Identity
HGNC
LOCATION
9q31.2
LOCUSID
ALIAS
CMD1X,FCMD,LGMD2M,LGMDR13,MDDGA4,MDDGB4,MDDGC4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2218
MIM: 607440
HGNC: 3622
Ensembl: ENSG00000106692
Variants:
dbSNP: 2218
ClinVar: 2218
TCGA: ENSG00000106692
COSMIC: FKTN
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolic pathways | KEGG | hsa01100 |
| Mannose type O-glycan biosynthesis | KEGG | ko00515 |
| Mannose type O-glycan biosynthesis | KEGG | hsa00515 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35843586 | 2022 | Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. | 0 |
| 35843586 | 2022 | Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. | 0 |
| 34830034 | 2021 | Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study. | 1 |
| 34830034 | 2021 | Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study. | 1 |
| 29416295 | 2018 | Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes. | 5 |
| 29477842 | 2018 | Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5. | 5 |
| 29416295 | 2018 | Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes. | 5 |
| 29477842 | 2018 | Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5. | 5 |
| 28680109 | 2017 | Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan. | 4 |
| 28680109 | 2017 | Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan. | 4 |
| 26223471 | 2016 | Fukutin, identified by the Escherichia coli ampicillin secretion trap (CAST) method, participates in tumor progression in gastric cancer. | 6 |
| 26923585 | 2016 | Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. | 105 |
| 27194101 | 2016 | ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. | 66 |
| 26223471 | 2016 | Fukutin, identified by the Escherichia coli ampicillin secretion trap (CAST) method, participates in tumor progression in gastric cancer. | 6 |
| 26923585 | 2016 | Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. | 105 |
Citation
Dessen P
FKTN (fukutin)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/55979/fktn-(fukutin)
