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

FERMT1 Gene

protein-coding   GIFtS: 56
GCID: GC20M006055

Fermitin Family Member 1

(Previous names: chromosome 20 open reading frame 42, fermitin family homolog...)
(Previous symbol: C20orf42)
  See related diseases
at
MalaCards
 

Aliases
for FERMT1 gene

(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
Fermitin Family Member 11 2     kindlin-11
C20orf421 2 3 5     DTGCU22
KIND12 3 5     UNC112A2
URP12 3 5     Fermitin Family Homolog 12
Kindlin Syndrome Protein2 3     kindlerin2
Unc-112-Related Protein 12 3     Kindlin 12
Chromosome 20 Open Reading Frame 421     UNC112 Related Protein 12
Fermitin Family Homolog 1 (Drosophila)1     Kindlerin3
kinderlin1     Kindlin-13

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


Summaries
for FERMT1 gene

(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 Gene:
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)

GeneCards Summary for FERMT1 Gene: 
FERMT1 (fermitin family member 1) is a protein-coding gene. Diseases associated with FERMT1 include kindler syndrome, and hereditary acrokeratotic poikiloderma, weary type. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is FERMT2.

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) Gene


Genomic Views
for FERMT1 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_000020.10  NC_018931.2  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 plasmid: FERMT1 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

Proteins
for FERMT1 gene

(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: 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

Explore proteomics data for FERMT1 at MOPED 

Post-translational modifications:

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

    • FERMT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FERMT1 Protein Expression
    REFSEQ proteins: NP_060141.3  
    ENSEMBL proteins: 
     ENSP00000217289   ENSP00000368121   ENSP00000441063  

    Human Recombinant Protein Products for FERMT1: 
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    Novus Biologicals FERMT1 Lysates
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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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    Protein Domains /
    Families
    for FERMT1 gene

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

    5/6 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 Q9BQL6

    ProtoNet protein and cluster: Q9BQL6

    1 Blocks protein domain: 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


    FERMT1 for domains           About GeneDecksing


    Function
    for FERMT1 gene

    (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: 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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
         
    FERMT1 for ontologies           About GeneDecksing


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

         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

    Animal Models:
         MGI mouse knock-out Fermt1tm1Ref for FERMT1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FERMT1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FERMT1 
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    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate FERMT1 (see all 9):
    hsa-miR-607 hsa-miR-548o hsa-miR-597 hsa-miR-507 hsa-miR-373* hsa-miR-661 hsa-miR-1323 hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmid: FERMT1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Pathways & Interactions
    for FERMT1 gene

    (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 FERMT1

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

    5/820 Interacting proteins for FERMT1 (Q9BQL62, 3 ENSP000002172894) via UniProtKB, MINT, STRING, and/or I2D (see all 820)
    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



    Drugs & Compounds
    for FERMT1 gene

    (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 FERMT1 (FERM1)

    Search CenterWatch for drugs/clinical trials and news about FERMT1 / FERM1

    Transcripts
    for FERMT1 gene

    (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 FERMT1 gene: 
    NM_017671.4  

    Unigene Cluster for FERMT1:

    Fermitin family member 1
    Hs.472054  [show with all ESTs]
    Unigene Representative Sequence: AB105105
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478194(uc002wmq.3) ENST00000217289(uc002wmr.3 uc010gbt.3 uc002wms.3)
    ENST00000378844 ENST00000536936
    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate FERMT1 (see all 9):
    hsa-miR-607 hsa-miR-548o hsa-miR-597 hsa-miR-507 hsa-miR-373* hsa-miR-661 hsa-miR-1323 hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmid: FERMT1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional mRNA 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):

    BF513564 AI199117 CB147987 AB105105 AA348346 NM_017671 AF443278 BF802635 
    AI359970 CB153128 AW136973 BF591031 AY137240 AW193135 BF222639 BG910397 
    AI569012 BX647465 AI631409 AK025365 AI582824 BM068737 AA551754 AW149688 

    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

    Expression
    for FERMT1 gene

    (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 <intensity>2/3
    CGAP TAG: ACACACAGCA
    FERMT1 Expression
    About this image


    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
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    Orthologs
    for FERMT1 gene

    (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 7/15 species (see all 15)    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
    		 Uncharacterized protein
    		 77(a)
    		 1 ↔ 1
    		 1(136751313-136788919)
    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
    		 39(a)
    		 1 → many
    		 V(14691852-14696933)


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

    Paralogs
    for FERMT1 gene

    (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



    Genomic Variants
    for FERMT1 gene

    (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

    10/1402 SNPs in FERMT1 are shown (see all 1402)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 20 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0669434
    		Kindler syndrome (KINDS)4--see VAR_0669432 S P mis40--------
    VAR_0669444
    		Kindler syndrome (KINDS)4--see VAR_0669442 W R mis40--------
    rs1219182931,2
    		Cpathogenic16035841(-) TCTTAC/TGATTT 2 R * stg10--------
    rs61170651,2
    		C,F,A,H--6002664(+) CCTCTA/GTGGGC 1 -- ds500127Minor allele frequency- N:0.00NS EA NA CSA WA 2974
    rs1177785461,2
    		C,F--6002775(+) ATTGCC/TGCTGG 1 -- ds50011Minor allele frequency- T:0.03EA 120
    rs2005379361,2
    		C--6002797(+) TGCTGG/TTGTGT 1 -- ds50010--------
    rs1898510361,2
    		--6003005(+) CTTGGC/TGCTGT 1 -- ds50010--------
    rs60538771,2
    		C,F,A,H--6003067(+) GGAAAA/CAGTCA 1 -- ds500116Minor allele frequency- C:0.07NS EA WA CSA NA 2138
    rs2019274261,2
    		--6003275(+) GTATT-/AAAAAA 1 -- ut310--------
    rs1399900901,2
    		C--6003318(+) TTAGG-/TTTTTGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FERMT1 (6055492 - 6104191 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FERMT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv270117CNV Insertion20981092
    nsv518036CNV Loss19592680
    nsv912647CNV Loss21882294
    nsv912648CNV Gain21882294


    Human Gene Mutation Database (HGMD): FERMT1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FERMT1
    DNA2.0 Custom Variant and Variant Library Synthesis for FERMT1

    Disorders / Diseases
    for FERMT1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 607900   
    OMIM disorders: 173650  
    UniProtKB/Swiss-Prot: FERM1_HUMAN, Q9BQL6
  • Kindler syndrome (KINDS) [MIM:173650]: 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=The disease is caused by mutations affecting the gene represented in this
    entry. 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)

    • 11 diseases for FERMT1:    About MalaCards
    kindler syndrome    hereditary acrokeratotic poikiloderma, weary type    skin atrophy    epidermolysis bullosa
    periodontal disease    periodontitis    gingivitis    colon cancer
    esophagitis    endotheliitis    prostatitis

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

    FERMT1 for disorders           About GeneDecksing

    1 Novoseek inferred 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)

    Genetic Association Database (GAD): FERMT1
    Human Genome Epidemiology (HuGE) Navigator: FERMT1 (1 document)

    Export disorders for FERMT1 gene to outside databases

    Publications
    for FERMT1 gene

    (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 61):
    (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)

    External Searches for FERMT1 gene

    (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)

    Genome Databases showing FERMT1 gene

    (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

    Other Databases showing FERMT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FERMT1 gene

    (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

    Intellectual Property
    for FERMT1 gene

    (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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    About This Section

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