FKRP (fukutin related protein)

2014-11-01  

Identity

HGNC
FKRP
LOCATION
19q13.32
LOCUSID
79147
ALIAS
FKTR,LGMD2I,LGMDR9,MDC1C,MDDGA5,MDDGB5,MDDGC5

Other Information

Locus ID:

NCBI: 79147
MIM: 606596
HGNC: 17997
Ensembl: ENSG00000181027

Variants:

dbSNP: 79147
ClinVar: 79147
TCGA: ENSG00000181027
COSMIC: FKRP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181027ENST00000318584Q9H9S5
ENSG00000181027ENST00000318584A0A024R0R7
ENSG00000181027ENST00000391909Q9H9S5
ENSG00000181027ENST00000391909A0A024R0R7
ENSG00000181027ENST00000593800M0R0G0
ENSG00000181027ENST00000593875M0QZ46
ENSG00000181027ENST00000593902M0R005
ENSG00000181027ENST00000594467M0R1M1
ENSG00000181027ENST00000595570M0R016
ENSG00000181027ENST00000595868M0R112
ENSG00000181027ENST00000596460M0QXT8
ENSG00000181027ENST00000597313M0R274
ENSG00000181027ENST00000598271M0R092
ENSG00000181027ENST00000600005M0QZ68
ENSG00000181027ENST00000600227M0QX03
ENSG00000181027ENST00000600629M0QYV4
ENSG00000181027ENST00000600834M0QYR2
ENSG00000181027ENST00000601299M0QYV8
ENSG00000181027ENST00000602181M0R342
ENSG00000181027ENST00000602250M0R2U3

Expression (GTEx)

0
5
10
15
20
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
376955332024Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).0
379272702024Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.0
382773012024Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.0
376955332024Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).0
379272702024Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.0
382773012024Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.0
371541802023Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.2
371541802023Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.2
332728292021Fukutin-Related Protein: From Pathology to Treatments.7
340120312021FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.13
345092552021FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.3
346534042021Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.6
332728292021Fukutin-Related Protein: From Pathology to Treatments.7
340120312021FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.13
345092552021FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.3

Citation

Dessen P

FKRP (fukutin related protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63403/fkrp-(fukutin-related-protein)