40--------
    VAR_0675904
    Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)4--see VAR_0675902 C R mis40--------
    VAR_0630774
    Focal segmental glomerulosclerosis 5 (FSGS5)4--see VAR_0630772 E K mis40--------
    VAR_0630804
    Focal segmental glomerulosclerosis 5 (FSGS5)4--see VAR_0630802 R H mis40--------
    VAR_0675924
    Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)4--see VAR_0675922 L P mis40--------
    VAR_0630784
    Focal segmental glomerulosclerosis 5 (FSGS5)4--see VAR_0630782 S P mis40--------
    VAR_0675934
    Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)4--see VAR_0675932 L R mis40--------

    HapMap Linkage Disequilibrium report for INF2 (105155943 - 105185947 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for INF2 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1437CNV Insertion18451855
    dgv2013n71CNV Loss21882294
    dgv2008n71CNV Loss21882294
    dgv2011n71CNV Loss21882294
    dgv2015n71CNV Loss21882294
    nsv517038CNV Loss19592680
    dgv2010n71CNV Loss21882294
    dgv265n27CNV Loss19166990
    dgv2014n71CNV Loss21882294
    dgv2012n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): INF2
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610982   
    OMIM disorders: 613237  614455  
    UniProtKB/Swiss-Prot: INF2_HUMAN, Q27J81
  • 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. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 14 diseases for INF2:    
    About MalaCards
    focal segmental glomerulosclerosis 5    autosomal dominant intermediate charcot-marie-tooth disease type e    focal segmental glomerulosclerosis    gallbladder cancer
    charcot-marie-tooth disease    tooth disease    peripheral neuropathy    proteinuria
    glomerulonephritis    neuropathy    multiple myeloma    myeloma
    malaria    cerebritis

    1 disease from the University of Copenhagen DISEASES database for INF2:
    Focal segmental glomerulosclerosis

    INF2 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: INF2 (1 document)

    Export disorders for INF2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for INF2 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with INF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis. (PubMed id 22971997)1, 2 Sanchez-Ares M.... Garcia-Gonzalez M.A. (Kidney Int. 2013)
    2. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. (PubMed id 22187985)1, 2 Boyer O....Mollet G. (N. Engl. J. Med. 2011)
    3. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. (PubMed id 20023659)1, 2 Brown E.J.... Pollak M.R. (Nat. Genet. 2010)
    4. INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. (PubMed id 16818491)1, 3 Chhabra E.S. and Higgs H.N. (J. Biol. Chem. 2006)
    5. Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy. (PubMed id 22961558)1 Rodriguez P.Q....Patrakka J. (Pediatr. Nephrol. 2013)
    6. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    7. [Case report; A case of familial focal segmental glomerulosclerosis with a mutation in the formin INF2]. (PubMed id 23847988)1 Yamamoto J....Atsumi T. (Nippon Naika Gakkai Zasshi 2013)
    8. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. (PubMed id 23014460)1 Barua M....Pollak M.R. (Kidney Int. 2013)
    9. INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis. (PubMed id 23521651)1 Toyota K....Hayasaka K. (J. Peripher. Nerv. Syst. 2013)
    10. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. (PubMed id 24174593)1 Mademan I....Baets J. (Neurology 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64423 HGNC: 23791 AceView: C14orf173 Ensembl:ENSG00000203485 euGenes: HUgn64423
    ECgene: INF2 H-InvDB: INF2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for INF2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for INF2 gene:
    Search GeneIP for patents involving INF2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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