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Aliases for FKTN Gene

Aliases for FKTN Gene

  • Fukutin 2 3 5
  • FCMD 3 4
  • 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
  • LGMD2M 3
  • MDDGA4 3
  • MDDGB4 3
  • MDDGC4 3
  • CMD1X 3

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 c, 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

Promoters for FKTN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FKTN on UCSC Golden Path with GeneCards custom track

Genomic Location for FKTN Gene

Chromosome:
9
Start:
105,558,119 bp from pter
End:
105,641,118 bp from pter
Size:
83,000 bases
Orientation:
Plus strand

Genomic View for FKTN Gene

Genes around FKTN on UCSC Golden Path with GeneCards custom track

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for FKTN Gene

Domains & Families 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 :
  • Belongs to the LicD transferase family.
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

genes like me logo Genes that share phenotypes with FKTN: view

Human Phenotype Ontology for FKTN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FKTN Gene

MGI Knock Outs for FKTN:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
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
genes like me logo Genes that share ontologies with FKTN: view

Pathways & Interactions 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:0008285 negative regulation of cell proliferation IMP 18808525
GO:0060049 regulation of protein glycosylation NAS 18808525
genes like me logo Genes that share ontologies with FKTN: view

No data available for Pathways by source and SIGNOR curated interactions for FKTN Gene

Drugs & Compounds for FKTN Gene

(1) Additional Compounds for FKTN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Protein differential expression in normal tissues from HIPED for FKTN Gene

This gene is overexpressed in Fetal Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FKTN: view

Protein tissue co-expression partners for FKTN Gene

- Elite partner

Primer Products

In Situ Assay Products

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 16
Fktn 36
  • 90 (a)
OneToOne
Fktn 35
  • 87.56 (n)
  • 89.8 (a)
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 36
  • 59 (a)
OneToOne
FKTN 35
  • 72.96 (n)
  • 72.89 (a)
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
VAR_018278 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4)
rs41313301 - 105,635,214(+) AACCC(A/G)ATGGA intron-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
rs34006675 - 105,604,218(+) AGGAA(A/G)GCTGG reference, missense, utr-variant-5-prime
rs34787999 - 105,604,453(+) CTTCC(A/G)AAAGT reference, missense
VAR_036334 A breast cancer sample

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

Variation tolerance for FKTN Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.40; 85.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FKTN Gene

HapMap Linkage Disequilibrium report
FKTN
Human Gene Mutation Database (HGMD)
FKTN

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

Disorders for FKTN Gene

MalaCards: The human disease database

(34) MalaCards diseases for FKTN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 4
  • fukuyama congenital muscular dystrophy
muscular dystrophy-dystroglycanopathy , type c, 4
  • limb-girdle muscular dystrophy type 2m
muscular dystrophy-dystroglycanopathy , type b, 4
  • muscular dystrophy-dystroglycanopathy congenital without mental retardation b4
cardiomyopathy, dilated, 1x
  • cmd1x
congenital muscular dystrophy without intellectual disability
  • cmd without intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search FKTN in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for FKTN

Genetic Association Database (GAD)
FKTN
Human Genome Epidemiology (HuGE) Navigator
FKTN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FKTN
genes like me logo Genes that share disorders with FKTN: view

No data available for Genatlas for FKTN Gene

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 67
  2. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. (PMID: 17044012) Godfrey C. … Muntoni F. (Ann. Neurol. 2006) 2 3 23
  3. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. (PMID: 8275093) Toda T. … Suzuki M [corrected to Sakai M.]. (Nat. Genet. 1993) 2 3 23
  4. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E. … Bertini E. (Neurology 2009) 3 23
  5. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy. (PMID: 18834683) Yoshioka M. (Brain Dev. 2009) 3 23

Products for FKTN Gene

Sources for FKTN Gene

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