mutLBSgeneDB |
Gene summary for POFUT2 |
Gene summary |
Basic gene Info. | Gene symbol | POFUT2 |
Gene name | protein O-fucosyltransferase 2 | |
Synonyms | C21orf80|FUT13 | |
Cytomap | UCSC genome browser: 21q22.3 | |
Type of gene | protein-coding | |
RefGenes | NM_133634.3, NM_015227.4,NM_133635.4,NR_004858.1, | |
Description | GDP-fucose protein O-fucosyltransferase 2O-FucT-2peptide-O-fucosyltransferase 2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 610249 | |
HGNC : HGNC | ||
Ensembl : ENSG00000186866 | ||
HPRD : 09846 | ||
Vega : OTTHUMG00000084874 | ||
Protein | UniProt: Q9Y2G5 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_POFUT2 | |
BioGPS: 23275 | ||
Pathway | NCI Pathway Interaction Database: POFUT2 | |
KEGG: POFUT2 | ||
REACTOME: POFUT2 | ||
Pathway Commons: POFUT2 | ||
Context | iHOP: POFUT2 | |
ligand binding site mutation search in PubMed: POFUT2 | ||
UCL Cancer Institute: POFUT2 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0036066 | protein O-linked fucosylation | 22588082 | GO:0051046 | regulation of secretion | 17395589 |
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Ligand binding site mutations for POFUT2 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | H292 | G290R | LUAD | 1 | N57 | R59C | STAD | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for POFUT2 |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | N57 | R59C | -1.0295438 | H292 | G290R | -0.17215465 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for POFUT2 from PDB |
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Differential gene expression and gene-gene network for POFUT2 |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for POFUT2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for POFUT2 |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of POFUT2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GFB | GDP-L-FUCOSE | 4ap6 | A | N57 H292 | GFB | GDP-L-FUCOSE | 4ap6 | B | N57 H292 | GFB | GDP-L-FUCOSE | 4ap6 | C | N57 H292 | GFB | GDP-L-FUCOSE | 4ap6 | D | N57 H292 |
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Conservation information for LBS of POFUT2 |
Multiple alignments for Q9Y2G5 in multiple species |
LBS | AA sequence | # species | Species | A331 | DKVFVATDAVR | 2 | Homo sapiens, Pan troglodytes | A331 | TTVFLATDATP | 1 | Drosophila melanogaster | A331 | DKVFVATDAIR | 1 | Mus musculus | A368 | KDGGVAIIDQW | 3 | Homo sapiens, Mus musculus, Pan troglodytes | A368 | KDGGVAVVDQL | 1 | Drosophila melanogaster | D371 | GVAIIDQWICA | 3 | Homo sapiens, Mus musculus, Pan troglodytes | D371 | GVAVVDQLVCA | 1 | Drosophila melanogaster | F389 | TSVSTFSFRIH | 3 | Homo sapiens, Mus musculus, Pan troglodytes | F389 | TYESTFTYRIY | 1 | Drosophila melanogaster | F56 | NPPEGFNLRRD | 3 | Homo sapiens, Mus musculus, Pan troglodytes | F56 | NISEGFNLRRD | 1 | Drosophila melanogaster | G55 | VNPPEGFNLRR | 3 | Homo sapiens, Mus musculus, Pan troglodytes | G55 | VNISEGFNLRR | 1 | Drosophila melanogaster | H292 | PYLGVHLRRKD | 3 | Homo sapiens, Mus musculus, Pan troglodytes | H292 | DYLCAHLRRGD | 1 | Drosophila melanogaster | N57 | PPEGFNLRRDV | 3 | Homo sapiens, Mus musculus, Pan troglodytes | N57 | ISEGFNLRRDV | 1 | Drosophila melanogaster | R294 | LGVHLRRKDFI | 3 | Homo sapiens, Mus musculus, Pan troglodytes | R294 | LCAHLRRGDFV | 1 | Drosophila melanogaster | S387 | IGTSVSTFSFR | 3 | Homo sapiens, Mus musculus, Pan troglodytes | S387 | VGTYESTFTYR | 1 | Drosophila melanogaster | T332 | KVFVATDAVRK | 2 | Homo sapiens, Pan troglodytes | T332 | TVFLATDATPY | 1 | Drosophila melanogaster | T332 | KVFVATDAIRK | 1 | Mus musculus | T388 | GTSVSTFSFRI | 3 | Homo sapiens, Mus musculus, Pan troglodytes | T388 | GTYESTFTYRI | 1 | Drosophila melanogaster | V367 | YKDGGVAIIDQ | 3 | Homo sapiens, Mus musculus, Pan troglodytes | V367 | LKDGGVAVVDQ | 1 | Drosophila melanogaster | V386 | FIGTSVSTFSF | 3 | Homo sapiens, Mus musculus, Pan troglodytes | V386 | FVGTYESTFTY | 1 | Drosophila melanogaster |
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