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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

INF2 Gene

protein-coding   GIFtS: 53
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)
About This Section

Aliases
Inverted Formin, FH2 And WH2 Domain Containing1 2     Chromosome 14 Open Reading Frame 1731
C14orf1731 2 3 5     Inverted Formin 21
C14orf1511 2 3     CMTDIE2
HBEBP2-Binding Protein C2 3     HBEAG-Binding Protein 2 Binding Protein C2
FSGS52 5     Inverted Formin-22
Chromosome 14 Open Reading Frame 1511     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 focal segmental glomerulosclerosis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for INF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cytoplasm, perinuclear region
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q27J81

  • INF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    INF2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001026884.3  NP_071934.3  NP_116103.1  

    ENSEMBL proteins: 
     ENSP00000376406   ENSP00000381380   ENSP00000376410   ENSP00000252527  

    Human Recombinant Protein Products for INF2: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for INF2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR010473 Drf_GTPase-bd
     IPR010472 Drf_FH3
     IPR015425 FH2_actin-bd
     IPR003104 Actin-bd_FH2/DRF_autoreg
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for INF2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INF2 
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    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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for INF2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5 Interacting proteins for INF2 (Q27J812, 3 ENSP000003764104) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2R2Q712K32, 3, ENSP000002632284MINT-8276278 I2D: score=2 STRING: ENSP00000263228
    XRCC6P129563I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    --Q96FS53I2D: score=1 
    --Q9WMX22MINT-7048477
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

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

    INF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for INF2

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 QIAGEN miScript miRNA 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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    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 

    24/250 AceView cDNA sequences (see all 250):

    BG820892 BQ961310 CB139804 AI860458 BP360445 AW006121 BQ877818 AW136722 
    AI814398 BQ005261 BM710966 AW297976 BM781687 AI239678 AA327244 BM738319 
    BM830175 AI391455 BG056925 AI380054 BM931920 BM053072 BI767269 BQ949116 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    INF2 expression in normal human tissues (normalized intensities)      INF2 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             striatum   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Blood (Hematopoietic System)
             platelets   

    See INF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for INF2

    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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INF2

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for INF2 gene from 6/13 species (see all 13)    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 80.22(n)1
    80.84(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 62.42(n)
    63.21(a)
      423492  XM_421396.3  XP_421396.3 
    lizard
    (Anolis carolinensis)
    Reptilia INF26
    inverted formin, FH2 and WH2 domain containing
    51(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 LOC1003296521 inverted formin-2-like 65.15(n)
    61.39(a)
      100329652  XM_002667346.2  XP_002667392.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta form31 formin 3 47.91(n)
    34.04(a)
      3346238  NM_001104057.1  NP_001097527.1 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/854 SNPs in INF2 are shown (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) 10/21 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing INF2
    DNA2.0 Custom Variant and Variant Library Synthesis for INF2

    (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.)
    About This Section
    OMIM gene information: 610982   
    OMIM disorders: 613237  
    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

  • 9 diseases for INF2:    About MalaCards
    focal segmental glomerulosclerosis 5    focal segmental glomerulosclerosis    gallbladder cancer    charcot-marie-tooth disease
    tooth disease    peripheral neuropathy    proteinuria    glomerulonephritis
    neuropathy

    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)
    About This Section

    PubMed articles for INF2 gene, integrated from 9 sources (see all 47):
    (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. (2013)
    2. INF2 mutations in Charcot-Marie-Tooth disease with gl omerulopathy. (PubMed id 22187985)1, 2 Boyer O....Mollet G. (2011)
    3. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. (PubMed id 20023659)1, 2 Brown E.J.... Pollak M.R. (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. (2006)
    5. Novel INF2 mutation p. L77P in a family with glomerulo pathy and Charcot-Marie-Tooth neuropathy. (PubMed id 22961558)1 Rodriguez P.Q....Patrakka J. (2013)
    6. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    7. [Case report; A case of familial focal segmental glome rulosclerosis with a mutation in the formin INF2]. (PubMed id 23847988)1 Yamamoto J....Atsumi T. (2013)
    8. Mutations in the INF2 gene account for a significant p roportion of familial but not sporadic focal and segmental glomerulosclerosis. (PubMed id 23014460)1 Barua M....Pollak M.R. (2013)
    9. INF2 mutations in Charcot-Marie-Tooth disease complica ted with focal segmental glomerulosclerosis. (PubMed id 23521651)1 Toyota K....Hayasaka K. (2013)
    10. Inverted formin 2 regulates actin dynamics by antagoni zing Rho/diaphanous-related formin signaling. (PubMed id 23620398)1 Sun H....Pollak M.R. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64423 HGNC: 23791 AceView: C14orf173 Ensembl:ENSG00000203485 euGenes: HUgn64423
    ECgene: INF2 H-InvDB: INF2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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