FKTN (fukutin)

2016-10-01  

Identity

HGNC
FKTN
LOCATION
9q31.2
LOCUSID
2218
ALIAS
CMD1X,FCMD,LGMD2M,LGMDR13,MDDGA4,MDDGB4,MDDGC4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2218
MIM: 607440
HGNC: 3622
Ensembl: ENSG00000106692

Variants:

dbSNP: 2218
ClinVar: 2218
TCGA: ENSG00000106692
COSMIC: FKTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106692ENST00000223528O75072
ENSG00000106692ENST00000357998O75072
ENSG00000106692ENST00000374705I7HPB4
ENSG00000106692ENST00000448551O75072
ENSG00000106692ENST00000457847H7C3W5
ENSG00000106692ENST00000602526R4GMU0
ENSG00000106692ENST00000602661O75072
ENSG00000106692ENST00000642177A0A2R8Y768
ENSG00000106692ENST00000642537A0A2R8Y7E3
ENSG00000106692ENST00000642644A0A2R8Y6X6
ENSG00000106692ENST00000642952A0A2R8Y4L5
ENSG00000106692ENST00000644273A0A2R8YDW9
ENSG00000106692ENST00000645933A0A2R8Y6X6

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
358435862022Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.0
358435862022Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus.0
348300342021Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study.1
348300342021Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study.1
294162952018Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.5
294778422018Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.5
294162952018Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.5
294778422018Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5.5
286801092017Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.4
286801092017Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.4
262234712016Fukutin, identified by the Escherichia coli ampicillin secretion trap (CAST) method, participates in tumor progression in gastric cancer.6
269235852016Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.105
271941012016ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.66
262234712016Fukutin, identified by the Escherichia coli ampicillin secretion trap (CAST) method, participates in tumor progression in gastric cancer.6
269235852016Identification 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)