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

FKTN Gene

protein-coding   GIFtS: 53
GCID: GC09P108320

Fukutin

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 muscular dystrophy, and congenital muscular dystrophy. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for FKTN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: FKTN_HUMAN, O75072 (See protein sequence)
Recommended Name: Fukutin  
Size: 461 amino acids; 53724 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75072

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

    FKTN Protein Expression
    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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    Cloud-Clone Corp. Proteins for FKTN 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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

    FKTN for ontologies           About GeneDecksing



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


    FKTN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016740transferase activity IEA--
         
    FKTN for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Fktn):
     behavior/neurological  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  other 

    FKTN for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FKTN 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FKTN 
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    miRNA
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    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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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of FKTN

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for 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 (GO ID links to tree view):    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

    FKTN for ontologies           About GeneDecksing



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

    FKTN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about FKTN

    (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 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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    8/36 QIAGEN miScript miRNA 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
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FKTN
      QIAGEN 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 

    24/67 AceView cDNA sequences (see all 67):

    AA919153 BX282647 AB008226 N45012 BE467704 AA235981 BM469790 CD723235 
    NM_006731 W37098 AI332523 CA413178 BX955534 W60550 BU172257 BU072334 
    CD723150 AA082552 BU854660 AI014627 AI075448 BP354825 AI376914 CB052041 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


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

    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FKTN gene from 6/15 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_424885.3  XP_424885.3 
    lizard
    (Anolis carolinensis)
    Reptilia FKTN6
    Uncharacterized protein
    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 59.45(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
    (see all 8)
    24(a)
    22(a)
    (see all 8)
    many → 1
    many → 1
    (see all 8)
    III(680634-683329)
    II(888305-890709)


    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)
    About This Section
      --

    (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

    10/1988 SNPs in FKTN are shown (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
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    (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: 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

  • 20/31 diseases for FKTN (see all 31):    About MalaCards
    muscular dystrophy    congenital muscular dystrophy    fukuyama congenital muscular dystrophy    limb-girdle muscular dystrophy type 2m
    fktn-related dilated cardiomyopathy    fukuyama type muscular dystrophy    fktn-related muscle diseases    walker-warburg syndrome
    dubowitz syndrome    muscular dystrophy-dystroglycanopathy    muscle eye brain disease    brain disease
    neuronal migration disorders    dilated cardiomyopathy    cleft lip +/- cleft palate    limb-girdle muscular dystrophy
    retinal detachment    cleft palate    lissencephaly    neuromuscular disease

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

    FKTN for disorders           About GeneDecksing

    10/13 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

    PubMed articles for FKTN gene, integrated from 9 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. (2006)
    2. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. (PubMed id 17044012)1, 2, 3, 9 Godfrey C.... Muntoni F. (2006)
    3. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 4, 9 Mercuri E....Bertini E. (2009)
    4. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. (PubMed id 10817652)1, 2, 9 Saito K.... Kaneko K. (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. (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. (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. (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. (2009)
    9. Neuronal expression of the fukutin gene. (PubMed id 11115853)1, 2, 9 Sasaki J.... Toda T. (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. (2008)

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

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

    (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 FKTN Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FKTN
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

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

    GeneCards and IP:
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