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The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dy... See more...
Aliases for FKTN Gene
Aliases for FKTN Gene
External Ids for FKTN Gene
- HGNC: 3622
- Entrez Gene: 2218
- Ensembl: ENSG00000106692
- OMIM: 607440
- UniProtKB: O75072
Previous HGNC Symbols for FKTN Gene
- FCMD
Previous GeneCards Identifiers for FKTN Gene
- GC09P107255
- GC09P107361
- GC09P108320
- GC09P077921
Summaries for FKTN Gene
-
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
GeneCards Summary for FKTN Gene
FKTN (Fukutin) is a Protein Coding gene. Diseases associated with FKTN include Muscular Dystrophy-Dystroglycanopathy , Type A, 4 and Muscular Dystrophy-Dystroglycanopathy , Type C, 4. Among its related pathways are Metabolism and Mannose type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity.
UniProtKB/Swiss-Prot Summary for FKTN Gene
-
Catalyzes the transfer of CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).
Additional gene information for FKTN Gene
- HGNC(3622)
- Entrez Gene(2218)
- Ensembl(ENSG00000106692)
- OMIM(607440)
- UniProtKB(O75072)
- Open Targets Platform(ENSG00000106692)
- Monarch Initiative
- Search for FKTN at DataMed
- Search for FKTN at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FKTN Gene
Genomics for FKTN Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FKTN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FKTN on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FKTN
- Top Transcription factor binding sites by QIAGEN in the FKTN gene promoter:
-
- AML1a
- C/EBPbeta
- CREB
- deltaCREB
- FAC1
- POU2F1
- POU2F1a
- S8
- TBP
- TFIID
Genomic Locations for FKTN Gene
Genomic Locations for FKTN Gene
- chr9:105,558,117-105,655,950
- (GRCh38/hg38)
- Size:
- 97,834 bases
- Orientation:
- Plus strand
- chr9:108,320,411-108,403,399
- (GRCh37/hg19)
- Size:
- 82,989 bases
- Orientation:
- Plus strand
Genomic View for FKTN Gene
Genes around FKTN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q31.2 by HGNC
- 9q31.2 by Entrez Gene
- 9q31.2 by Ensembl
FKTN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FKTN Gene
Proteins for FKTN Gene
-
Protein details for FKTN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75072-FKTN_HUMAN
- Recommended name:
- Fukutin
- Protein Accession:
- O75072
- B4DUX9
- J3KP13
- Q3MIJ1
- Q96TE1
- Q9P295
Protein attributes for FKTN Gene
- Size:
- 461 amino acids
- Molecular mass:
- 53724 Da
- Quaternary structure:
-
- Forms a complex composed of FKTN/fukutin, FKRP and RXYLT1/TMEM5 (PubMed:29477842). Interacts (via transmembrane domain) with POMGNT1; the interaction is direct and is required for normal POMGNT1 location in Golgi membranes (PubMed:17034757).
Protein Expression for FKTN Gene
Post-translational modifications for FKTN Gene
Other Protein References for FKTN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_006717077.1
- XP_011516670.1
- XP_011516671.1
- XP_011516672.1
- XP_011516673.1
- XP_011516675.1
- XP_011516676.1
- XP_011516677.1
- XP_011516678.1
- XP_011516680.1
- XP_011516681.1
- XP_011516683.1
- XP_011516689.1
- XP_011516692.1
- XP_011516693.1
- XP_016869951.1
- XP_016869952.1
- XP_016869953.1
- XP_016869954.1
- XP_016869956.1
- XP_016869957.1
- XP_016869958.1
- XP_016869959.1
- XP_016869961.1
- XP_016869962.1
- XP_016869964.1
- NP_001073270.1
- NP_001185892.1
- NP_001338425.1
- NP_001338426.1
- NP_001338427.1
- NP_001338428.1
- NP_001338429.1
- NP_001338430.1
- NP_001338431.1
- NP_006722.2
Antibody Products
- LifeSpan BioSciences FKTN / Fukutin Antibody
-
Custom Antibody ServicesOriGene Antibodies for FKTN
- Novus Biologicals Antibodies for FKTN
-
Abcam antibodies for FKTN
- Invitrogen Antibodies for FKTN (AFLGC-FKTN)
-
Boster Bio Antibodies for FKTN
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for FKTN
- Origene Custom Protein Services for FKTN
-
Abcam proteins for FKTN
Assay Products
- antibodies-online: Show 4 available Fukutin Elisa Kits ranked by validation data
- Compare Top Fukutin Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for FKTN Gene
Domains & Families for FKTN Gene
Gene Families for FKTN Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for FKTN Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FKTN Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ58999, highly similar to Fukutin (EC 2.-.-.-) (B4E2W4_HUMAN)
- Fukuyama-type congenital muscular dystrophy protein (FKTN_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O75072- Family:
-
- Belongs to the LicD transferase family.
Function for FKTN Gene
Molecular function for FKTN Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the transfer of CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).
Enzyme Numbers (IUBMB) for FKTN Gene
Phenotypes From GWAS Catalog for FKTN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17034757 |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for FKTN Gene
- MGI mutant phenotypes for FKTN:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for FKTN:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FKTN - Select products 50% OFF >
- * FKTN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FKTN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FKTN
-
Santa Cruz Biotechnology (SCBT) CRISPR for FKTN
miRNA for FKTN Gene
- miRTarBase miRNAs that target FKTN
-
- hsa-miR-26b-5p (MIRT030086)
- hsa-miR-30d-5p (MIRT047823)
- hsa-miR-196a-5p (MIRT048207)
- mmu-miR-1896 (MIRT602349)
- mmu-miR-149-5p (MIRT602350)
- mmu-miR-3085-3p (MIRT602351)
- mmu-miR-3087-3p (MIRT602352)
- mmu-miR-3064-5p (MIRT602353)
- mmu-miR-3470a (MIRT602354)
- hsa-miR-4279 (MIRT650736)
- hsa-miR-6829-3p (MIRT650737)
- hsa-miR-6791-3p (MIRT650738)
- hsa-miR-3653-5p (MIRT650739)
- hsa-miR-1976 (MIRT650740)
- hsa-miR-6747-3p (MIRT650741)
- hsa-miR-1914-5p (MIRT650742)
- hsa-miR-6727-3p (MIRT650743)
- hsa-miR-4722-3p (MIRT650744)
- hsa-miR-660-3p (MIRT650745)
- hsa-miR-8062 (MIRT650746)
- hsa-miR-4465 (MIRT665108)
- hsa-miR-26a-5p (MIRT665109)
- hsa-miR-1297 (MIRT665110)
- hsa-miR-6513-3p (MIRT665111)
- hsa-miR-7162-5p (MIRT677773)
- hsa-miR-516b-3p (MIRT677774)
- hsa-miR-516a-3p (MIRT677775)
- hsa-miR-2115-5p (MIRT677776)
- hsa-miR-6728-3p (MIRT677777)
- hsa-miR-4532 (MIRT677778)
- hsa-miR-1247-3p (MIRT677779)
- hsa-miR-106a-3p (MIRT715190)
- hsa-miR-573 (MIRT715191)
- hsa-miR-3616-5p (MIRT715192)
- hsa-miR-3648 (MIRT715193)
- hsa-miR-6869-3p (MIRT715194)
- hsa-miR-4795-5p (MIRT715195)
- hsa-miR-454-3p (MIRT715196)
- hsa-miR-4295 (MIRT715197)
- hsa-miR-3666 (MIRT715198)
- hsa-miR-301b-3p (MIRT715199)
- hsa-miR-301a-3p (MIRT715200)
- hsa-miR-130b-3p (MIRT715201)
- hsa-miR-130a-3p (MIRT715202)
- hsa-miR-4478 (MIRT715203)
- hsa-miR-4419b (MIRT715204)
- hsa-miR-3929 (MIRT715205)
- hsa-miR-519c-3p (MIRT715206)
- hsa-miR-519b-3p (MIRT715207)
- hsa-miR-519a-3p (MIRT715208)
- hsa-miR-1295b-3p (MIRT762346)
- hsa-miR-3186-5p (MIRT765285)
- hsa-miR-3199 (MIRT765506)
- hsa-miR-365a-5p (MIRT766434)
- hsa-miR-365b-5p (MIRT766443)
- hsa-miR-625-3p (MIRT776108)
- hsa-miR-6872-3p (MIRT780707)
- hsa-miR-767-5p (MIRT781943)
- hsa-miR-8052 (MIRT782296)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FKTN
- Browse OriGene Inhibitory RNA Products For FKTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKTN
Clone Products
- Applied Biological Materials (abm): Clones for FKTN - Select products 50% OFF >
- * FKTN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207355
- MR207355
- MR207355L3
- MR207355L4
- RC211422
- RC211422L1
- RC211422L2
- RC211422L3
- RC211422L4
- RC215400
- RC215400L3
- RC215400L4
- RC231225
- RC231225L3
- RC231225L4
- RG211422
- RG215400
- RG231225
- RR200635
- RR200635L3
- RR200635L4
- MR207355L3V
- MR207355L4V
- RC211422L1V
- RC211422L2V
- RC211422L3V
- RC211422L4V
- RC215400L3V
- RC215400L4V
- RC231225L3V
- RC231225L4V
- RR200635L3V
- RR200635L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FKTN
- Addgene plasmids for FKTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FKTN
No data available for Transcription Factor Targets and HOMER Transcription for FKTN Gene
Localization for FKTN Gene
Subcellular locations from UniProtKB/Swiss-Prot for FKTN Gene
- Golgi apparatus membrane. Single-pass type II membrane protein. Cytoplasm. Nucleus. Note=In retinal tissue, does not localize with the Golgi apparatus. {ECO:0000250 UniProtKB:Q8R507}.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| extracellular | 4 |
| nucleus | 4 |
| endoplasmic reticulum | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005615 | extracellular space | TAS | 9690476 |
| GO:0005634 | nucleus | IEA,IDA | 18808525 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IDA | 18808525 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for FKTN Gene
Pathways & Interactions for FKTN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mannose type O-glycan biosynthesis | ||
| 2 | Metabolism | ||
Pathways by source for FKTN Gene
2 KEGG pathways for FKTN Gene
UniProtKB/Swiss-Prot O75072-FKTN_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for FKTN Gene
GPS-Prot Interaction Network for FKTN
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0006493 | protein O-linked glycosylation | IMP | 17034757 |
| GO:0007399 | nervous system development | TAS | 9690476 |
| GO:0007517 | muscle organ development | TAS | 9690476 |
| GO:0008285 | negative regulation of cell proliferation | IMP | 18808525 |
No data available for SIGNOR curated interactions for FKTN Gene
Transcripts for FKTN Gene
mRNA/cDNA for FKTN Gene
- 10 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000223528 7364 nts (view in UCSC)
- ENST00000357998 2404 nts (view in UCSC)
- ENST00000374705 786 nts (view in UCSC)
- ENST00000448551 1700 nts (view in UCSC)
- ENST00000457847 606 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FKTN - Select products 50% OFF >
- * FKTN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FKTN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FKTN
-
Santa Cruz Biotechnology (SCBT) CRISPR for FKTN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FKTN
- Browse OriGene Inhibitory RNA Products For FKTN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKTN
Clone Products
- Applied Biological Materials (abm): Clones for FKTN - Select products 50% OFF >
- * FKTN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207355
- MR207355
- MR207355L3
- MR207355L4
- RC211422
- RC211422L1
- RC211422L2
- RC211422L3
- RC211422L4
- RC215400
- RC215400L3
- RC215400L4
- RC231225
- RC231225L3
- RC231225L4
- RG211422
- RG215400
- RG231225
- RR200635
- RR200635L3
- RR200635L4
- MR207355L3V
- MR207355L4V
- RC211422L1V
- RC211422L2V
- RC211422L3V
- RC211422L4V
- RC215400L3V
- RC215400L4V
- RC231225L3V
- RC231225L4V
- RR200635L3V
- RR200635L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FKTN
- Addgene plasmids for FKTN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FKTN
Relevant External Links for FKTN Gene
- GeneLoc Exon Structure for
- FKTN
Expression for FKTN Gene
This gene is overexpressed in Fetal Liver (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FKTN Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FKTN
SOURCE GeneReport for Unigene cluster for FKTN Gene:
Hs.55777mRNA Expression by UniProt/SwissProt for FKTN Gene:
O75072-FKTN_HUMAN
Tissue specificity:
Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMed:11115853). Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853). No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853).
Evidence on tissue expression from TISSUES for FKTN Gene
- Nervous system(4.6)
- Intestine(4.3)
- Muscle(2.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FKTN Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- cranial nerve
- ear
- eye
- face
- forehead
- head
- inner ear
- jaw
- larynx
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- outer ear
- pituitary gland
- skull
- tongue
- vocal cord
Thorax:
- breast
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- intestine
- kidney
- large intestine
Pelvis:
- anus
- ovary
- pelvis
- penis
- placenta
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vulva
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for FKTN
-
OriGene qPCR primer pairs and template standards for FKTN
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FKTN Gene
Orthologs for FKTN Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FKTN 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FKTN 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FKTN 31 |
|
OneToOne | |
| LOC536891 30 |
|
||||
| Mouse (Mus musculus) |
Mammalia | Fktn 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fktn 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | FKTN 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FKTN 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FKTN 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FKTN 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fktn 30 |
|
||
| Str.19568 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15752 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | fktn 30 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | W02B3.4 31 |
|
OneToMany | |
| T07D3.4 31 |
|
OneToMany | |||
| T07D3.6 31 |
|
OneToMany | |||
| T07A5.1 31 |
|
OneToMany | |||
| F28A10.9 31 |
|
OneToMany | |||
| W02B3.7 31 |
|
OneToMany | |||
| T07D3.5 31 |
|
OneToMany | |||
| Y22D7AL.11 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8045 30 |
|
- Species where no ortholog for FKTN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for FKTN Gene
- ENSEMBL:
- Gene Tree for FKTN (if available)
- TreeFam:
- Gene Tree for FKTN (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FKTN: view image
Paralogs for FKTN Gene
No data available for Paralogs for FKTN Gene
Variants for FKTN Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FKTN Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640673 | Uncertain Significance: Walker-Warburg congenital muscular dystrophy | 105,575,044(+) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 640945 | Uncertain Significance: Walker-Warburg congenital muscular dystrophy | 105,575,061(+) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 641209 | Uncertain Significance: Walker-Warburg congenital muscular dystrophy | 105,620,024(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 642125 | Uncertain Significance: Walker-Warburg congenital muscular dystrophy | 105,601,279(+) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 643177 | Uncertain Significance: Walker-Warburg congenital muscular dystrophy | 105,604,429(+) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv22929 | CNV | loss | 19812545 |
| esv2678852 | CNV | deletion | 23128226 |
| esv3621359 | CNV | loss | 21293372 |
| esv3891705 | CNV | loss | 25118596 |
| esv3891707 | CNV | gain | 25118596 |
| esv5990 | CNV | gain | 19470904 |
| nsv478494 | CNV | novel sequence insertion | 20440878 |
| nsv519023 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.40;
85.56% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FKTN Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKTN Gene
Disorders for FKTN Gene
(52) MalaCards diseases for FKTN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy-dystroglycanopathy , type a, 4 |
|
|
| muscular dystrophy-dystroglycanopathy , type c, 4 |
|
|
| cardiomyopathy, dilated, 1x |
|
|
| muscular dystrophy-dystroglycanopathy , type b, 4 |
|
|
| walker-warburg syndrome |
|
Search FKTN in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FKTN_HUMAN- Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) [MIM:253800]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:10545611, ECO:0000269 PubMed:17034757, ECO:0000269 PubMed:19179078, ECO:0000269 PubMed:22958903, ECO:0000269 PubMed:24530477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) [MIM:613152]: An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of mental retardation. {ECO:0000269 PubMed:14627679, ECO:0000269 PubMed:18177472, ECO:0000269 PubMed:19179078, ECO:0000269 PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) [MIM:611588]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids. {ECO:0000269 PubMed:17044012, ECO:0000269 PubMed:19342235}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Cardiomyopathy, dilated 1X (CMD1X) [MIM:611615]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:17036286}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FKTN
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for FKTN Gene
Publications for FKTN Gene
- Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E … Bertini E (Neurology 2009) 3 4 23 41
- Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. (PMID: 17044012) Godfrey C … Muntoni F (Annals of neurology 2006) 2 3 4 23
- Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. (PMID: 17036286) Murakami T … Nishino I (Annals of neurology 2006) 2 3 4 23
- Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. (PMID: 19179078) Vuillaumier-Barrot S … Seta N (Neuromuscular disorders : NMD 2009) 3 4 23
- Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. (PMID: 19342235) Puckett RL … Abdenur JE (Neuromuscular disorders : NMD 2009) 3 4 23
ExternalLinks
Products for FKTN Gene
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- MG207355
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- Addgene plasmids for FKTN
- antibodies-online: Show 45 available Fukutin Antibodies ranked by validation data
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- Boster Bio Antibodies for FKTN
- Browse Boster Bio ELISA Kits
Sources for FKTN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (27) ASD
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- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (48) IMGT
- (49) Leiden
- (50) miRBase
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- (53) PubMed
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- (55) TGDB
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- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
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