Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
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 61 - 70 of 215 in total
DO ID Disease Name Source
DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U
DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M
DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K
DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N
DOID:0110439 dilated cardiomyopathy 1P
DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I
DOID:0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A
DOID:0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H
The Human Phenotype Ontology
Displaying entries 151 - 160 of 191 in total
HPO ID HPO Term
HP:0004637 Decreased cervical spine mobility
HP:0005109 Abnormality of the Achilles tendon
HP:0005162 Abnormal left ventricular function
HP:0006829 Severe muscular hypotonia
HP:0006888 Meningoencephalocele
HP:0006899 Fusion of the cerebellar hemispheres
HP:0006955 Olivopontocerebellar hypoplasia
HP:0007015 Poor gross motor coordination
HP:0007033 Cerebellar dysplasia
HP:0007126 Proximal amyotrophy
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 1 - 10 of 67 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
37375 FB:FBgn0034567
102354608 LATCH10430
571426 ZFIN:ZDB-GENE-070412-4 DANRE09821
108277811 ICTPU10772
113579447 ELEEL24133
106612391 SALSA141488
115528948 GADMO19771
101164830 ORYLA03404
100691656 ORENI17492
115594198 SPAAU17563
About Release Notes Help Feedback
International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.0.0

Last updated: August 19, 2024