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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)
 Explore 28 diseases affiliated with
FKTN via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FKTN    

Aliases
for FKTN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Fukutin1     MDDGC42 5
FCMD1 2 3 5     Fukuyama Type Congenital Muscular Dystrophy (Fukutin)1
LGMD2M1 2 5     Fukuyama Type Congenital Muscular Dystrophy Protein2
CMD1X2 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


Summaries
for FKTN 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 FKTN:
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)

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)


Genomic Views
for FKTN 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
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 plasmid: FKTN 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

Proteins
for FKTN gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75072

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

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

    ENSEMBL proteins: 
     ENSP00000223528   ENSP00000399140   ENSP00000363837   ENSP00000414114   ENSP00000350687  
     ENSP00000439423  

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    Novus Biologicals FKTN Protein
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    Uscn 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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    Protein Domains /
    Families
    for FKTN gene

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

    2 InterPro domains/families:
     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


    Function
    for FKTN gene

    (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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FKTN
    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*
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    Inhib. RNA
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    OriGene shRNA RFP: FKTN
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    Gene Editing
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    Clone
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    In Situ Assay
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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:0016740transferase activity IEA--


    FKTN for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for FKTN gene

    (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 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



    Drugs & Compounds
    for FKTN gene

    (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

    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 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 

    Transcripts
    for FKTN gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000223528(uc011lvx.2 uc004bcr.3 uc004bcs.3 uc011lvy.2 uc010mtm.3)
    ENST00000448551 ENST00000490134 ENST00000479846 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
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FKTN (see all 4)
    OriGene shRNA RFP: FKTN
    OriGene siRNA: FKTN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FKTN
    Clone
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    Primer
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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 cDNA 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 BU072334 BX955534 AA235981 AI332523 BE467704 NM_006731 BU172257 
    W37098 BX282647 CA413178 BM469790 CD723150 CD723235 N45012 AB008226 
    AA082552 W60550 AI567556 BF195958 BX508406 BX498602 AL601876 AI014627 

    GeneLoc Exon Structure


    Expression
    for FKTN 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

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

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

    FKTN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEndocardiumCushion Mesenchymal CellsEndocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for FKTN 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 FKTN gene from 6/18 species (see all 18)    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
    		 --
    		 73(a)
    		 1 ↔ 1
    		 GL343218.1(1241661-1259219)
    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 W02B3.76
    W02B3.46
    (see all 9)    		 Uncharacterized protein W02B3.4
    (see all 9)    		 23(a)
    21(a)
    (see all 9)    		 many → 1
    many → 1
    (see all 9)    		 III(691171-691812)
    III(680629-683324)


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

    Paralogs
    for FKTN gene

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

    Genomic Variants
    for FKTN gene

    (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

    10/1692 NCBI SNPs in FKTN are shown (see all 1692)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1194649981,2
    		Cpathogenic100775772(+) CTTCTA/GTGAAG 6 Y C mis11Minor allele frequency- G:0.00NA 4536
    rs413133011,2
    		C,F,probable-non-pathogenic100760504(+) AACCCA/GATGGA 5 N D mis1 int15Minor allele frequency- G:0.01NA EU 5997
    rs1419184321,2
    		C,F,probable-non-pathogenic100760543(+) TAAAGA/GCGTGG 5 T A int1 mis12Minor allele frequency- G:0.00NA EU 5873
    rs1469679181,2
    		Cprobable-non-pathogenic100777702(+) CTTCCG/ACTCAA 6 /P syn11Minor allele frequency- A:0.00NA 4278
    rs340066751,2
    		C,F,unknown100791560(+) AGGAAG/AGCTGG 6 /S /G mis111Minor allele frequency- A:0.03NA NS EA WA EU 6479
    rs412777951,2
    		C,F,unknown100794639(+) CTCTCA/GAACAG 3 -- int12Minor allele frequency- G:0.01NA EU 1191
    rs762497461,2
    		F,--77919885(+) AAGTAT/CGCTAT 3 -- us2k11Minor allele frequency- C:0.03WA 118
    rs761775881,2
    		F,--77920320(+) CAAATT/GTAGTG 3 -- us2k11Minor allele frequency- G:0.03WA 118
    rs768391471,2
    		F,--77920441(+) GAGTTA/GCAAAA 3 -- us2k11Minor allele frequency- G:0.03WA 118
    rs25181151,2
    		C,F,H,--77920533(+) GAAAGG/ACAGGA 3 -- us2k18Minor allele frequency- A:0.02NS NA 1072

    HapMap Linkage Disequilibrium report for FKTN (108320411 - 108403399 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for FKTN
         7 Indels: 83135 96232 60763 96234 65483 83136 96233
    Human Gene Mutation Database (HGMD): FKTN

    Locus Specific Mutation Databases (LSDB): FKTN

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FKTN
    DNA2.0 Custom Variant and Variant Library Synthesis for FKTN

    Disorders / Diseases
    for FKTN gene

    (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
    FKTN for disorders           About GeneDecksing

    OMIM gene information: 607440   
    OMIM disorders: 253800  613152  611615  611588  
    UniProtKB/Swiss-Prot: FKTN_HUMAN, O75072
  • Defects in FKTN are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies
    • type A4 (MDDGA4) [MIM:253800]; also called congenital muscular dystrophy Fukuyama type (FCMD) or Walker-Warburg
    syndrome FKTN-related. MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy
    associated with cobblestone lissencephaly and other brain anomalies. Patients suffer from generalized skeletal muscle
    weakness and hypotonia from early infancy, mental retardation and seizures. Occasional features include optic atrophy,
    retinal detachment, cardiomyopathy
  • Defects in FKTN are the cause of muscular dystrophy-dystroglycanopathy congenital without mental retardation
    • type 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 in some cases, and absence of mental retardation
  • Defects in FKTN are the cause of muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4)
    • [MIM:611588]. MDDGC4 is an autosomal recessive degenerative myopathy characterized by progressive weakness of the
    pelvic and shoulder girdle muscles and elevated serum creatine kinase. The severity of the disease depends on age at
    onset which may vary from early to late childhood or even adulthood. MDDGC4 is a novel form of LGMD2 and has no brain
    involvement and a remarkable clinical response to corticosteroids
  • Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]; also called dilated
    • cardiomyopathy with mild or no proximal muscle weakness. Dilated cardiomyopathy is a disorder characterized by
    ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients
    are at risk of premature death

    20/28 diseases for FKTN (see all 28):    About MalaCards
    limb-girdle muscular dystrophy type 2m    muscular dystrophy    congenital muscular dystrophy    limb-girdle muscular dystrophy
    walker-warburg syndrome    muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4    muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4    muscular dystrophy-dystroglycanopathy
    dilated cardiomyopathy    muscle-eye-brain disease    fukuyama congenital muscular dystrophy    cardiomyopathy
    cleft lip +/- cleft palate    cleft lip    cleft palate    neuronal migration disorders
    dubowitz syndrome    retinal detachment    intellectual disability    optic atrophy

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

    10/13 Novoseek 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
    Fukuyama Congenital Muscular Dystrophy

    Human Genome Epidemiology (HuGE) Navigator: FKTN (5 documents)

    Export disorders for FKTN gene to outside databases

    Publications
    for FKTN 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 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. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. (PubMed id 10817652)1, 2, 9 Saito K.... Kaneko K. (2000)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. Neuronal expression of the fukutin gene. (PubMed id 11115853)1, 2, 9 Sasaki J.... Toda T. (2000)
    9. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 2, 9 Mercuri E....Bertini E. (2009)
    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)

    External Searches for FKTN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    Genome Databases showing FKTN gene

    (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

    Other Databases showing FKTN gene

    (According to HUGE)
    About This Section
    		   --

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

    Intellectual Property
    for FKTN gene

    (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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