GlyCosmos Portal

Annotation

Keyword

Alternative splicing
Cardiomyopathy
Congenital muscular dystrophy
Cytoplasm
Disease variant
Dystroglycanopathy
Glycoprotein
Golgi apparatus
Limb-girdle muscular dystrophy
Lissencephaly
Nucleus
Reference proteome
Signal-anchor
Transferase
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
B4E2W4
O75072	Fukutin Fukuyama-type congenital muscular dystrophy protein Ribitol-5-phosphate transferase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
protein O-linked glycosylation	IMP	17034757
nervous system development		9690476
muscle organ development		9690476
negative regulation of cell population proliferation	IMP	18808525
regulation of protein glycosylation		18808525

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

mannosylation [inference]

protein mannosylation [inference]

protein O-linked mannosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule glycosylation [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

muscle organ development

system development [inference]

nervous system development

muscle structure development [inference]

muscle organ development

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of glycoprotein biosynthetic process [inference]

regulation of protein glycosylation

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of glycoprotein biosynthetic process [inference]

regulation of protein glycosylation

regulation of nitrogen compound metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of protein modification process [inference]

regulation of protein glycosylation

regulation of glycoprotein metabolic process [inference]

regulation of glycoprotein biosynthetic process [inference]

regulation of protein glycosylation

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of glycoprotein biosynthetic process [inference]

regulation of protein glycosylation

regulation of protein metabolic process [inference]

regulation of protein modification process [inference]

regulation of protein glycosylation

regulation of glycoprotein metabolic process [inference]

regulation of glycoprotein biosynthetic process [inference]

regulation of protein glycosylation

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of protein modification process [inference]

regulation of protein glycosylation

regulation of glycoprotein metabolic process [inference]

regulation of glycoprotein biosynthetic process [inference]

regulation of protein glycosylation

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of intracellular signal transduction [inference]

regulation of MAPK cascade [inference]

regulation of stress-activated MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of JNK cascade [inference]

negative regulation of JNK cascade

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of stress-activated protein kinase signaling cascade [inference]

regulation of stress-activated MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of JNK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of intracellular signal transduction [inference]

regulation of MAPK cascade [inference]

regulation of stress-activated MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of JNK cascade [inference]

negative regulation of JNK cascade

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of stress-activated protein kinase signaling cascade [inference]

regulation of stress-activated MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of JNK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of response to stress [inference]

regulation of cellular response to stress [inference]

regulation of stress-activated protein kinase signaling cascade [inference]

regulation of stress-activated MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of JNK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of intracellular signal transduction [inference]

regulation of MAPK cascade [inference]

regulation of stress-activated MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of JNK cascade [inference]

negative regulation of JNK cascade

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of stress-activated protein kinase signaling cascade [inference]

regulation of stress-activated MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of JNK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of glycoprotein biosynthetic process [inference]

regulation of protein glycosylation

regulation of cell population proliferation [inference]

negative regulation of cell population proliferation

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of cellular response to stress [inference]

regulation of stress-activated protein kinase signaling cascade [inference]

regulation of stress-activated MAPK cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

regulation of JNK cascade [inference]

negative regulation of JNK cascade

negative regulation of stress-activated protein kinase signaling cascade [inference]

negative regulation of stress-activated MAPK cascade [inference]

negative regulation of JNK cascade

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
nucleus	IDA	18808525
endoplasmic reticulum	IDA	18808525
cis-Golgi network	IDA	15213246
extracellular space		9690476
Golgi apparatus	IDA	18808525 25279699 29477842

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular space

membrane [inference]

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI	17034757 27601598 28514442 29477842
phosphotransferase activity, for other substituted phosphate groups	IDA	26923585 27194101 29477842

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

phosphotransferase activity, for other substituted phosphate groups

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

GlycoGene Database (GGDB)

GGDB ID

gg187

Gene Symbol

FKTN

Orthologous Gene

Displaying **all 3** entries
Species	Protein	mRNA
Rattus norvegicus	XP_342839	XM_342838
Caenorhabditis elegans	NP_497236	NM_064835
Mus musculus	NP_647470	NM_139309

KEGG BRITE Database

Orthology

K19872

Name

fukutin [EC:2.7.8.-]

References

17005282

Disease

Disease Ontology

Displaying entries **61 - 70** of **216** in total

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DO ID	Disease Name	Source
DOID:0110286	obsolete autosomal recessive limb-girdle muscular dystrophy type 2R	DisGeNET DisGeNET DisGeNET
DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S	DisGeNET DisGeNET DisGeNET
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y	DisGeNET DisGeNET DisGeNET
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O	DisGeNET DisGeNET DisGeNET
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P	DisGeNET DisGeNET DisGeNET
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T	DisGeNET DisGeNET DisGeNET
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U	DisGeNET DisGeNET DisGeNET
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M	Glyco-Disease Genes Database DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N	DisGeNET DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of **168** in total

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HPO ID	HPO Term
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000268	Dolichocephaly
HP:0000298	Mask-like facies
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000407	Sensorineural hearing impairment
HP:0000411	Protruding ear

Displaying **all 10** entries
Disease ID	Disease Name
ORPHA:370980	muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy without intellectual disability
ORPHA:154	dilated cardiomyopathy 1KK obsolete familial isolated dilated cardiomyopathy
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
OMIM:613152	muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
ORPHA:272	Fukuda-Miyanomae-Nakata syndrome muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
OMIM:236670	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
OMIM:253800	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
OMIM:611588	autosomal recessive limb-girdle muscular dystrophy type 2M
ORPHA:588	muscle-eye-brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
OMIM:611615	dilated cardiomyopathy 1X

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 81 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	173469	WB:WBGene00020307
Caenorhabditis elegans	188207	WB:WBGene00011554
Caenorhabditis elegans	189104	WB:WBGene00020924
Caenorhabditis elegans	189107	WB:WBGene00020927
Caenorhabditis elegans	189504	WB:WBGene00021249
Danio rerio	100006345	ZFIN:ZDB-GENE-070410-96	DANRE35456
Ictalurus punctatus	108259698		ICTPU23339
Electrophorus electricus	113582820		ELEEL30070
Salmo trutta	115160178		SALTR70125
Gadus morhua	115531894		GADMO24802

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements