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FERMT2 Gene

protein-coding   GIFtS: 57
GCID: GC14M053323

Fermitin Family Member 2

(Previous names: pleckstrin homology domain containing, family C (with FERM...)
(Previous symbol: PLEKHC1)
  See FERMT2-related disease
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
Fermitin Family Member 21 2     Fermitin Family Homolog 2 (Drosophila)1
PLEKHC11 2 3 5     UNC112B2
KIND22 3 5     Fermitin Family Homolog 22
MIG22 3 5     Kindlin 22
Pleckstrin Homology Domain Containing, Family C (With FERM Domain) Member
11 2
     mig-22
kindlin-21 2     Mitogen Inducible Gene 2 Protein2
Mitogen-Inducible Gene 2 Protein2 3     Pleckstrin Homology Domain Containing, Family C Member 12
Pleckstrin Homology Domain-Containing Family C Member 12 3     Kindlin-23
PH Domain-Containing Family C Member 12 3     MIG-23
UNC1122 5     

External Ids:    HGNC: 157671   Entrez Gene: 109792   Ensembl: ENSG000000737127   OMIM: 6077465   UniProtKB: Q96AC13   

Export aliases for FERMT2 gene to outside databases

Previous GC identifers: GC14M052394 GC14M033486


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FERMT2 Gene:
FERMT2 (fermitin family member 2) is a protein-coding gene. Diseases associated with FERMT2 include kindler syndrome. GO annotations related to this gene include phosphatidylinositol-3,4,5-trisphosphate binding. An important paralog of this gene is FERMT3.

UniProtKB/Swiss-Prot: FERM2_HUMAN, Q96AC1
Function: Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates
integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated
cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with
integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the
connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration
of actin assembly and cell shape modulation. Recruits FBLIM1 to focal adhesions. Plays a role in the TGFB1 and
integrin signaling pathways. Stabilizes active CTNNB1 and plays a role in the regulation of transcription
mediated by CTNNB1 and TCF7L2/TCF4 and in Wnt signaling

Gene Wiki entry for FERMT2 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 at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FERMT2 gene promoter:
         SREBP-1c   FOXD3   HNF-1A   SREBP-1b   Egr-2   SREBP-1a   deltaCREB   HNF-1   SEF-1 (1)   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFERMT2 promoter sequence
   Search Chromatin IP Primers for FERMT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FERMT2


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

Entrez Gene cytogenetic band: 14q22.1   Ensembl cytogenetic band:  14q22.1   HGNC cytogenetic band: 14q22.1

FERMT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FERMT2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M053323:  view genomic region     (about GC identifiers)

Start:
53,323,986 bp from pter      End:
53,419,153 bp from pter
Size:
95,168 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FERM2_HUMAN, Q96AC1 (See protein sequence)
Recommended Name: Fermitin family homolog 2  
Size: 680 amino acids; 77861 Da
Subunit: Interacts with ILK (By similarity). Interacts with FBLIM1. Interacts with ITGB1 and ITGB3. Interacts with
active, unphosphorylated CTNNB1. Identified in a complex with CTNNB1 and TCF7L2/TCF4. Interacts with ITGB1; the
interaction is inhibited in presence of ITGB1BP1
Sequence caution: Sequence=CAA80852.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for FERMT2:
2LGX (3D)        2LKO (3D)        4F7H (3D)    
Secondary accessions: B5TJY2 Q14840 Q86TY7
Alternative splicing: 3 isoforms:  Q96AC1-1   Q96AC1-2   Q96AC1-3   (May be due to an exon inclusion and an intron retention)

Explore the universe of human proteins at neXtProt for FERMT2: NX_Q96AC1

Explore proteomics data for FERMT2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys285
  • Modification sites at PhosphoSitePlus

  • See FERMT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001128471.1  NP_001128472.1  NP_006823.1  

    ENSEMBL proteins: 
     ENSP00000378993   ENSP00000340391   ENSP00000450741   ENSP00000451084   ENSP00000451134  
     ENSP00000382243   ENSP00000451268   ENSP00000452472   ENSP00000450506   ENSP00000451085  
     ENSP00000342858  
    Reactome Protein details: Q96AC1

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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for FERMT2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    FERMT: Fermitins

    Selected InterPro protein domains (see all 6):
     IPR019748 FERM_central
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR014352 FERM/acyl-CoA-bd_prot_3-hlx
     IPR019749 Band_41_domain

    Graphical View of Domain Structure for InterPro Entry Q96AC1

    ProtoNet protein and cluster: Q96AC1

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: FERM2_HUMAN, Q96AC1
    Domain: The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion
    of a PH domain
    Domain: The PH domain binds phospholipids. Binds preferentially phosphatidylinositol-3,4,5-trisphosphate, and has
    lower affinity for phosphatidylinositol-4,5-bisphosphate (PubMed:22030399)
    Domain: The N-terminal region displays a ubiquitin-type fold and mediates interaction with membranes containing
    negatively charged phosphatidylinositol phosphate via a surface enriched in positively charged residues
    (PubMed:22078565)
    Similarity: Belongs to the kindlin family
    Similarity: Contains 1 FERM domain
    Similarity: Contains 1 PH domain


    Find genes that share domains with FERMT2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FERM2_HUMAN, Q96AC1
    Function: Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates
    integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated
    cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with
    integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the
    connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration
    of actin assembly and cell shape modulation. Recruits FBLIM1 to focal adhesions. Plays a role in the TGFB1 and
    integrin signaling pathways. Stabilizes active CTNNB1 and plays a role in the regulation of transcription
    mediated by CTNNB1 and TCF7L2/TCF4 and in Wnt signaling
    Induction: By serum in lung fetal fibroblast cultured cells

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0005547phosphatidylinositol-3,4,5-trisphosphate binding IDA--
         
    Find genes that share ontologies with FERMT2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for FERMT2:
     Increased S DNA content  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fermt2):
     cellular  embryogenesis  mortality/aging  no phenotypic analysis 

    Find genes that share phenotypes with FERMT2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fermt2tm1Ref for FERMT2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FERMT2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FERMT2

    miRNA
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    miRTarBase miRNAs that target FERMT2:
    hsa-mir-1 (MIRT005281), hsa-mir-21-5p (MIRT031065), hsa-mir-30b-5p (MIRT046125)

    Block miRNA regulation of human, mouse, rat FERMT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FERMT2 (see all 49):
    hsa-miR-323-3p hsa-miR-582-3p hsa-miR-376b hsa-miR-15a hsa-miR-29a hsa-miR-301a hsa-miR-374c hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidFERMT2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FERMT2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERMT2


    (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
    FERM2_HUMAN, Q96AC1: Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cell junction, focal adhesion.
    Membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium membrane; Peripheral
    membrane protein; Cytoplasmic side. Nucleus. Cytoplasm, myofibril, sarcomere, I band (By similarity). Cell
    surface (By similarity). Note=Colocalizes with actin stress fibers at cell-ECM focal adhesion sites. Colocalizes
    with ITGB3 at lamellipodia at the leading edge of spreading cells. Binds to membranes that contain
    phosphatidylinositides
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    plasma membrane5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with FERMT2           About GenesLikeMe


    (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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    SuperPaths for FERMT2 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell junction organization0.70
    Cell-extracellular matrix interactions0.00
    Cell-Cell communication0.64


    Find genes that share SuperPaths with FERMT2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for FERMT2
        ILK Signaling


    1 Reactome Pathway for FERMT2
        Cell-extracellular matrix interactions


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FERMT2
    Interactions:

        Search GeneGlobe Interaction Network for FERMT2

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

    Selected Interacting proteins for FERMT2 (Q96AC11, 2, 3 ENSP000003428584) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTNNB1P352221, 2EBI-4399465,EBI-491549 MINT-8398724 MINT-8399030 MINT-8398831 MINT-8398987 MINT-8398882 MINT-8398896 MINT-8398917 MINT-8398737 MINT-8399014 MINT-8398779 MINT-8399000 MINT-8398937 MINT-8398816 MINT-8398862 MINT-8398799 MINT-8398846 MINT-8398755
    TCF4P158841, 2EBI-4399465,EBI-533224 MINT-8398937 MINT-8399030 MINT-8398862 MINT-8398882 MINT-8398896 MINT-8398917 MINT-8398954
    FBLIM1Q8WUP23, ENSP000004163874I2D: score=2 STRING: ENSP00000416387
    PARVAQ9NVD73, ENSP000003340084I2D: score=1 STRING: ENSP00000334008
    ARAFP103983I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007160cell-matrix adhesion ISS--
    GO:0007179transforming growth factor beta receptor signaling pathway IMP--
    GO:0007229integrin-mediated signaling pathway IMP--
    GO:0008360regulation of cell shape IEA--
    GO:0016055Wnt signaling pathway IMP--

    Find genes that share ontologies with FERMT2           About GenesLikeMe



    (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 FERMT2 (FERM2)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FERMT2 gene (3 alternative transcripts): 
    NM_001134999.1  NM_001135000.1  NM_006832.2  

    Unigene Cluster for FERMT2:

    Fermitin family member 2
    Hs.509343  [show with all ESTs]
    Unigene Representative Sequence: NM_001134999
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395631(uc001xad.3) ENST00000341590(uc001xae.3) ENST00000557255
    ENST00000554152 ENST00000555546 ENST00000553373 ENST00000553663 ENST00000399304(uc001xaf.3)
    ENST00000553768 ENST00000554288 ENST00000555692 ENST00000554712 ENST00000557562
    ENST00000343279(uc001xac.3)
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    hsa-miR-323-3p hsa-miR-582-3p hsa-miR-376b hsa-miR-15a hsa-miR-29a hsa-miR-301a hsa-miR-374c hsa-miR-424
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    Additional mRNA sequence: 

    AF443279.1 AK126426.1 AK291738.1 BC011125.1 BC017327.2 BX161467.1 EU979385.1 Z24725.1 

    13 DOTS entries:

    DT.95229891  DT.100812360  DT.99979568  DT.40206342  DT.100024323  DT.120771632  DT.100718988  DT.99938480 
    DT.91760946  DT.91760965  DT.95310000  DT.75101300  DT.99973191 

    Selected AceView cDNA sequences (see all 174):

    CR624174 AF443279 T28567 BC017327 BX464883 AA444033 AI224965 AA446538 
    AW271443 AV703349 BG435558 BU188003 AI355335 AI627283 NM_006832 CB265794 
    BX330544 AA364982 BQ437790 BX161467 T16775 BX398816 BI088121 BV203818 

    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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    FERMT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTCAAAGAC
    FERMT2 Expression
    About this image


    FERMT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
     
     Uterus (Reproductive System)
     
     Liver (Hepatobiliary System)
    FERMT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FERMT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.509343

    UniProtKB/Swiss-Prot: FERM2_HUMAN, Q96AC1
    Tissue specificity: Ubiquitous. Found in numerous tumor tissues

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERMT2

    (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 animals.

    Orthologs for FERMT2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fermt21 , 5 fermitin family homolog 2 (Drosophila)1, 5 89.46(n)1
    98.24(a)1
      14 (22.97 cM)5
    2189521  NM_146054.21  NP_666166.21 
     454587925 
    chicken
    (Gallus gallus)
    Aves PLEKHC11 pleckstrin homology domain containing, family C (with more 80.35(n)
    95.78(a)
      423589  XM_004936525.1  XP_004936582.1 
    lizard
    (Anolis carolinensis)
    Reptilia FERMT26
    fermitin family member 2
    82(a)
    1 ↔ 1
    AAWZ02038193(7953-9445)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.33922 Xenopus laevis transcribed sequence with strong similarity more 84.32(n)    CA971258.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fermt21 fermitin family homolog 2 (Drosophila) 76.56(n)
    91.23(a)
      553051  NM_001256215.1  NP_001243144.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fit11 Fermitin 1 55.01(n)
    51.84(a)
      38488  NM_139601.4  NP_647858.2 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1121 unc-112 53.17(n)
    46.73(a)
      179972  NM_074227.6  NP_506628.1 


    ENSEMBL Gene Tree for FERMT2 (if available)
    TreeFam Gene Tree for FERMT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FERMT2 gene
    FERMT32  FERMT12  
    3 SIMAP similar genes for FERMT2 using alignment to 7 protein entries:     FERM2_HUMAN (see all proteins):
    FERMT1    DTGCU2    FERMT3

    Find genes that share paralogs with FERMT2           About GenesLikeMe



    (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 FERMT2 (see all 1997)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs588571611,2
    C--33572169(+) ACAAA-/TAGTTTA 3 -- int11Minor allele frequency- TA:0.00NA 2
    rs733007691,2
    C,F--53323594(+) AATTGG/TTCTAA 2 -- ds50012Minor allele frequency- T:0.12WA 120
    rs1381792881,2
    --53323819(+) TTCAAC/TTGAGG 2 -- ds50010--------
    rs1866825241,2
    --53323963(+) TGTAAA/CCATTA 2 -- ds50010--------
    rs1495636811,2
    --53324140(+) ACAGAG/TTGTAA 2 -- ut310--------
    rs1907931191,2
    --53324150(+) ACAGCA/GCAACA 2 -- ut310--------
    rs758422231,2
    C,F--53324265(+) ATTATA/CTCTCT 2 -- ut311Minor allele frequency- C:0.05NA 120
    rs1812605811,2
    --53324288(+) ATTAAC/TGCAGA 2 -- ut310--------
    rs1857028681,2
    --53324308(+) ATTTAA/GGCCAT 2 -- ut310--------
    rs799480141,2
    C--53324425(+) ATGCA-/AAGAGTT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for FERMT2 (53323986 - 53419153 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FERMT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820177CNV Loss19587683
    nsv832796CNV Loss17160897
    nsv832797CNV Gain17160897
    nsv901953CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FERMT2
    DNA2.0 Custom Variant and Variant Library Synthesis for FERMT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607746    OMIM disorders: --

    1 disease for FERMT2:    
    About MalaCards
    kindler syndrome


    Find genes that share disorders with FERMT2           About GenesLikeMe


    Export disorders for FERMT2 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 FERMT2 gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with FERMT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. URP1: a member of a novel family of PH and FERM domain-containing membrane-associated proteins is significantly over-expressed in lung and colon carcinomas. (PubMed id 12697302)1, 2, 3 Weinstein E.J....Mazzarella R. (Biochim. Biophys. Acta 2003)
    2. Identification of serum-inducible genes: different patterns of gene regulation during G0->S and G1->S progression. (PubMed id 8175911)1, 2, 3 Wick M.... Mueller R. (J. Cell Sci. 1994)
    3. Kindlin-2 (Mig-2): a co-activator of beta3 integrins. (PubMed id 18458155)1, 2, 9 Ma Y.Q.... Plow E.F. (J. Cell Biol. 2008)
    4. Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation. (PubMed id 12679033)1, 2, 9 Tu Y.... Wu C. (Cell 2003)
    5. Kindlin 2 forms a transcriptional complex with beta-catenin and TCF4 to enhance Wnt signalling. (PubMed id 22699938)1, 2 Yu Y....Zhang H. (EMBO Rep. 2012)
    6. Kindlin-2 regulates podocyte adhesion and fibronectin matrix deposition through interactions with phosphoinositides and integrins. (PubMed id 21325030)1, 2 Qu H.... Wu C. (J. Cell Sci. 2011)
    7. Structural basis of phosphoinositide binding to kindlin-2 protein pleckstrin homology domain in regulating integrin activation. (PubMed id 22030399)1, 2 Liu J.... Qin J. (J. Biol. Chem. 2011)
    8. Membrane binding of the N-terminal ubiquitin-like domain of kindlin-2 is crucial for its regulation of integrin activation. (PubMed id 22078565)1, 2 Perera H.D.... Qin J. (Structure 2011)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10979 HGNC: 15767 AceView: PLEKHC1 Ensembl:ENSG00000073712 euGenes: HUgn10979
    ECgene: FERMT2 H-InvDB: FERMT2

    (According to HUGE)
    About This Section

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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 FERMT2 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/FERMT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FERMT2 gene:
    Search GeneIP for patents involving FERMT2

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



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