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ยฉ 2026 GeneE
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GeneE
10 sources retrieved ยท Most recent: April 2026 ยท Index updated 14 days ago
โ“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FKTN
fukutin
Chromosome 9 ยท 9q31.2
NCBI Gene: 2218Ensembl: ENSG00000106692.15HGNC: HGNC:3622UniProt: A0A2R8Y768
65PubMed Papers
24Diseases
0Drugs
171Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
โœ“ Experimental GO Evidenceโœ“ Swiss-Prot Reviewed
protein bindingphosphotransferase activity, for other substituted phosphate groupsprotein O-linked glycosylationnegative regulation of JNK cascadeCongenital muscular dystrophy, Fukuyama typemuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4autosomal recessive limb-girdle muscular dystrophy type 2Mmuscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
โœฆAI Summary

FKTN (fukutin) is a glycosyltransferase that catalyzes the transfer of ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine of phosphorylated O-mannosyl trisaccharide on alpha-dystroglycan, initiating formation of the ribitol 5-phosphate tandem repeat required for ligand binding 123. FKTN is essential for proper localization and activity of POMGNT1 in Golgi membranes and participates in a complex linking muscle membrane structures 45. Mechanistically, FKTN functions in protein O-linked glycosylation via mannose, operating within the cis-Golgi network and endoplasmic reticulum [GO annotations]. FKTN mutations cause dystroglycanopathies, a genetically heterogeneous group of congenital muscular dystrophies affecting glycosylation of alpha-dystroglycan 6. Pathogenic FKTN variants result in various phenotypes including limb-girdle muscular dystrophy, Walker-Warburg syndrome, congenital hydrocephalus, and dilated cardiomyopathy 789. Recent evidence indicates FKTN is enriched for regulatory variants in early-onset cardiomyopathy, with functional validation in patient myocardium 10. Additionally, FKTN downregulation contributes to pleiotropic manifestations in MORC2-related disorders 11, suggesting FKTN dysfunction has broader clinical implications beyond classical dystroglycanopathies.

Sources cited
1
FKTN catalyzes ribitol-phosphate transfer in O-mannosyl glycosylation of alpha-dystroglycan
PMID: 26923585
2
FKTN role in ribitol 5-phosphate tandem repeat formation
PMID: 27194101
3
FKTN function in alpha-dystroglycan glycosylation
PMID: 29477842
4
FKTN required for POMGNT1 Golgi localization and activity
PMID: 17034757
5
FKTN interaction with muscle membrane complex
PMID: 25279699
6
FKTN mutations identified in dystroglycanopathy patients with various clinical phenotypes
PMID: 33200426
7
FKTN compound variants associated with congenital hydrocephalus
PMID: 35843586
8
FKTN compound heterozygous variants cause congenital muscular dystrophy
PMID: 35810429
9
FKTN mutations linked to cardiomyopathy in carbohydrate metabolism disorders
PMID: 37239976
10
FKTN regulatory variants enriched in early-onset cardiomyopathy
PMID: 35288587
11
FKTN downregulation contributes to pleiotropic manifestations in MORC2 disorders
PMID: 40302207
Disease Associationsโ“˜24
Congenital muscular dystrophy, Fukuyama typeOpen Targets
0.83Strong
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4Open Targets
0.82Strong
autosomal recessive limb-girdle muscular dystrophy type 2MOpen Targets
0.81Strong
muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4Open Targets
0.78Strong
dilated cardiomyopathy 1XOpen Targets
0.77Strong
muscular dystrophy-dystroglycanopathy, type AOpen Targets
0.65Moderate
Congenital muscular alpha-dystroglycanopathy with brain and eye anomaliesOpen Targets
0.57Moderate
Abnormality of the cardiovascular systemOpen Targets
0.55Moderate
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1Open Targets
0.52Moderate
autosomal recessive dilated cardiomyopathyOpen Targets
0.48Moderate
myopathy caused by variation in FKTNOpen Targets
0.45Moderate
limb-girdle muscular dystrophyOpen Targets
0.37Weak
muscle-eye-brain diseaseOpen Targets
0.37Weak
congenital muscular dystrophy without intellectual disabilityOpen Targets
0.37Weak
familial isolated dilated cardiomyopathyOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
familial dilated cardiomyopathyOpen Targets
0.34Weak
migraine disorderOpen Targets
0.31Weak
ileostomyOpen Targets
0.29Weak
cataractOpen Targets
0.29Weak
Cardiomyopathy, dilated, 1XUniProt
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4UniProt
Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4UniProt
Muscular dystrophy-dystroglycanopathy limb-girdle C4UniProt
Pathogenic Variants171
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Autosomal recessive limb-girdle muscular dystrophy type 2M|not provided|Walker-Warburg congenital muscular dystrophy|FKTN-related disorder|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Autosomal recessive limb-girdle muscular dystrophy type 2M|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M|Cardiovascular phenotype|Dilated cardiomyopathy 1X
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 390
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)Pathogenic
Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 189
NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)Likely pathogenic
Dilated cardiomyopathy 1X|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 17
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)Pathogenic
Walker-Warburg congenital muscular dystrophy|not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Dilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1|Cardiovascular phenotype
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 203
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X|Cardiovascular phenotype
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 116
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|not provided|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 307
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 1X|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 215
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M|Dilated cardiomyopathy 1X
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 137
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)Pathogenic
not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M
โ˜…โ˜…โ˜†โ˜†2026โ†’ Residue 111
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 1X
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 369
NM_001079802.2(FKTN):c.369+1G>CPathogenic
not provided|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
โ˜…โ˜…โ˜†โ˜†2025
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)Pathogenic
Walker-Warburg congenital muscular dystrophy|Cardiovascular phenotype|Dilated cardiomyopathy 1X|FKTN-related disorder|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 421
NM_001079802.2(FKTN):c.406C>T (p.Gln136Ter)Pathogenic
Walker-Warburg congenital muscular dystrophy
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 136
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2M
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 37
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|not provided|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X|Cardiovascular phenotype
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 47
NM_001079802.2(FKTN):c.1172+1G>APathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X
โ˜…โ˜…โ˜†โ˜†2025
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2M|not provided|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X;Autosomal recessive limb-girdle muscular dystrophy type 2M|Dilated cardiomyopathy 1X|Cardiovascular phenotype|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Dilated cardiomyopathy 1X
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 307
NM_001079802.2(FKTN):c.1167del (p.Lys389fs)Pathogenic
not provided|Cardiovascular phenotype|Dilated cardiomyopathy 1X|Walker-Warburg congenital muscular dystrophy
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 389
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)Pathogenic
not provided|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1;Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M|Dilated cardiomyopathy 1X
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 154
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)Pathogenic
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|Cardiovascular phenotype|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X
โ˜…โ˜…โ˜†โ˜†2025โ†’ Residue 377
View on ClinVar โ†—
Related Genes
SGCAProtein interaction100%POMKProtein interaction98%SGCDProtein interaction98%CRPPAProtein interaction98%SGCBProtein interaction96%DYSFProtein interaction89%
Tissue Expression6 tissues
Ovary
100%
Heart
83%
Brain
69%
Liver
53%
Lung
50%
Bone Marrow
35%
Gene Interaction Network
Click a node to explore
FKTNSGCAPOMKSGCDCRPPASGCBDYSF
PROTEIN STRUCTURE
Preparing viewerโ€ฆ
AlphaFoldAI-predicted ยท UniProt O75072
View on AlphaFold โ†—
Constraintโ“˜
LOEUFโ“˜
1.02LoF Tolerant
pLIโ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.49โ€“1.02]
RankingsWhere FKTN stands among ~20K protein-coding genes
  • #7,169of 20,598
    Most Researched65
  • #436of 5,498
    Most Pathogenic Variants171 ยท top 10%
  • #10,045of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedFKTN
Sources retrieved10 papers
Response timeโ€”
๐Ÿ“„ Sources
10โ–ผ
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis ยท 2022
1.00
2
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
PMID: 33200426
Clin Genet ยท 2021
0.90
3
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
PMID: 35288587
NPJ Genom Med ยท 2022
0.80
4
Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.
PMID: 35302338
Eur J Transl Myol ยท 2022
0.70
5
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
PMID: 37239976
Int J Mol Sci ยท 2023
0.60