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FKTN Gene

protein-coding   GIFtS: 54
GCID: GC09P108320

Fukutin

(Previous name: Fukuyama type congenital muscular dystrophy (fukutin))
(Previous symbol: FCMD)
  See FKTN-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
fukutin1 2     MDDGC42 5
FCMD1 2 3 5     Fukuyama Type Congenital Muscular Dystrophy (Fukutin)1
CMD1X2 5     Fukuyama Type Congenital Muscular Dystrophy Protein2
LGMD2M2 5     Patient Fukutin2
MDDGA42 5     EC 2.-.-.-3
MDDGB42 5     Fukuyama-Type Congenital Muscular Dystrophy Protein3

External Ids:    HGNC: 36221   Entrez Gene: 22182   Ensembl: ENSG000001066927   OMIM: 6074405   UniProtKB: O750723   

Export aliases for FKTN gene to outside databases

Previous GC identifers: GC09P107255 GC09P107361 GC09P077921


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FKTN Gene:
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi
compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded
protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene
are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle
muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript
variants have been found for this gene. (provided by RefSeq, Nov 2010)

GeneCards Summary for FKTN Gene:
FKTN (fukutin) is a protein-coding gene. Diseases associated with FKTN include fukuyama congenital muscular dystrophy, and cardiomyopathy, dilated, 1x. GO annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot: FKTN_HUMAN, O75072
Function: May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May
interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be
involved in brain development

Gene Wiki entry for FKTN (Fukutin) 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_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FKTN gene promoter:
         TBP   C/EBPbeta   AML1a   CREB   S8   FAC1   POU2F1   POU2F1a   deltaCREB   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFKTN promoter sequence
   Search Chromatin IP Primers for FKTN

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


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

Entrez Gene cytogenetic band: 9q31-q33   Ensembl cytogenetic band:  9q31.2   HGNC cytogenetic band: 9q31-q33

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P108320:  view genomic region     (about GC identifiers)

Start:
108,320,411 bp from pter      End:
108,403,399 bp from pter
Size:
82,989 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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: FKTN_HUMAN, O75072 (See protein sequence)
Recommended Name: Fukutin  
Size: 461 amino acids; 53724 Da
Secondary accessions: B4DUX9 J3KP13 Q3MIJ1 Q96TE1 Q9P295
Alternative splicing: 2 isoforms:  O75072-1   O75072-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FKTN: NX_O75072

Explore proteomics data for FKTN at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn92
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001073270.1  NP_001185892.1  NP_006722.2  

    ENSEMBL proteins: 
     ENSP00000473540   ENSP00000223528   ENSP00000399140   ENSP00000473347   ENSP00000363837  
     ENSP00000414114   ENSP00000350687   ENSP00000439423  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR007074 LicD
     IPR009644 Fukutin-related

    Graphical View of Domain Structure for InterPro Entry O75072

    ProtoNet protein and cluster: O75072

    UniProtKB/Swiss-Prot: FKTN_HUMAN, O75072
    Similarity: Belongs to the LicD transferase family


    Find genes that share domains with FKTN           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: FKTN_HUMAN, O75072
    Function: May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May
    interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be
    involved in brain development

         Enzyme Number (IUBMB): EC 2.-.-.-1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016740transferase activity IEA--
         
    Find genes that share ontologies with FKTN           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Fktn):
     behavior/neurological  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  other 

    Find genes that share phenotypes with FKTN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for FKTN: Fktntm1Ttd Fktntm1.2Kcam

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FKTN
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    miRTarBase miRNAs that target FKTN:
    hsa-mir-30d-5p (MIRT047823), hsa-mir-26b-5p (MIRT030086), hsa-mir-196a-5p (MIRT048207)

    Block miRNA regulation of human, mouse, rat FKTN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FKTN (see all 36):
    hsa-miR-582-3p hsa-miR-1245 hsa-miR-624* hsa-miR-342-3p hsa-miR-3916 hsa-miR-548m hsa-miR-9 hsa-miR-29a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FKTN_HUMAN, O75072: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum4
    extracellular4
    nucleus4
    mitochondrion2
    plasma membrane2
    cytoskeleton1
    cytosol1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005615extracellular space TAS9690476
    GO:0005634nucleus IDA18808525
    GO:0005783endoplasmic reticulum IDA18808525
    GO:0005794Golgi apparatus IDA18808525

    Find genes that share ontologies with FKTN           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FKTN
    Interactions:

        Search GeneGlobe Interaction Network for FKTN

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for FKTN (O750723 ENSP000002235284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CNBPP626333I2D: score=1 
    --ENSP000003038444STRING: ENSP00000303844
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development TAS9690476
    GO:0007517muscle organ development TAS9690476
    GO:0008285negative regulation of cell proliferation IMP18808525
    GO:0046329negative regulation of JNK cascade IMP18808525
    GO:0060049regulation of protein glycosylation NAS18808525

    Find genes that share ontologies with FKTN           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 FKTN

    1 Novoseek inferred chemical compound relationship for FKTN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 15 2 15614444 (1), 15021250 (1)



    Find genes that share compounds with FKTN           About GenesLikeMe



    (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 FKTN gene (3 alternative transcripts): 
    NM_001079802.1  NM_001198963.1  NM_006731.2  

    Unigene Cluster for FKTN:

    Fukutin
    Hs.55777  [show with all ESTs]
    Unigene Representative Sequence: NM_001079802
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000602661 ENST00000223528(uc011lvx.2 uc004bcr.3 uc004bcs.3 uc011lvy.2 uc010mtm.3)
    ENST00000448551 ENST00000490134 ENST00000479846 ENST00000602526 ENST00000374705
    ENST00000457847 ENST00000357998 ENST00000540160
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate FKTN (see all 36):
    hsa-miR-582-3p hsa-miR-1245 hsa-miR-624* hsa-miR-342-3p hsa-miR-3916 hsa-miR-548m hsa-miR-9 hsa-miR-29a*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiTect SYBR Green Assays in human, mouse, rat FKTN
      QuantiFast Probe-based Assays in human, mouse, rat FKTN

    Additional mRNA sequence: 

    AB008226.1 AB609007.1 AK300840.1 AK304460.1 BC058842.1 BC101808.1 BC112038.1 BC117699.1 
    BC117700.1 

    6 DOTS entries:

    DT.99990193  DT.121212012  DT.303596  DT.100736201  DT.91760283  DT.91895946 

    Selected AceView cDNA sequences (see all 67):

    BU172257 AA919153 NM_006731 BU072334 CA413178 W60550 BX955534 AI332523 
    W37098 CD723235 AB008226 N45012 BM469790 BE467704 AA082552 AA235981 
    CD723150 BX282647 BX508406 N41001 AI567556 AI014627 AI692397 AI290848 

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

    FKTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FKTN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.55777

    UniProtKB/Swiss-Prot: FKTN_HUMAN, O75072
    Tissue specificity: Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle.
    Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital
    dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical
    neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia
    limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the
    FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly
    undetectable in the overmigrated dysplastic region

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

    Orthologs for FKTN gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fktn1 , 5 fukutin1, 5 87.56(n)1
    89.8(a)1
      4 (28.74 cM)5
    2461791  NM_139309.41  NP_647470.11 
     537139985 
    chicken
    (Gallus gallus)
    Aves FKTN1 fukutin 72.96(n)
    72.89(a)
      427303  XM_004949355.1  XP_004949412.1 
    lizard
    (Anolis carolinensis)
    Reptilia FKTN6
    fukutin
    73(a)
    1 ↔ 1
    GL343218.1(1236438-1259315)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.157522 Xenopus laevis transcribed sequence with moderate similarity more 78.27(n)    AW638115.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fktn1 fukutin 59.52(n)
    57.11(a)
      100006345  NM_001042694.2  NP_001036159.2 
    worm
    (Caenorhabditis elegans)
    Secernentea W02B3.46
    T07D3.46
    (see all 8)
    Protein T07D3.4 (T07D3.4) mRNA, complete cds
    (see all 8)
    26(a)
    24(a)
    (see all 8)
    many → 1
    many → 1
    (see all 8)
    III(680634-683329) WBGene00020924
    II(888305-890709) WBGene00020307


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 FKTN (see all 1988)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0650534
    Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4)4--see VAR_0650532 R G mis40--------
    VAR_0650504
    Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4)4--see VAR_0650502 A T mis40--------
    VAR_0363354
    A breast cancer sample4--see VAR_0363352 D N mis40--------
    VAR_0650524
    Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4)4--see VAR_0650522 F S mis40--------
    VAR_0392874
    Cardiomyopathy, dilated 1X (CMD1X)4--see VAR_0392872 R T mis40--------
    VAR_0650514
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4)4--see VAR_0650512 A E mis40--------
    VAR_0182784
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4)4--see VAR_0182782 C G mis40--------
    VAR_0363344
    A breast cancer sample4--see VAR_0363342 D E mis40--------
    VAR_0650544
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4)4--see VAR_0650542 Y C mis40--------
    VAR_0392884
    Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4)4--see VAR_0392882 R Q mis40--------

    HapMap Linkage Disequilibrium report for FKTN (108320411 - 108403399 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for FKTN:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678852CNV Deletion23128226
    esv22929CNV Loss19812545
    esv5990CNV Gain19470904
    nsv519023CNV Gain19592680
    nsv893692CNV Gain21882294

    Human Gene Mutation Database (HGMD): FKTN
    Locus Specific Mutation Databases (LSDB): FKTN

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FKTN
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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.)
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    OMIM gene information: 607440   
    OMIM disorders: 253800  613152  611615  611588  
    UniProtKB/Swiss-Prot: FKTN_HUMAN, O75072
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]:
    An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone
    lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the
    first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe
    muscle-eye-brain disease. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) [MIM:613152]: An
    autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy.
    Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI,
    and absence of mental retardation. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]: An autosomal recessive
    degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and
    elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to
    corticosteroids. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, dilated 1X (CMD1X) [MIM:611615]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for FKTN:    
    About MalaCards
    fukuyama congenital muscular dystrophy    cardiomyopathy, dilated, 1x    limb-girdle muscular dystrophy type 2m    muscular dystrophy-dystroglycanopathy , type c, 4
    muscular dystrophy-dystroglycanopathy , type b, 4    muscular dystrophy-dystroglycanopathy , type a, 4    muscular dystrophy    fktn-related dilated cardiomyopathy
    fukuyama type muscular dystrophy    fktn-related muscle diseases    combined oxidative phosphorylation deficiency 8    congenital muscular dystrophy
    walker-warburg syndrome    muscular dystrophy-dystroglycanopathy , type a, 14    brain disease    muscular dystrophy-dystroglycanopathy
    muscular dystrophy-dystroglycanopathy , type a, 7    dilated cardiomyopathy    cardiomyopathy, dilated, 1w

    4 diseases from the University of Copenhagen DISEASES database for FKTN:
    Myopathy     Neuropathy     Lissencephaly     Intellectual disability

    Find genes that share disorders with FKTN           About GenesLikeMe

    Selected Novoseek inferred disease relationships for FKTN gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fukuyama congenital muscular dystrophy 98.2 37 18808525 (2), 12172906 (2), 17044012 (2), 19108571 (2) (see all 27)
    walker-warburg syndrome 97.2 14 8534509 (1), 12966029 (1), 15605948 (1), 19266496 (1) (see all 10)
    muscle-eye-brain disease 95.3 5 12966029 (1), 15605948 (1), 11592034 (1), 8737821 (1) (see all 5)
    mdc1c 94.7 5 12471058 (2), 12678490 (1), 12966029 (1), 18939472 (1)
    muscular dystrophies 94.1 34 15103718 (2), 10682317 (2), 17036286 (2), 8534509 (1) (see all 25)
    muscular dystrophy limb-girdle 81.7 5 19342235 (2), 15605948 (1), 19179078 (1)
    limb girdle 77 3 17036286 (2), 17044012 (1)
    eye abnormalities 76.2 1 12966029 (1)
    mental retardation 56.5 4 19015585 (1), 19342235 (1), 15893581 (1), 17036286 (1)
    muscular dystrophy becker 43.1 1 15103718 (1)

    GeneTests: FKTN
    GeneReviews: FKTN
    Genetic Association Database (GAD): FKTN
    Human Genome Epidemiology (HuGE) Navigator: FKTN (5 documents)

    Export disorders for FKTN 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

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    PubMed articles for FKTN gene, integrated from 10 sources (see all 108):
    (articles sorted by number of sources associating them with FKTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. (PubMed id 17036286)1, 2, 3, 9 Murakami T....Nishino I. (Ann. Neurol. 2006)
    2. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. (PubMed id 17044012)1, 2, 3, 9 Godfrey C.... Muntoni F. (Ann. Neurol. 2006)
    3. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 4, 9 Mercuri E.... Bertini E. (Neurology 2009)
    4. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. (PubMed id 10817652)1, 2, 9 Saito K.... Kaneko K. (Am. J. Med. Genet. 2000)
    5. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. (PubMed id 19342235)1, 2, 9 Puckett R.L.... Abdenur J.E. (Neuromuscul. Disord. 2009)
    6. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. (PubMed id 8275093)1, 3, 9 Toda T....Suzuki M [corrected to Sakai M.]. (Nat. Genet. 1993)
    7. Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. (PubMed id 11165248)1, 2, 9 Kobayashi K.... Toda T. (FEBS Lett. 2001)
    8. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. (PubMed id 19179078)1, 2, 9 Vuillaumier-Barrot S.... Seta N. (Neuromuscul. Disord. 2009)
    9. Neuronal expression of the fukutin gene. (PubMed id 11115853)1, 2, 9 Sasaki J.... Toda T. (Hum. Mol. Genet. 2000)
    10. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. (PubMed id 18177472)1, 2, 9 Cotarelo R.P.... Cruces J. (Clin. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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      Query String
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    OMIM
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      (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

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    Entrez Gene: 2218 HGNC: 3622 AceView: FCMD Ensembl:ENSG00000106692 euGenes: HUgn2218
    ECgene: FKTN H-InvDB: FKTN

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for FKTN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FKTN[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=FKTN

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

    GeneCards and IP:
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