Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2530
Gene name Gene Name - the full gene name approved by the HGNC.
Fucosyltransferase 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FUT8
Synonyms (NCBI Gene) Gene synonyms aliases
CDGF, CDGF1
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which cata
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1297536872 C>G,T Pathogenic Missense variant, intron variant, coding sequence variant
rs1334593208 C>T Pathogenic Stop gained, coding sequence variant, intron variant
rs1460811017 C>T Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs1555388034 G>T Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029006 hsa-miR-26b-5p Microarray 19088304
MIRT438734 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR, Western blot 24130780
MIRT438733 hsa-miR-34a-5p Luciferase reporter assay, qRT-PCR, Western blot 24130780
MIRT438734 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR, Western blot 24130780
MIRT438733 hsa-miR-34a-5p Luciferase reporter assay, qRT-PCR, Western blot 24130780
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 TAS
GO:0001701 Process In utero embryonic development NAS 11698403
GO:0005515 Function Protein binding IPI 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus NAS 11698403
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602589 4019 ENSG00000033170
Protein
UniProt ID Q9BYC5
Protein name Alpha-(1,6)-fucosyltransferase (Alpha1-6FucT) (EC 2.4.1.68) (Fucosyltransferase 8) (GDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferase) (GDP-fucose--glycoprotein fucosyltransferase) (Glycoprotein 6-alpha-L-fucosyltransferase)
Protein function Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.
PDB 2DE0 , 6VLD , 6VLE , 6X5H , 6X5R , 6X5S , 6X5T , 6X5U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9 509 559 Variant SH3 domain Domain
Sequence
MRPWTGSWRWIMLILFAWGTLLFYIGGHLVRDNDHPDHSSRELSKILAKLERLKQQNEDL
RRMAESLRIPEGPIDQGPAIGRVRVLEEQLVKAKEQIENYKKQTRNGLGKDHEILRRRIE
NGAKELWFFLQSELKKLKNLEGNELQRHADEFLLDLGHHERSIMTDLYYLSQTDGAGDWR
EKEAKDLTELVQRRITYLQNPKDCSKAKKLVCNINKGCGYGCQLHHVVYCFMIAYGTQRT
LILESQNWRYATGGWETVFRPVSETCTDRSGISTGHWSGEVKDKNVQVVELPIVDSLHPR
PPYLPLAVPEDLADRLVRVHGDPAVWWVSQFVKYLIRPQPWLEKEIEEATKKLGFKHPVI
GVHVRRTDKVGTEAAFHPIEEYMVHVEEHFQLLARRMQVDKKRVYLATDDPSLLKEAKTK
YPNYEFISDNSISWSAGLHNRYTENSLRGVILDIHFLSQADFLVCTFSSQVCRVAYEIMQ
TLHPDASANFHSLDDIYYFGGQNAHNQIAIYAHQPRTADEIPMEPGDIIGVAGNHWDGYS
KGVNRKLGRTGLYPSYKVR
EKIETVKYPTYPEAEK
Sequence length 575
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Glycosaminoglycan biosynthesis - keratan sulfate
Metabolic pathways
Transcriptional misregulation in cancer
  Reactions specific to the complex N-glycan synthesis pathway
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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 disorder of glycosylation Congenital disorder of glycosylation with defective fucosylation 1 rs1460811017, rs1297536872, rs1555388034, rs1334593208 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
Coenzyme Q10 Deficiency Coenzyme Q10 levels N/A N/A GWAS
Gout Gout N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 36039648
Apraxia Ideomotor Associate 30231941
Brain Diseases Metabolic Inborn Associate 32049367
Breast Neoplasms Associate 23819905, 28982386, 31306109
Carcinogenesis Associate 19302290
Carcinoma Hepatocellular Associate 24232099, 24927126, 31022917, 35504805
Carcinoma Non Small Cell Lung Associate 31894325
Cerebral Hemorrhage Associate 32474671
Colorectal Neoplasms Stimulate 19302290
Colorectal Neoplasms Associate 22152070, 29975776, 35955598