Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2218
Gene name Gene Name - the full gene name approved by the HGNC.
Fukutin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FKTN
Synonyms (NCBI Gene) Gene synonyms aliases
CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.2
Summary Summary of gene provided in NCBI Entrez 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 glycosyltra
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs119463990 C>T Pathogenic Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant
rs119463991 C>T Pathogenic Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs119463992 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs119463993 A>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs119463994 G>A,C Likely-pathogenic, pathogenic Coding sequence variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030086 hsa-miR-26b-5p Microarray 19088304
MIRT048207 hsa-miR-196a-5p CLASH 23622248
MIRT047823 hsa-miR-30d-5p CLASH 23622248
MIRT715208 hsa-miR-519a-3p HITS-CLIP 19536157
MIRT715207 hsa-miR-519b-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 17034757, 26923585
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 17034757, 27601598, 28514442, 29477842, 33961781
GO:0005615 Component Extracellular space TAS 9690476
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607440 3622 ENSG00000106692
Protein
UniProt ID O75072
Protein name Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) (Fukutin) (Fukuyama-type congenital muscular dystrophy protein) (Ribitol-5-phosphate transferase)
Protein function Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate str
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04991 LicD 289 340 LicD family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMe
Sequence
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKK
FIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLW
KNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERS
GNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSG
TCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGL
PLKHKFGKVEDSLELSFQGK
DDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIE
ANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Mannose type O-glycan biosynthesis
Metabolic pathways
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 rs1554748292, rs370819786, rs119463991, rs1554752805, rs267606814, rs587777813, rs750176716, rs1554761402, rs773884973, rs398123557, rs398123555, rs1554754182, rs1588112379, rs1309132512, rs1057516258
View all (13 more)
N/A
Dilated Cardiomyopathy Dilated cardiomyopathy 1X rs1057516966, rs587777748, rs119463990, rs377417974, rs1588222602, rs958678700, rs119463991, rs267606814, rs750176716, rs1554761402, rs398123557, rs1564301594, rs1588112379, rs119463993, rs1554761462
View all (3 more)
N/A
Limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2M rs398123555, rs587777814, rs119463992, rs773884973, rs119463996 N/A
Walker-Warburg Congenital Muscular Dystrophy walker-warburg congenital muscular dystrophy rs1438288380, rs377417974, rs119464997, rs767865405, rs1564290459, rs1588222602, rs760731888, rs958678700, rs119463991, rs267606814, rs886042778, rs587777813, rs750176716, rs1588315166, rs1554761402
View all (22 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cardiomyopathy Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy N/A N/A ClinVar
cardiomyopathy Cardiomyopathy N/A N/A ClinVar
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy N/A N/A ClinVar
muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Disease Associate 29101272
Astrocytoma Associate 22264285
Autosomal Recessive Primary Microcephaly Associate 24530477
Bohring syndrome Associate 32969603
Bundle Branch Block Associate 33567613
Cardiomyopathies Associate 34137518, 35743126
Cardiomyopathy Dilated Associate 19015585, 32969603, 34011823, 34137518, 35743126
Cardiomyopathy Hypertrophic Associate 34137518
Cardiomyopathy Right Ventricular Dilated Associate 33567613
Central Nervous System Diseases Associate 22264285