Gene Gene information from NCBI Gene database.
Entrez ID 2218
Gene name Fukutin
Gene symbol FKTN
Synonyms (NCBI Gene)
CMD1XFCMDLGMD2MLGMDR13MDDGA4MDDGB4MDDGC4
Chromosome 9
Chromosome location 9q31.2
Summary 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.
73
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.
591
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607440 3622 ENSG00000106692
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1821
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive limb-girdle muscular dystrophy type 2M Likely pathogenic; Pathogenic rs537001725, rs1554752862, rs2539411480, rs2539404849, rs2539404585, rs2539405255, rs2539710360, rs2539402514, rs2539494660, rs2539412353, rs2539334508, rs2538817842, rs2539657265, rs398123555, rs119463996
View all (15 more)
RCV002492573
RCV002309809
RCV002309878
RCV002310020
RCV002308012
RCV002308094
RCV002308331
RCV002309267
RCV002309308
RCV002307081
RCV002310369
RCV002310553
RCV002308459
RCV000003357
RCV000003358
RCV000003361
RCV000003362
RCV000003368
RCV005003319
RCV005050630
RCV000490403
RCV002487188
RCV002487209
RCV004576132
RCV005238958
RCV000763612
RCV005049637
RCV005046998
RCV005004444
RCV005047242
RCV005003454
Cardiovascular phenotype Pathogenic; Likely pathogenic rs398123555, rs2132704748, rs1383324318, rs1430884213, rs119463990, rs119463991, rs119463992, rs267606814, rs746763506, rs750176716, rs1554761402, rs1564301594, rs1588315166, rs1203741361, rs398123557 RCV002329753
RCV004996048
RCV002333953
RCV002412257
RCV003372594
RCV002326661
RCV005562298
RCV004991964
RCV002444418
RCV005404398
RCV003298418
RCV002325341
RCV003166018
RCV002440750
RCV002327598
RCV003162509
Dilated cardiomyopathy 1X Pathogenic; Likely pathogenic rs557096550, rs1828477244, rs2133163213, rs369797361, rs398123555, rs764125009, rs537001725, rs1383324318, rs119463990, rs587777748, rs119463991, rs119463992, rs119463993, rs119464997, rs267606814
View all (46 more)
RCV001594453
RCV003476408
RCV003473925
RCV003470875
RCV003470903
RCV004571967
RCV002492573
RCV003475348
RCV003472962
RCV003466792
RCV004566676
RCV003472963
RCV003466793
RCV000003364
RCV003472964
RCV003466795
RCV003465937
RCV005050630
RCV003465898
RCV001594387
RCV002487188
RCV004567828
RCV003468204
RCV003476407
RCV003468205
RCV003468206
RCV003468207
RCV003468208
RCV003468210
RCV003468211
RCV003468212
RCV003468213
RCV003468214
RCV003468215
RCV003476410
RCV003468216
RCV003476411
RCV003468217
RCV003476412
RCV003476413
RCV003468219
RCV004576131
RCV004576613
RCV004576614
RCV004576615
RCV004576616
RCV004576617
RCV004567885
RCV003470343
RCV000763612
RCV003465525
RCV005049637
RCV003472165
RCV003465537
RCV003465665
RCV005046998
RCV003472283
RCV003465678
RCV003467404
RCV003472410
RCV004569793
RCV004570162
RCV003469417
RCV003469473
RCV003474679
FKTN-related disorder Pathogenic; Likely pathogenic rs398123555, rs1588315166, rs767865405 RCV000778871
RCV004528306
RCV004536091
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy Conflicting classifications of pathogenicity rs146967918, rs141918432, rs41313301, rs41277795 RCV000029799
RCV000853035
RCV000029801
RCV000029803
Cervical cancer Likely benign rs1831127930 RCV005921094
Chronic lymphocytic leukemia/small lymphocytic lymphoma Likely benign rs201625324 RCV005925999
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs193922689 RCV005888726
Associations from Text MiningDisease 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