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

FKRP Gene

protein-coding   GIFtS: 50
GCID: GC19P047249

Fukutin Related Protein

  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
Fukutin Related Protein1 2     MDDGB52 5
LGMD2I2 5     MDDGC52 5
MDC1C2 5     Fukutin-Related Protein2
MDDGA52 5     EC 2.-.-.-3

External Ids:    HGNC: 179971   Entrez Gene: 791472   Ensembl: ENSG000001810277   OMIM: 6065965   UniProtKB: Q9H9S53   

Export aliases for FKRP gene to outside databases

Previous GC identifers: GC19P047893 GC19P047640 GC19P051925 GC19P051941 GC19P043674


(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 FKRP Gene:
This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational
modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy,
mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have
been described, but the full-length nature of some of these variants has not been determined. (provided by
RefSeq, Oct 2008)

GeneCards Summary for FKRP Gene: 
FKRP (fukutin related protein) is a protein-coding gene. Diseases associated with FKRP include limb-girdle muscular dystrophy type 2i, and muscular dystrophy-dystroglycanopathy. GO annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5
Function: Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1)




(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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FKRP gene promoter:
         HOXA9B   E2F-4   E2F-3a   E2F-5   E2F-2   Roaz   E2F   E2F-1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFKRP promoter sequence
   Search SABiosciences Chromatin IP Primers for FKRP

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


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

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.32

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P047249:  view genomic region     (about GC identifiers)

Start:
47,249,303 bp from pter      End:
47,280,245 bp from pter
Size:
30,943 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: FKRP_HUMAN, Q9H9S5 (See protein sequence)
Recommended Name: Fukutin-related protein  
Size: 495 amino acids; 54568 Da
Subunit: May interact with the dystrophin-glycoprotein complex (DGC) (By similarity). Homodimer; disulfide-linked.
Exists also as large multimeric protein complexes
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membrane,
sarcolemma (By similarity). Rough endoplasmic reticulum. Note=According to some studies the N-terminal
hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted.
Localization at the cell membrane may require the presence of dystroglycan. At the Golgi apparatus localizes to
the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in
myocytes. In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic
reticulum
Secondary accessions: A8K5G7

Explore the universe of human proteins at neXtProt for FKRP: NX_Q9H9S5

Explore proteomics data for FKRP at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View neXtProt modification sites for NX_Q9H9S5

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

    FKRP Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001034974.1  NP_077277.1  

    ENSEMBL proteins: 
     ENSP00000470103   ENSP00000326570   ENSP00000470929   ENSP00000471088   ENSP00000472370  
     ENSP00000470297   ENSP00000375776   ENSP00000472807   ENSP00000471573   ENSP00000470096  
     ENSP00000472981   ENSP00000471209   ENSP00000468825   ENSP00000470335   ENSP00000471971  
     ENSP00000469373   ENSP00000470024   ENSP00000472850   ENSP00000470901  

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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for FKRP 

    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 IDA19900540
    GO:0005791rough endoplasmic reticulum IDA15213246
    GO:0005794Golgi apparatus IDA19900540
    GO:0016010dystrophin-associated glycoprotein complex IEA--

    FKRP 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
    1 InterPro protein domain:
     IPR007074 LicD

    Graphical View of Domain Structure for InterPro Entry Q9H9S5

    ProtoNet protein and cluster: Q9H9S5

    UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5
    Similarity: Belongs to the LicD transferase family


    FKRP 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: FKRP_HUMAN, Q9H9S5
    Function: Could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1)

         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--
         
    FKRP for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Fkrp):
     behavior/neurological  cellular  craniofacial  growth/size  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  normal  skeleton 
     vision/eye 

    FKRP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FKRP 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FKRP 
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FKRP
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate FKRP:
    hsa-miR-3176 hsa-miR-3922-3p hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidFKRP 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKRP


    (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 FKRP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/19 Interacting proteins for FKRP (ENSP000003265704) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAV3ENSP000003419404STRING: ENSP00000341940
    DAG1ENSP000003124354STRING: ENSP00000312435
    DMDENSP000003549234STRING: ENSP00000354923
    KCNJ10ENSP000003570684STRING: ENSP00000357068
    KRT19ENSP000003551244STRING: ENSP00000355124
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009101glycoprotein biosynthetic process IEA--
    GO:0016485protein processing IEA--

    FKRP 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

    FKRP for compounds           About GeneDecksing

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

    Browse Tocris compounds for FKRP

    1 Novoseek inferred chemical compound relationship for FKRP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 19.5 1 11592034 (1)

    Search CenterWatch for drugs/clinical trials and news about FKRP

    (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 FKRP gene (2 alternative transcripts): 
    NM_001039885.2  NM_024301.4  

    Unigene Cluster for FKRP:

    Fukutin related protein
    Hs.515493  [show with all ESTs]
    Unigene Representative Sequence: NM_001039885
    18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000596974 ENST00000601299 ENST00000318584(uc002pfn.2) ENST00000595570
    ENST00000593995 ENST00000600977 ENST00000598271 ENST00000597313 ENST00000593875
    ENST00000391909(uc002pfp.2) ENST00000600646 ENST00000600681 ENST00000600872
    ENST00000602250 ENST00000595868 ENST00000600629 ENST00000602181 ENST00000593800

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate FKRP:
    hsa-miR-3176 hsa-miR-3922-3p hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidFKRP 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Additional mRNA sequence: 

    AJ314847.1 AK022638.1 AK095497.1 AK291282.1 BC002612.2 

    12 DOTS entries:

    DT.310587  DT.99932537  DT.91676889  DT.100033621  DT.121479909  DT.121479810  DT.99960293  DT.121480194 
    DT.91676879  DT.121480074  DT.99936910  DT.121479918 

    24/76 AceView cDNA sequences (see all 76):

    BC002612 AI659786 AK022638 AU125096 D45534 CA774476 AW291054 AI342833 
    AI261680 AI399710 BQ925163 CK902853 BU623211 AW182917 BM468881 BQ022418 
    AJ314847 CK902852 BQ636316 AK095497 AA679692 NM_024301 AL711181 CA424473 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for FKRP (see all 17)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h · 10i · 10j · 10k · 10l · 10m
    SP1:        -                 -                       -     -     -     -                                                                                 
    SP2:        -     -     -     -                       -           -     -                                                                                 
    SP3:        -           -     -                       -     -     -     -                                                                                 
    SP4:        -                 -                             -     -     -                                                                                 
    SP5:        -                 -                             -                                                                                             


    ECgene alternative splicing isoforms for FKRP

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.515493

    UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5
    Tissue specificity: Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in
    brain, lung, liver kidney and pancreas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKRP

    (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 FKRP gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fkrp1 , 5 fukutin related protein1, 5 87.02(n)1
    94.12(a)1
      7 (9.15 cM)5
    2438531  NM_173430.21  NP_775606.11 
     168092705 
    lizard
    (Anolis carolinensis)
    Reptilia FKRP6
    Uncharacterized protein
    62(a)
    1 ↔ 1
    GL343566.1(361981-363498)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.196992 Transcribed sequence with weak similarity to protein refNP_077277.1 (H.sapiens) fukutin-related protein [Homo sapiens] less 72.3(n)    BX782386.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fkrp1 fukutin related protein 59.86(n)
    61.03(a)
      571426  NM_001089490.1  NP_001082959.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG156511 CG15651 45.91(n)
    28.14(a)
      37375  NM_137687.2  NP_611531.2 


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

    10/314 SNPs in FKRP are shown (see all 314)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0228524
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5)4--see VAR_0228522 C Y mis40--------
    VAR_0650594
    Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)4--see VAR_0650592 T I mis40--------
    VAR_0182914
    Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)4--see VAR_0182912 R L mis40--------
    VAR_0650564
    Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)4--see VAR_0650562 R W mis40--------
    VAR_0650574
    Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)4--see VAR_0650572 V F mis40--------
    VAR_0650604
    Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)4--see VAR_0650602 V A mis40--------
    VAR_0182954
    Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5)4--see VAR_0182952 Y S mis40--------
    VAR_0650614
    Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)4--see VAR_0650612 V M mis40--------
    VAR_0228534
    Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)4--see VAR_0228532 D N mis40--------
    VAR_0182874
    Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)4--see VAR_0182872 R C mis40--------

    HapMap Linkage Disequilibrium report for FKRP (47249303 - 47280245 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FKRP:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1341540CNV Insertion17803354
    nsv833850CNV Loss17160897
    dgv3961n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): FKRP

    Locus Specific Mutation Databases (LSDB): FKRP
    SABiosciences Cancer Mutation PCR Assays
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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: 606596   
    OMIM disorders: 613153  606612  607155  
    UniProtKB/Swiss-Prot: FKRP_HUMAN, Q9H9S5
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) [MIM:613153]:
    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 with or without mental retardation B5 (MDDGB5)
    [MIM:606612]: A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle
    hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked
    reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) [MIM:607155]: An autosomal recessive
    degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical
    features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory
    insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal
    muscle biopsy from MDDGC5 patients. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 20/21 diseases for FKRP (see all 21):    About MalaCards
    limb-girdle muscular dystrophy type 2i    muscular dystrophy-dystroglycanopathy    fkrp-related muscle diseases    muscle eye brain disease
    brain disease    congenital muscular dystrophy    walker-warburg syndrome    becker muscular dystrophy
    limb-girdle muscular dystrophy    cleft lip +/- cleft palate    muscular dystrophy    cleft palate
    lissencephaly    respiratory failure    mental retardation    neuromuscular disease
    dilated cardiomyopathy    cleft lip    intellectual disability    myopathy

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

    FKRP for disorders           About GeneDecksing

    10/25 Novoseek inferred disease relationships for FKRP gene (see all 25)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lgmd2i 99.4 72 16288869 (4), 14523375 (3), 18645206 (3), 15580560 (3) (see all 33)
    mdc1c 98.9 36 16288869 (4), 11741828 (3), 12471058 (3), 14523375 (2) (see all 14)
    walker-warburg syndrome 95.6 9 12966029 (1), 17554798 (1), 15121789 (1), 15773323 (1) (see all 6)
    muscle-eye-brain disease 94.3 6 12966029 (1), 17554798 (1), 15121789 (1), 19900540 (1)
    muscular dystrophy limb-girdle 93.5 21 12678490 (1), 14967765 (1), 14652796 (1), 15726252 (1) (see all 15)
    muscular dystrophies 93.3 79 16476814 (4), 19955119 (4), 14652796 (3), 19155270 (3) (see all 28)
    limb girdle 91.5 15 19155270 (1), 11741828 (1), 16055117 (1), 12654965 (1) (see all 8)
    lgmd2h 90 4 14959561 (1), 15316618 (1)
    lgmd2f 88.6 4 14959561 (1), 15316618 (1)
    lgmd1c 87.9 3 15316618 (1), 14647208 (1)

    Genetic Association Database (GAD): FKRP
    Human Genome Epidemiology (HuGE) Navigator: FKRP (4 documents)

    Export disorders for FKRP 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 FKRP gene, integrated from 9 sources (see all 102):
    (articles sorted by number of sources associating them with FKRP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. (PubMed id 14652796)1, 2, 4, 9 Louhichi N....Fakhfakh F. (2004)
    2. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. (PubMed id 11592034)1, 2, 3, 9 Brockington M.... Muntoni F. (2001)
    3. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. (PubMed id 11741828)1, 2, 3, 9 Brockington M....Muntoni F. (2001)
    4. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. (PubMed id 14523375)1, 2, 9 Harel T.... Birk O.S. (2004)
    5. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. (PubMed id 12654965)1, 2, 9 Topaloglu H.... Muntoni F. (2003)
    6. Subcellular localization of fukutin and fukutin-related protein in muscle cells. (PubMed id 15213246)1, 2, 9 Matsumoto H....Nishino I. (2004)
    7. Mutations alter secretion of fukutin-related protein. (PubMed id 19900540)1, 2, 9 Lu P.J....Lu Q.L. (2010)
    8. A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. (PubMed id 17336067)1, 2, 9 MacLeod H....McNally E.M. (2007)
    9. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PubMed id 19299310)1, 4, 9 Mercuri E....Bertini E. (2009)
    10. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (PubMed id 15121789)1, 2, 9 Beltran-Valero de Bernabe D....Muntoni F. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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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: 79147 HGNC: 17997 AceView: FKRP Ensembl:ENSG00000181027 euGenes: HUgn79147
    ECgene: FKRP H-InvDB: FKRP

    (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 FKRP Pharmacogenomics, SNPs, Pathways
    LEIDEN Muscular Dystrophy page for FKRP Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FKRP
    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 FKRP gene:
    Search GeneIP for patents involving FKRP

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



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