GK (glycerol kinase)

Gene

• Entrez ID: 2710
• Gene name: Glycerol kinase
• Gene symbol: GK
• Synonyms (NCBI Gene): GK1, GKD
• Chromosome: X
• Chromosome location: Xp21.2
• Summary: The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs132630328	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs132630329	C>T	Pathogenic	Coding sequence variant, stop gained
rs132630330	T>C	Pathogenic	Coding sequence variant, missense variant
rs132630331	A>G	Pathogenic	Coding sequence variant, missense variant
rs587776740	G>C	Pathogenic	Splice acceptor variant
rs1057520647	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1057520781	T>C	Pathogenic	Genic upstream transcript variant, splice donor variant, intron variant
rs1085307629	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1601910946	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021809	hsa-miR-132-3p	Microarray	17612493
MIRT047490	hsa-miR-10b-5p	CLASH	23622248
MIRT047490	hsa-miR-10b-5p	CLASH	23622248
MIRT1020037	hsa-miR-1324	CLIP-seq
MIRT1020038	hsa-miR-3156-5p	CLIP-seq
MIRT1020039	hsa-miR-4528	CLIP-seq
MIRT1020040	hsa-miR-3920	CLIP-seq
MIRT1020041	hsa-miR-4259	CLIP-seq
MIRT1020042	hsa-miR-4715-5p	CLIP-seq
MIRT2002083	hsa-miR-4503	CLIP-seq
MIRT1020039	hsa-miR-4528	CLIP-seq
MIRT2002084	hsa-miR-494	CLIP-seq
MIRT2002085	hsa-miR-548ae	CLIP-seq
MIRT2002086	hsa-miR-548aj	CLIP-seq
MIRT2002087	hsa-miR-548am	CLIP-seq
MIRT2002088	hsa-miR-548x	CLIP-seq
MIRT2235069	hsa-miR-1271	CLIP-seq
MIRT2235070	hsa-miR-182	CLIP-seq
MIRT2235071	hsa-miR-183	CLIP-seq
MIRT2235072	hsa-miR-3167	CLIP-seq
MIRT2235073	hsa-miR-3182	CLIP-seq
MIRT2235074	hsa-miR-3942-3p	CLIP-seq
MIRT2235075	hsa-miR-4323	CLIP-seq
MIRT2235076	hsa-miR-4328	CLIP-seq
MIRT2235077	hsa-miR-4470	CLIP-seq
MIRT2235078	hsa-miR-4690-3p	CLIP-seq
MIRT2235079	hsa-miR-4802-5p	CLIP-seq
MIRT2235080	hsa-miR-876-5p	CLIP-seq
MIRT2235081	hsa-miR-96	CLIP-seq
MIRT2437415	hsa-miR-101	CLIP-seq
MIRT2437416	hsa-miR-1245	CLIP-seq
MIRT2437417	hsa-miR-128	CLIP-seq
MIRT2437418	hsa-miR-27a	CLIP-seq
MIRT2437419	hsa-miR-27b	CLIP-seq
MIRT2437420	hsa-miR-3064-3p	CLIP-seq
MIRT2437421	hsa-miR-3609	CLIP-seq
MIRT2437422	hsa-miR-369-3p	CLIP-seq
MIRT2437423	hsa-miR-374a	CLIP-seq
MIRT2437424	hsa-miR-374b	CLIP-seq
MIRT2437425	hsa-miR-4680-5p	CLIP-seq
MIRT2437426	hsa-miR-4699-3p	CLIP-seq
MIRT2437427	hsa-miR-4714-3p	CLIP-seq
MIRT2437428	hsa-miR-513a-5p	CLIP-seq
MIRT2437429	hsa-miR-513b	CLIP-seq
MIRT2437430	hsa-miR-520g	CLIP-seq
MIRT2437431	hsa-miR-520h	CLIP-seq
MIRT2437432	hsa-miR-548ah	CLIP-seq
MIRT2437433	hsa-miR-944	CLIP-seq
MIRT2538895	hsa-miR-106a	CLIP-seq
MIRT2538896	hsa-miR-106b	CLIP-seq
MIRT2538897	hsa-miR-1224-3p	CLIP-seq
MIRT2538898	hsa-miR-1234	CLIP-seq
MIRT2538899	hsa-miR-125a-3p	CLIP-seq
MIRT2235069	hsa-miR-1271	CLIP-seq
MIRT2538900	hsa-miR-150	CLIP-seq
MIRT2538901	hsa-miR-17	CLIP-seq
MIRT2235070	hsa-miR-182	CLIP-seq
MIRT2538902	hsa-miR-1913	CLIP-seq
MIRT2538903	hsa-miR-20a	CLIP-seq
MIRT2538904	hsa-miR-20b	CLIP-seq
MIRT2538905	hsa-miR-302a	CLIP-seq
MIRT2538906	hsa-miR-302b	CLIP-seq
MIRT2538907	hsa-miR-302c	CLIP-seq
MIRT2538908	hsa-miR-302d	CLIP-seq
MIRT2538909	hsa-miR-302e	CLIP-seq
MIRT2235072	hsa-miR-3167	CLIP-seq
MIRT2538910	hsa-miR-3186-5p	CLIP-seq
MIRT2538911	hsa-miR-324-3p	CLIP-seq
MIRT2538912	hsa-miR-372	CLIP-seq
MIRT2538913	hsa-miR-373	CLIP-seq
MIRT2538914	hsa-miR-3934	CLIP-seq
MIRT2235076	hsa-miR-4328	CLIP-seq
MIRT2235077	hsa-miR-4470	CLIP-seq
MIRT2538915	hsa-miR-4731-5p	CLIP-seq
MIRT2538916	hsa-miR-512-3p	CLIP-seq
MIRT2538917	hsa-miR-519d	CLIP-seq
MIRT2538918	hsa-miR-520a-3p	CLIP-seq
MIRT2538919	hsa-miR-520b	CLIP-seq
MIRT2538920	hsa-miR-520c-3p	CLIP-seq
MIRT2538921	hsa-miR-520d-3p	CLIP-seq
MIRT2538922	hsa-miR-520e	CLIP-seq
MIRT2437430	hsa-miR-520g	CLIP-seq
MIRT2437431	hsa-miR-520h	CLIP-seq
MIRT2538923	hsa-miR-764	CLIP-seq
MIRT2235080	hsa-miR-876-5p	CLIP-seq
MIRT2538924	hsa-miR-93	CLIP-seq
MIRT2235081	hsa-miR-96	CLIP-seq
MIRT2235069	hsa-miR-1271	CLIP-seq
MIRT2235070	hsa-miR-182	CLIP-seq
MIRT2235072	hsa-miR-3167	CLIP-seq
MIRT2235076	hsa-miR-4328	CLIP-seq
MIRT2235077	hsa-miR-4470	CLIP-seq
MIRT2235080	hsa-miR-876-5p	CLIP-seq
MIRT2235081	hsa-miR-96	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PPARG	Activation	14749268

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004370	Function	Glycerol kinase activity	IBA
GO:0004370	Function	Glycerol kinase activity	IDA	15845384, 37021775
GO:0004370	Function	Glycerol kinase activity	IEA
GO:0004370	Function	Glycerol kinase activity	IMP	8651297
GO:0004370	Function	Glycerol kinase activity	NAS	8401584
GO:0004370	Function	Glycerol kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	21988832, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	15845384
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	15845384
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	IDA	15845384
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006071	Process	Glycerol metabolic process	IBA
GO:0006071	Process	Glycerol metabolic process	IEA
GO:0006071	Process	Glycerol metabolic process	IMP	8499898
GO:0006072	Process	Glycerol-3-phosphate metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IBA
GO:0006641	Process	Triglyceride metabolic process	IMP	8651297
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IEA
GO:0019432	Process	Triglyceride biosynthetic process	TAS
GO:0019563	Process	Glycerol catabolic process	IEA
GO:0046167	Process	Glycerol-3-phosphate biosynthetic process	IBA
GO:0046167	Process	Glycerol-3-phosphate biosynthetic process	IDA	15845384, 37021775
GO:0046167	Process	Glycerol-3-phosphate biosynthetic process	IMP	8651297
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 300474
• HGNC: 4289
• e!Ensembl: ENSG00000198814

Protein

• UniProt ID: P32189
• Protein name: Glycerol kinase (Glycerokinase) (EC 2.7.1.30) (ATP:glycerol 3-phosphotransferase)
• Protein function: Kinase that plays a key role in glycerol metabolism, catalyzing its phosphorylation to produce sn-glycerol 3-phosphate. Sn-glycerol 3-phosphate is a crucial intermediate in various metabolic pathways, such as the synthesis of glycerolipids and t
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00370	FGGY_N	12 → 272	FGGY family of carbohydrate kinases, N-terminal domain	Domain
  PF02782	FGGY_C	281 → 473	FGGY family of carbohydrate kinases, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 2]: Widely expressed in fetal and adult tissues. {ECO:0000269|PubMed:15845384}.; TISSUE SPECIFICITY: [Isoform 3]: Widely expressed in fetal and adult tissues. {ECO:0000269|PubMed:15845384}.; TISSUE SPECIFICITY: [Isoform 4]: Th
• Sequence:

  MAASKKAVLGPLVGAVDQGTSSTRFLVFNSKTAELLSHHQVEIKQEFPREGWVEQDPKEI
  LHSVYECIEKTCEKLGQLNIDISNIKAIGVSNQRETTVVWDKITGEPLYNAVVWLDLRTQ
  STVESLSKRIPGNNNFVKSKTGLPLSTYFSAVKLRWLLDNVRKVQKAVEEKRALFGTIDS
  WLIWSLTGGVNGGVHCTDVTNASRTMLFNIHSLEWDKQLCEFFGIPMEILPNVRSSSEIY
  GLMKISHSVKAGALEGVPISGCLGDQSAALVGQMCFQIGQAKNTYGTGCFLLCNTGHKCV
  FSDHGLLTTVAYKLGRDKPVYYALEGSVAIAGAVIRWLRDNLGIIKTSEEIEKLAKEVGT
  SYGCYFVPAFSGLYAPYWEPSARGIICGLTQFTNKCHIAFAALEAVCFQTREILDAMNRD
  CGIPLSHLQVDGGMTSNKILMQLQADILYIPVVKPSMPETTALGAAMAAGAAEGVGVWSL
  EPEDLSAVTMERFEPQINAEESEIRYSTWKKAVMKSMGWVTTQSPESGDPSIFCSLPLGF
  FIVSSMVMLIGARYISGIP

• Sequence length: 559

Pathways

KEGG:

Glycerolipid metabolism
Metabolic pathways
PPAR signaling pathway

Reactome:

Triglyceride biosynthesis

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
GK-related disorder	Likely pathogenic	rs2519209274	RCV003405848	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inborn glycerol kinase deficiency	Pathogenic; Likely pathogenic	rs766772846, rs587776740, rs132630328, rs132630329, rs132630330, rs132630331, rs2519279079, rs2519279463, rs1933016162	RCV002250018 RCV000011688 RCV000011690 RCV000011692 RCV000011693 RCV000011695 RCV004566555 RCV004584286 RCV003336363	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs2519279463, rs1935220169	RCV005939493 RCV005913652	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2147218235, rs1935220169	RCV005917765 RCV005913653	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Absent speech	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF GLYCEROL KINASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	9447607		★☆☆☆☆ Found in Text Mining only
Complex Glycerol Kinase Deficiency	Complex Glycerol Kinase Deficiency	BEFREE	15684452		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	16938872, 19617908	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	11032329, 1301166, 1463011, 15684452, 2837087, 2852474, 3397058, 7752004, 8033374, 8314578		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	22780915	Associate	★☆☆☆☆ Found in Text Mining only
Deficiency of galactokinase	Deficiency Of Galactokinase	BEFREE	10521295		★☆☆☆☆ Found in Text Mining only
Deficiency of glycerol kinase	Deficiency Of Glycerol Kinase	UNIPROT_DG	10736265, 8651297, 9719371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of glycerol kinase	Deficiency Of Glycerol Kinase	GENOMICS_ENGLAND_DG	10736265, 8651297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of glycerol kinase	Deficiency Of Glycerol Kinase	BEFREE	11032329, 14654354, 15684452, 16025401, 19121967, 2837087, 2906226, 8033374, 8651297, 9719371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of glycerol kinase	Deficiency Of Glycerol Kinase	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of glycerol kinase	Deficiency Of Glycerol Kinase	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	18762570	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30821173		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25012807	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	14654354, 30821173		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	16938872, 29885360	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	16938872, 19617908, 36342518, 37021775	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19121967		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	26980296	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycerol kinase deficiency, adult form	Glycerol Kinase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Glycerol kinase deficiency, juvenile form	Glycerol Kinase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	2852474		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	17082186, 22291974	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	2852474		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	1601004, 2564327		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	14654354		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	8651297		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10196316	Associate	★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	8651297		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	16938872	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	39199385	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	1463011, 17089405	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	11032329, 1463011, 15684452, 2837087, 2852474, 31219797, 8033374, 8314578, 8357005		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19121967, 29300344		★☆☆☆☆ Found in Text Mining only
Ocular albinism, type II	Ocular albinism	BEFREE	8357005		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	39199385	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	8357005		★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	31093495	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	11032329, 1301166, 1463011, 15684452, 19339795, 2837087, 2852474, 3003318, 3397058, 7752004, 8033374, 8314578		★☆☆☆☆ Found in Text Mining only