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

FERMT1 Gene

protein-coding   GIFtS: 55
GCID: GC20M006055

fermitin family member 1

(Previous names: chromosome 20 open reading frame 42, fermitin family homolog...)
(Previous symbol: C20orf42)
 Explore 10 diseases affiliated with
FERMT1 via our new
 Human Malady Compendium 
Biological research products
for FERMT1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Fermitin Family Member 11 2     Fermitin Family Homolog 1 (Drosophila)1
C20orf421 2 3 5     DTGCU22
KIND11 2 3 5     Fermitin Family Homolog 12
URP11 2 3 5     Kindlerin3
UNC112A1 2     Kindlin 12
Kindlin Syndrome Protein2 3     UNC112 Related Protein 12
Unc-112-Related Protein 12 3     Kindlerin3
FLJ201161     Kindlin-13
Chromosome 20 Open Reading Frame 421     

External Ids:    HGNC: 158891   Entrez Gene: 556122   Ensembl: ENSG000001013117   OMIM: 6079005   UniProtKB: Q9BQL63   

Export aliases for FERMT1 gene to outside databases

Previous GC identifer: GC20M006004


(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 FERMT1:
This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The
encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix.
Mutations in this gene have been linked to Kindler syndrome. (provided by RefSeq, Dec 2009)

UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6
Function: Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates
activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal
keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and
laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression

Gene Wiki entry for FERMT1 (C20orf42)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FERMT1 gene promoter:
         STAT5B   STAT1   AML1a   STAT4   STAT1beta   STAT5A   STAT1alpha   GATA-1   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFERMT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FERMT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FERMT1


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

Entrez Gene cytogenetic band: 20p12.3   Ensembl cytogenetic band:  20p12.3   HGNC cytogenetic band: 20p12.3

FERMT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FERMT1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M006055:  view genomic region     (about GC identifiers)

Start:
6,055,492 bp from pter      End:
6,104,191 bp from pter
Size:
48,700 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6 (See protein sequence)
Recommended Name: Fermitin family homolog 1  
Size: 677 amino acids; 77437 Da
Subunit: Interacts with the cytoplasmic domain of integrins ITGB1 and ITGB3
Subcellular location: Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, ruffle membrane;
Peripheral membrane protein; Cytoplasmic side. Note=Constituent of focal adhesions. Localized at the basal aspect of
skin keratinocytes, close to the cell membrane. Colocalizes with filamentous actin. Upon TGFB1 treatment, it localizes
to membrane ruffles
Sequence caution: Sequence=BAA91358.1; Type=Erroneous initiation; Sequence=BAC03826.1; Type=Erroneous initiation;
Secondary accessions: D3DW10 Q8IX34 Q8IYH2 Q9NWM2 Q9NXQ3
Alternative splicing: 4 isoforms:  Q9BQL6-1   Q9BQL6-2   Q9BQL6-3   Q9BQL6-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FERMT1: NX_Q9BQL6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BQL6

  • FERMT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060141.3  
    ENSEMBL proteins: 
     ENSP00000217289   ENSP00000368121   ENSP00000441063  

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    Uscn Proteins for FERMT1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IDA17012746
    GO:0005925focal adhesion IEA--
    GO:0030054cell junction IDA17012746
    GO:0031941filamentous actin IEA--
    GO:0032587ruffle membrane IEA--


    FERMT1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FERMT1 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 Q9BQL6

    ProtoNet protein and cluster: Q9BQL6

    1 Blocks protein family: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6
    Domain: The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a
    PH domain. The FERM domain contains the subdomains F1, F2 and F3. It is preceded by a F0 domain with a ubiquitin-like
    fold. The F0 domain is required for integrin activation and for localization at focal adhesions
    Similarity: Belongs to the kindlin family
    Similarity: Contains 1 FERM domain
    Similarity: Contains 1 PH domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6
    Function: Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates
    activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal
    keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and
    laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression
    Induction: By TGFB1

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005543phospholipid binding IEA--


    FERMT1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for FERMT1:
     Increased G1 DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-out Fermt1tm1Ref for FERMT1
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fermt1):
     cellular  digestive/alimentary  growth/size  homeostasis/metabolism  immune system 
     integument  mortality/aging  renal/urinary system 

    FERMT1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FERMT1

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

    5/783 Interacting proteins for FERMT1 (Q9BQL62, 3 ENSP000002172894) via UniProtKB, MINT, STRING, and/or I2D (see all 783)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IQGAP1P469402, ENSP000002681824MINT-7945693 MINT-7947479 STRING: ENSP00000268182
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    SRPK1Q96SB43, ENSP000003910694I2D: score=1 STRING: ENSP00000391069
    ABCF1Q8NE712MINT-7945693 MINT-7947479
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IDA17012746
    GO:0043616keratinocyte proliferation IDA17012746
    GO:0051546keratinocyte migration IDA17012746
    GO:0090162establishment of epithelial cell polarity IDA17012746


    FERMT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 FERMT1
    Search CenterWatch for drugs/clinical trials and news about FERMT1 / FERM1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FERMT1 gene: 
    NM_017671.4  

    Unigene Cluster for FERMT1:

    Fermitin family member 1
    Hs.472054  [show with all ESTs]
    Unigene Representative Sequence: AB105105
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000217289(uc002wmr.3 uc010gbt.3 uc002wms.3) ENST00000478194(uc002wmq.3)
    ENST00000468424(uc002wmt.3) ENST00000378844 ENST00000536936

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    hsa-miR-607 hsa-miR-548o hsa-miR-597 hsa-miR-507 hsa-miR-373* hsa-miR-661 hsa-miR-1323 hsa-miR-24
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB105105.1 AF443278.1 AK000123.1 AK000747.1 AK027076.1 AK092195.1 AK225216.1 AK314394.1 
    AY137240.1 BC035882.1 BC040545.1 BX647465.1 

    6 DOTS entries:

    DT.452600  DT.95366560  DT.101981692  DT.75156456  DT.100764477  DT.92426114 

    24/121 AceView cDNA sequences (see all 121):

    CB147987 AA348346 AB105105 AW193135 BF513564 BG910397 AI569012 AI199117 
    BF222639 BF802635 NM_017671 AF443278 AI359970 AY137240 AW136973 BF591031 
    CB153128 AK000747 CB114673 AA348345 AI424300 BC040545 BM769706 AI910783 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for FERMT1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
    SP1:                    -                                                                 -           -                                             
    SP2:                    -           -                       -     -                       -           -                                             
    SP3:                                                                                                                                                
    SP4:                    -                                                                                                                           
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for FERMT1

    (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

    FERMT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACACACAGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    FERMT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FERMT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FERMT1

    SOURCE GeneReport for Unigene cluster: Hs.472054

    UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6
    Tissue specificity: Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly
    or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes.
    Overexpressed in some colon and lung tumors. In skin, it is localized within the epidermis and particularly in basal
    keratocytes. Not detected in epidermal melanocytes and dermal fibroblasts

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FERMT1

    (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 FERMT1 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fermt11 , 5 fermitin family homolog 1 (Drosophila)1, 5 85.23(n)1
    87.89(a)1
      2 (64.80 cM)5
    2416391  NM_198029.21  NP_932146.21 
     1329043895 
    chicken
    (Gallus gallus)
    Aves FERMT11 fermitin family member 1 76.42(n)
    80.21(a)
      416727  XM_415024.3  XP_415024.2 
    lizard
    (Anolis carolinensis)
    Reptilia FERMT16
    --
    78(a)
    1 ↔ 1
    1(136757430-136788919)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC042247.12   -- 75.99(n)    BC042247.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fermt11 fermitin family member 1 66.51(n)
    68.49(a)
      100332544  XM_002665785.2  XP_002665831.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fit16
    Fit26
    Fermitin 2
    41(a)
    40(a)
    many ↔ many
    many ↔ many
    3L(4103564-4107116)
    3L(17017428-17020217)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1126
    Protein unc-112
    40(a)
    1 → many
    V(14691837-14696918)


    ENSEMBL Gene Tree for FERMT1 (if available)
    TreeFam Gene Tree for FERMT1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FERMT1 gene
    FERMT22  FERMT32  
    3 SIMAP similar genes for FERMT1 using alignment to 4 protein entries:     FERM1_HUMAN (see all proteins):
    DTGCU2    FERMT2    FERMT3

    FERMT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1170 NCBI SNPs in FERMT1 are shown (see all 1170    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005379361,2
    C--6011848(+) TGCTGG/TTGTGT 1 -- ds50010--------
    rs60538771,2
    C,F,A,H,--6012117(+) GGAAAA/CAGTCA 1 -- ds500116Minor allele frequency- C:0.07NS EA WA CSA NA 2138
    rs1996112031,2
    C--6012388(-) TGTGAA/CAAAAA 1 -- ut310--------
    rs61170661,2
    C,F,A,H,--6012480(+) AAACAA/TAGTTG 1 -- ut3114Minor allele frequency- T:0.06NS EA NA WA CSA 809
    rs110877151,2
    C--6012720(+) GTATAA/-TACGG 1 -- ut312Minor allele frequency- -:0.00NA CSA 4
    rs61399081,2
    C,H--6012813(+) ACTTCT/CGAGCT 1 -- ut31 ese34Minor allele frequency- C:0.00NS EA 420
    rs1130966261,2
    --6013139(+) GTGGCA/CGAACA 1 -- ut312Minor allele frequency- C:0.02CSA WA 120
    rs1116450391,2
    --6013302(+) AGCACC/TGTCTC 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs81161771,2
    H--6013395(+) CCAAAG/ATCCTT 1 -- ut31 ese34Minor allele frequency- A:0.00NS EA 416
    rs412829561,2
    --6013421(+) GAGTCA/GTACCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FERMT1 (6055492 - 6104191 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FERMT1: --
    Human Gene Mutation Database (HGMD): FERMT1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FERMT1 for disorders           About GeneDecksing

    OMIM gene information: 607900   
    OMIM disorders: 173650  
    UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6
  • Defects in FERMT1 are the cause of Kindler syndrome (KINDS) [MIM:173650]. An autosomal recessive skin disorder
  • characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional
    clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an
    increased risk of mucocutaneous malignancy. Note=Although most FERMT1 mutations are predicted to lead to premature
    termination of translation, and to loss of FERMT1 function, significant clinical variability is observed among
    patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes,
    and later onset of complications (PubMed:21936020)

    10 diseases for FERMT1:    About MalaCards
    kindler syndrome    epidermolysis bullosa    skin atrophy    periodontitis
    periodontal disease    colon carcinoma    gingivitis    colon cancer
    carcinoma    prostatitis

    1 disease from the University of Copenhagen DISEASES database for FERMT1:
    Skin atrophy

    1 Novoseek disease relationship for FERMT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kindler syndrome 99.2 27 14962093 (2), 17955455 (2), 14987263 (2), 18528435 (2) (see all 16)

    Human Genome Epidemiology (HuGE) Navigator: FERMT1 (1 document)

    Export disorders for FERMT1 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 FERMT1 gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with FERMT1)
        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, 9 Weinstein E.J....Mazzarella R. (2003)
    2. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. (PubMed id 12789646)1, 2, 3, 9 Siegel D.H....Epstein E.H. (2003)
    3. Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. (PubMed id 17012746)1, 2, 9 Herz C....Has C. (2006)
    4. The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion. (PubMed id 14634021)1, 2, 9 Kloeker S....Beckerle M.C. (2004)
    5. The structure of the N-terminus of kindlin-1: a domain important for alphaIIbbeta3 integrin activation. (PubMed id 19804783)1, 2, 9 Goult B.T.... Critchley D.R. (2009)
    6. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. (PubMed id 12668616)1, 2, 9 Jobard F.... Fischer J. (2003)
    7. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. (PubMed id 21936020)1, 2 Has C....Bruckner-Tuderman L. (2011)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. (PubMed id 18528435)1, 9 Lai-Cheong J.E....McGrath J.A. (2008)
    10. Kindlin-1 Is required for RhoGTPase-mediated lamellip odia formation in keratinocytes. (PubMed id 19762715)1, 9 Has C....Bruckner-Tuderman L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 55612 HGNC: 15889 AceView: C20orf42 Ensembl:ENSG00000101311 euGenes: HUgn55612
    ECgene: FERMT1 H-InvDB: FERMT1

    (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 FERMT1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FERMT1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FERMT1 gene:
    Search GeneIP for patents involving FERMT1

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



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