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Aliases for FKTN Gene

Aliases for FKTN Gene

  • Fukutin 2 3
  • FCMD 3 4 6
  • LGMD2M 3 6
  • MDDGA4 3 6
  • MDDGB4 3 6
  • MDDGC4 3 6
  • CMD1X 3 6
  • Fukuyama Type Congenital Muscular Dystrophy (Fukutin) 2
  • Fukuyama Type Congenital Muscular Dystrophy Protein 3
  • Fukuyama-Type Congenital Muscular Dystrophy Protein 4
  • Patient Fukutin 3
  • EC 2.-.-.- 4

External Ids for FKTN Gene

Previous HGNC Symbols for FKTN Gene

  • FCMD

Previous GeneCards Identifiers for FKTN Gene

  • GC09P107255
  • GC09P107361
  • GC09P108320
  • GC09P077921

Summaries for FKTN Gene

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-dystroglycanopathy , type a, 4 and muscular dystrophy-dystroglycanopathy , type b, 4. GO annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot for FKTN Gene

  • Glycosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKTN Gene

Genomics for FKTN Gene

Regulatory Elements for FKTN Gene

Genomic Location for FKTN Gene

Start:
105,558,130 bp from pter
End:
105,641,118 bp from pter
Size:
82,989 bases
Orientation:
Plus strand

Genomic View for FKTN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FKTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKTN Gene

Proteins for FKTN Gene

  • Protein details for FKTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75072-FKTN_HUMAN
    Recommended name:
    Fukutin
    Protein Accession:
    O75072
    Secondary Accessions:
    • B4DUX9
    • J3KP13
    • Q3MIJ1
    • Q96TE1
    • Q9P295

    Protein attributes for FKTN Gene

    Size:
    461 amino acids
    Molecular mass:
    53724 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FKTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FKTN Gene

Proteomics data for FKTN Gene at MOPED

Post-translational modifications for FKTN Gene

  • Glycosylation at Asn92
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FKTN Gene

Domains for FKTN Gene

Protein Domains for FKTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FKTN Gene

Graphical View of Domain Structure for InterPro Entry

O75072

UniProtKB/Swiss-Prot:

FKTN_HUMAN :
  • O75072
Family:
  • Belongs to the LicD transferase family.
genes like me logo Genes that share domains with FKTN: view

No data available for Gene Families for FKTN Gene

Function for FKTN Gene

Molecular function for FKTN Gene

UniProtKB/Swiss-Prot Function: Glycosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development.

Enzyme Numbers (IUBMB) for FKTN Gene

Gene Ontology (GO) - Molecular Function for FKTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with FKTN: view
genes like me logo Genes that share phenotypes with FKTN: view

Animal Models for FKTN Gene

MGI Knock Outs for FKTN:

miRNA for FKTN Gene

No data available for Transcription Factor Targeting and HOMER Transcription for FKTN Gene

Localization for FKTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKTN Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FKTN Gene COMPARTMENTS Subcellular localization image for FKTN gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 4
extracellular 4
nucleus 4
mitochondrion 2
plasma membrane 2
cytoskeleton 1
cytosol 1

Gene Ontology (GO) - Cellular Components for FKTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005615 extracellular space TAS 9690476
GO:0005634 nucleus IDA 18808525
GO:0005783 endoplasmic reticulum IDA 18808525
GO:0005794 Golgi apparatus IDA 18808525
genes like me logo Genes that share ontologies with FKTN: view

Pathways for FKTN Gene

SuperPathways for FKTN Gene

No Data Available

UniProtKB/Swiss-Prot O75072-FKTN_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for FKTN Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000223528%0d%0a9606.ENSP00000410769%0d%0a
Selected Interacting proteins: ENSP00000223528 O75072-FKTN_HUMAN for FKTN Gene via STRING I2D

Gene Ontology (GO) - Biological Process for FKTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development TAS 9690476
GO:0007517 muscle organ development TAS 9690476
GO:0008152 metabolic process --
GO:0008285 negative regulation of cell proliferation IMP 18808525
GO:0035269 protein O-linked mannosylation IMP 25279699
genes like me logo Genes that share ontologies with FKTN: view

No data available for Pathways by source for FKTN Gene

Compounds for FKTN Gene

(1) Novoseek inferred chemical compound relationships for FKTN Gene

Compound -log(P) Hits PubMed IDs
mannose 15 2
genes like me logo Genes that share compounds with FKTN: view

Transcripts for FKTN Gene

Unigene Clusters for FKTN Gene

Fukutin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FKTN Gene

No ASD Table

Relevant External Links for FKTN Gene

GeneLoc Exon Structure for
FKTN
ECgene alternative splicing isoforms for
FKTN

Expression for FKTN Gene

mRNA expression in normal human tissues for FKTN Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FKTN Gene

SOURCE GeneReport for Unigene cluster for FKTN Gene Hs.55777

mRNA Expression by UniProt/SwissProt for FKTN Gene

O75072-FKTN_HUMAN
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.
genes like me logo Genes that share expressions with FKTN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FKTN Gene

Orthologs for FKTN Gene

This gene was present in the common ancestor of animals.

Orthologs for FKTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKTN 35
  • 99.49 (n)
  • 99.35 (a)
FKTN 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FKTN 36
  • 91 (a)
OneToOne
LOC536891 35
  • 90.89 (n)
  • 91.11 (a)
dog
(Canis familiaris)
Mammalia FKTN 35
  • 92.84 (n)
  • 93.49 (a)
FKTN 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fktn 35
  • 87.56 (n)
  • 89.8 (a)
Fktn 16
Fktn 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FKTN 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FKTN 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fktn 35
  • 85.76 (n)
  • 89.37 (a)
chicken
(Gallus gallus)
Aves FKTN 35
  • 72.96 (n)
  • 72.89 (a)
FKTN 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FKTN 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15752 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fktn 35
  • 68.84 (n)
  • 67.39 (a)
Str.19568 35
zebrafish
(Danio rerio)
Actinopterygii fktn 35
  • 59.52 (n)
  • 57.11 (a)
fktn 36
  • 56 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F28A10.9 36
  • 21 (a)
OneToMany
T07A5.1 36
  • 23 (a)
OneToMany
T07D3.4 36
  • 24 (a)
OneToMany
T07D3.5 36
  • 19 (a)
OneToMany
T07D3.6 36
  • 24 (a)
OneToMany
W02B3.4 36
  • 26 (a)
OneToMany
W02B3.7 36
  • 20 (a)
OneToMany
Y22D7AL.11 36
  • 18 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8045 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for FKTN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FKTN Gene

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

Paralogs for FKTN Gene

No data available for Paralogs for FKTN Gene

Variants for FKTN Gene

Sequence variations from dbSNP and Humsavar for FKTN Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs997319 -- 105,585,613(+) GAAGT(A/G)TAGAT intron-variant
rs1018847 -- 105,572,933(+) ATTCC(C/T)ATTTA intron-variant, upstream-variant-2KB
rs1018848 -- 105,572,934(+) TTCCC(A/G)TTTAG intron-variant, upstream-variant-2KB
rs1018849 -- 105,572,948(+) AGTAG(A/G)TGAGG intron-variant, upstream-variant-2KB
rs1018850 -- 105,573,260(+) AATTG(C/T)AGTTC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FKTN Gene

Variant ID Type Subtype PubMed ID
nsv893692 CNV Gain 21882294
esv5990 CNV Gain 19470904
nsv519023 CNV Gain 19592680
esv2678852 CNV Deletion 23128226
esv22929 CNV Loss 19812545

Relevant External Links for FKTN Gene

HapMap Linkage Disequilibrium report
FKTN
Human Gene Mutation Database (HGMD)
FKTN
Locus Specific Mutation Databases (LSDB)
FKTN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKTN Gene

Disorders for FKTN Gene

(4) OMIM Diseases for FKTN Gene (607440)

UniProtKB/Swiss-Prot

FKTN_HUMAN
  • 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. {ECO:0000269 PubMed:10545611, ECO:0000269 PubMed:19179078, ECO:0000269 PubMed:22958903, ECO:0000269 PubMed:24530477}. 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. {ECO:0000269 PubMed:14627679, ECO:0000269 PubMed:18177472, ECO:0000269 PubMed:19179078, ECO:0000269 PubMed:19299310}. 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. {ECO:0000269 PubMed:17044012, ECO:0000269 PubMed:19342235}. 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. {ECO:0000269 PubMed:17036286}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for FKTN Gene

(13) Novoseek inferred disease relationships for FKTN Gene

Disease -log(P) Hits PubMed IDs
fukuyama congenital muscular dystrophy 98.2 31
walker-warburg syndrome 97.2 10
muscle-eye-brain disease 95.3 5
mdc1c 94.7 5
muscular dystrophies 94.1 28

Relevant External Links for FKTN

GeneTests
FKTN
GeneReviews
FKTN
Genetic Association Database (GAD)
FKTN
Human Genome Epidemiology (HuGE) Navigator
FKTN
genes like me logo Genes that share disorders with FKTN: view

Publications for FKTN Gene

  1. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. (PMID: 17036286) Murakami T. … Nishino I. (Ann. Neurol. 2006) 2 3 4 23
  2. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. (PMID: 17044012) Godfrey C. … Muntoni F. (Ann. Neurol. 2006) 2 3 4 23
  3. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E. … Bertini E. (Neurology 2009) 3 4 23 48
  4. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. (PMID: 19179078) Vuillaumier-Barrot S. … Seta N. (Neuromuscul. Disord. 2009) 3 4 23
  5. Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. (PMID: 19015585) Arimura T. … Kimura A. (Circ. J. 2009) 3 23 48

Products for FKTN Gene

Sources for FKTN Gene

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