Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26007
Gene name	Triokinase and FMN cyclase
Gene symbol	TKFC
Synonyms (NCBI Gene)	DAKNET45TKFCD
Chromosome	11
Chromosome location	11q12.2
Summary	This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4`,5`-phosphate (aka cycl

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs547013163	G>T	Pathogenic	Missense variant, intron variant, coding sequence variant, 3 prime UTR variant
rs1590578831	G>A	Pathogenic	Coding sequence variant, missense variant

111

Show/Hide all (111)

miRTarBase ID	miRNA	Experiments	Reference
MIRT740987	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT740988	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT740989	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT740990	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT740991	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT740992	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT740993	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT740994	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT740995	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT740996	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT740997	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT740998	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT740999	hsa-miR-302e	HITS-CLIP	23313552
MIRT741000	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT741001	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT741002	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT741003	hsa-miR-520b	HITS-CLIP	23313552
MIRT741004	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT741005	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT741006	hsa-miR-520e	HITS-CLIP	23313552
MIRT741007	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT741008	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT741009	hsa-miR-520h	HITS-CLIP	23313552
MIRT741010	hsa-miR-3934-5p	HITS-CLIP	23313552
MIRT741011	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT741012	hsa-miR-4485-5p	HITS-CLIP	23313552
MIRT741013	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT741014	hsa-miR-212-5p	HITS-CLIP	23313552
MIRT741015	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT741016	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT741017	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT741018	hsa-miR-3665	HITS-CLIP	23313552
MIRT741019	hsa-miR-657	HITS-CLIP	23313552
MIRT741020	hsa-miR-4763-5p	HITS-CLIP	23313552
MIRT741021	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT741022	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT741023	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT741024	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT741025	hsa-miR-6511b-5p	HITS-CLIP	23313552
MIRT741026	hsa-miR-6811-5p	HITS-CLIP	23313552
MIRT741027	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT741028	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT740987	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT740988	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT740989	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT740990	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT740991	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT740992	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT740993	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT740994	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT740999	hsa-miR-302e	HITS-CLIP	23313552
MIRT741000	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT741001	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT741002	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT741003	hsa-miR-520b	HITS-CLIP	23313552
MIRT741004	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT741005	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT741006	hsa-miR-520e	HITS-CLIP	23313552
MIRT741007	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT741008	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT741009	hsa-miR-520h	HITS-CLIP	23313552
MIRT741010	hsa-miR-3934-5p	HITS-CLIP	23313552
MIRT741011	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT741015	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT741016	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT741017	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT741018	hsa-miR-3665	HITS-CLIP	23313552
MIRT741019	hsa-miR-657	HITS-CLIP	23313552
MIRT741021	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT741022	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT741023	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT741024	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT741025	hsa-miR-6511b-5p	HITS-CLIP	23313552
MIRT741026	hsa-miR-6811-5p	HITS-CLIP	23313552
MIRT741027	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT741028	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT741007	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT741010	hsa-miR-3934-5p	PAR-CLIP	23446348
MIRT754659	hsa-miR-1234-3p	PAR-CLIP	23446348
MIRT754660	hsa-miR-7107-5p	PAR-CLIP	23446348
MIRT754661	hsa-miR-3064-5p	PAR-CLIP	23446348
MIRT754662	hsa-miR-6504-5p	PAR-CLIP	23446348
MIRT741016	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT741017	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT741018	hsa-miR-3665	PAR-CLIP	23446348
MIRT741019	hsa-miR-657	PAR-CLIP	23446348
MIRT741021	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT741022	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT754663	hsa-miR-604	PAR-CLIP	23446348
MIRT754664	hsa-miR-6762-3p	PAR-CLIP	23446348
MIRT754665	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT741025	hsa-miR-6511b-5p	PAR-CLIP	23446348
MIRT741026	hsa-miR-6811-5p	PAR-CLIP	23446348
MIRT754666	hsa-miR-647	PAR-CLIP	23446348
MIRT741028	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT754987	hsa-miR-3675-5p	PAR-CLIP	23592263
MIRT754988	hsa-miR-4755-3p	PAR-CLIP	23592263
MIRT754989	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT754990	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT754991	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT754992	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT754993	hsa-miR-4271	PAR-CLIP	23592263
MIRT754994	hsa-miR-4725-3p	PAR-CLIP	23592263
MIRT754995	hsa-miR-6780b-5p	PAR-CLIP	23592263
MIRT754996	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT754997	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT754998	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT754999	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT755000	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT755001	hsa-miR-4710	PAR-CLIP	23592263
MIRT755002	hsa-miR-1227-5p	PAR-CLIP	23592263

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004371	Function	Glycerone kinase activity	IBA
GO:0004371	Function	Glycerone kinase activity	IDA	4688871, 16289032, 32004446
GO:0004371	Function	Glycerone kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	17600090, 25416956
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IDA	4688871, 16289032
GO:0006071	Process	Glycerol metabolic process	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019563	Process	Glycerol catabolic process	IBA
GO:0034012	Function	FAD-AMP lyase (cyclizing) activity	IDA	16289032
GO:0034012	Function	FAD-AMP lyase (cyclizing) activity	IEA
GO:0039534	Process	Negative regulation of MDA-5 signaling pathway	IDA	17600090
GO:0045088	Process	Regulation of innate immune response	IDA	16289032
GO:0046835	Process	Carbohydrate phosphorylation	IDA	4688871
GO:0046872	Function	Metal ion binding	IEA
GO:0050354	Function	Triokinase activity	IDA	4688871, 32004446
GO:0050354	Function	Triokinase activity	IEA
GO:0061624	Process	Fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
615844	24552	ENSG00000149476

Q3LXA3

Protein name

Triokinase/FMN cyclase (Bifunctional ATP-dependent dihydroxyacetone kinase/FAD-AMP lyase (cyclizing)) [Includes: ATP-dependent dihydroxyacetone kinase (DHA kinase) (EC 2.7.1.28) (EC 2.7.1.29) (Glycerone kinase) (Triokinase) (Triose kinase); FAD-AMP lyase

Protein function

Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response (PubMed:1760009

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02733	Dak1	19 → 335	Dak1 domain	Family
PF02734	Dak2	398 → 571	DAK2 domain	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). {ECO:0000269|PubMed:4688871}.

Sequence

MTSKKLVNSVAGCADDALAGLVACNPNLQLLQGHRVALRSDLDSLKGRVALLSGGGSGHE
PAHAGFIGKGMLTGVIAGAVFTSPAVGSILAAIRAVAQAGTVGTLLIVKNYTGDRLNFGL
AREQARAEGIPVEMVVIGDDSAFTVLKKAGRRGLCGTVLIHKVAGALAEAGVGLEEIAKQ
VNVVAKAMGTLGVSLSSCSVPGSKPTFELSADEVELGLGIHGEAGVRRIKMATADEIVKL
MLDHMTNTTNASHVPVQPGSSVVMMVNNLGGLSFLELGIIADATVRSLEGRGVKIARALV
GTFMSALEMPGISLTLLLVDEPLLKLIDAETTAAAWPNVAAVSITGRKRSRVAPAEPQEA
PDSTAAGGSASKRMALVLERVCSTLLGLEEHLNALDRAAGDGDCGTTHSRAARAIQEWLK
EGPPPASPAQLLSKLSVLLLEKMGGSSGALYGLFLTAAAQPLKAKTSLPAWSAAMDAGLE
AMQKYGKAAPGDRTMLDSLWAAGQELQAWKSPGADLLQVLTKAVKSAEAAAEATKNMEAG
AGRASYISSARLEQPDPGAVAAAAILRAILEVLQS

Sequence length

575

Interactions

View interactions

	KEGG		Reactome
	Fructose and mannose metabolism Glycerolipid metabolism Metabolic pathways Carbon metabolism RIG-I-like receptor signaling pathway		DDX58/IFIH1-mediated induction of interferon-alpha/beta Fructose catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Inborn errors of metabolism	Likely pathogenic	rs547013163, rs1590578831	RCV001030070 RCV001030069	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TKFC deficiency	Likely pathogenic	rs547013163, rs1590578831	RCV001030070 RCV001030069	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triokinase and FMN cyclase deficiency syndrome	Likely pathogenic	rs547013163, rs1590578831	RCV001007642 RCV001007643	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CATARACT AND CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENGERS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TKFC-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	39251934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	39251934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	GENOMICS_ENGLAND_DG	32004446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	28478093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28478093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28478093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	32004446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	39251934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TKFC (triokinase and FMN cyclase)