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Standards Ontologies Notations
fukutin related protein

Summary
Gene Symbol
  • FKRP
Aliases
  • FKTR
  • LGMD2I
  • MDC1C
Organism
Homo sapiens (human)
External Links
NCBI Gene
79147
GGDB ID
HGNC
17997
mRNA
map
  • 19q13.33
Protein
OMIM
KEGG Gene ID
hsa:79147
PubChem
79147
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Cardiomyopathy
  • Cell membrane
  • Congenital muscular dystrophy
  • Cytoplasm
  • Disease variant
  • Disulfide bond
  • Dystroglycanopathy
  • Endoplasmic reticulum
  • Glycoprotein
  • Golgi apparatus
  • Limb-girdle muscular dystrophy
  • Lissencephaly
  • Magnesium
  • Metal-binding
  • Reference proteome
  • Secreted
  • Signal-anchor
  • Transferase
  • Transmembrane helix
  • Zinc
Proteins
Displaying 1 entry
UniProt Protein Name
Q9H9S5
  • Fukutin-related protein
  • Ribitol-5-phosphate transferase
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 11 - 15 of 38 in total
GO Term Evidence Code PMID
response to alcohol
connective tissue replacement
basement membrane organization
response to glucocorticoid
phosphatidylinositol 3-kinase/protein kinase B signal transduction
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
Human Protein Atlas
ENSG00000181027

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas
GlycoGene Database (GGDB)
GGDB ID
gg188
Gene Symbol
  • FKRP
Orthologous Gene
Displaying all 3 entries
Species Protein mRNA
Rattus norvegicus NP_001020849 NM_001025678
Drosophila melanogaster NP_611531 NM_137687
Mus musculus NP_775606 NM_173430
KEGG BRITE Database
Orthology
K19873
Name
fukutin-related protein [EC:2.7.8.-]
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 215 in total
DO ID Disease Name Source
DOID:0110274 autosomal recessive limb-girdle muscular dystrophy
DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A
DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B
DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C
DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D
DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E
DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F
DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G
DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H
DOID:0110437 dilated cardiomyopathy 1K
The Human Phenotype Ontology
Displaying entries 1 - 10 of 191 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000050 Hypoplastic male external genitalia
HP:0000054 Micropenis
HP:0000110 Renal dysplasia
HP:0000158 Macroglossia
HP:0000175 Cleft palate
HP:0000176 Submucous cleft hard palate
HP:0000193 Bifid uvula
HP:0000204 Cleft upper lip
Displaying all 10 entries
Disease ID Disease Name
ORPHA:370980
  • muscular dystrophy-dystroglycanopathy type B5
  • obsolete congenital muscular dystrophy without intellectual disability
ORPHA:34515
  • autosomal recessive limb-girdle muscular dystrophy type 2I
OMIM:606612
  • muscular dystrophy-dystroglycanopathy type B5
ORPHA:899
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • muscular dystrophy-dystroglycanopathy, type A
ORPHA:370968
  • congenital muscular dystrophy with intellectual disability
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • muscular dystrophy-dystroglycanopathy type B5
  • muscular dystrophy-dystroglycanopathy type B6
OMIM:236670
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:370959
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • muscular dystrophy-dystroglycanopathy type B5
  • obsolete congenital muscular dystrophy with cerebellar involvement
OMIM:607155
  • autosomal recessive limb-girdle muscular dystrophy type 2I
OMIM:613153
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
ORPHA:588
  • muscle-eye-brain disease
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 51 - 60 of 67 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
101955324 ICTTR05919
117035189 RHIFE01086
103234922 CHLSB15943
104673400 RHIRO06814
114603278 PODMU30952
107566082 SINGR91242
107592673 SINGR52236
123281125 EQUAS26541
116835273 CHEAB05906
115053339 ECHNA06186
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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024