Gene Gene information from NCBI Gene database.
Entrez ID 2530
Gene name Fucosyltransferase 8
Gene symbol FUT8
Synonyms (NCBI Gene)
CDGFCDGF1
Chromosome 14
Chromosome location 14q23.3
Summary 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.
4
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.
215
miRTarBase ID miRNA Experiments Reference
MIRT029006 hsa-miR-26b-5p Microarray 19088304
MIRT438734 hsa-miR-122-5p Luciferase reporter assayqRT-PCRWestern blot 24130780
MIRT438733 hsa-miR-34a-5p Luciferase reporter assayqRT-PCRWestern blot 24130780
MIRT438734 hsa-miR-122-5p Luciferase reporter assayqRT-PCRWestern blot 24130780
MIRT438733 hsa-miR-34a-5p Luciferase reporter assayqRT-PCRWestern blot 24130780
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602589 4019 ENSG00000033170
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital disorder of glycosylation with defective fucosylation 1 Likely pathogenic; Pathogenic rs371242983, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1885915172 RCV002250965
RCV000656448
RCV000656449
RCV000656450
RCV000656451
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FUT8-related disorder Likely pathogenic rs1225111857 RCV003404504
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder Pathogenic rs1460811017 RCV005900404
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 23609441
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 26754572
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31557675
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31557675
★☆☆☆☆
Found in Text Mining only
Brain Diseases Metabolic Inborn Brain disease Pubtator 32049367 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28982386, 31306109
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23819905, 28982386, 31306109 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19302290 Associate
★☆☆☆☆
Found in Text Mining only