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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2712
Gene name	Glycerol kinase 2
Gene symbol	GK2
Synonyms (NCBI Gene)	GKP2GKTA
Chromosome	4
Chromosome location	4q21.21

Show/Hide all (11)

miRTarBase ID	miRNA	Experiments
MIRT1020028	hsa-miR-1302	CLIP-seq
MIRT1020029	hsa-miR-3122	CLIP-seq
MIRT1020030	hsa-miR-3662	CLIP-seq
MIRT1020031	hsa-miR-380	CLIP-seq
MIRT1020032	hsa-miR-3913-5p	CLIP-seq
MIRT1020033	hsa-miR-3924	CLIP-seq
MIRT1020034	hsa-miR-4298	CLIP-seq
MIRT1020035	hsa-miR-4495	CLIP-seq
MIRT1020036	hsa-miR-635	CLIP-seq
MIRT2002081	hsa-miR-4457	CLIP-seq
MIRT2002082	hsa-miR-513b	CLIP-seq

Show/Hide all (34)

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	IEA
GO:0004370	Function	Glycerol kinase activity	NAS	7987308
GO:0005515	Function	Protein binding	IPI	28852571, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	ISS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006071	Process	Glycerol metabolic process	IBA
GO:0006071	Process	Glycerol metabolic process	IEA
GO:0006072	Process	Glycerol-3-phosphate metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
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:0019563	Process	Glycerol catabolic process	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0046167	Process	Glycerol-3-phosphate biosynthetic process	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097225	Component	Sperm midpiece	IDA	28852571
GO:0097226	Component	Sperm mitochondrial sheath	IEA
GO:0097226	Component	Sperm mitochondrial sheath	ISS
GO:0120317	Process	Sperm mitochondrial sheath assembly	IEA
GO:0120317	Process	Sperm mitochondrial sheath assembly	ISS

MIM	HGNC	e!Ensembl
600148	4291	ENSG00000196475

Q14410

Protein name

Glycerol kinase 2 (GK 2) (Glycerokinase 2) (EC 2.7.1.30) (ATP:glycerol 3-phosphotransferase 2) (Glycerol kinase, testis specific 2)

Protein function

Key enzyme in the regulation of glycerol uptake and metabolism. Essential for male fertility and sperm mitochondrial sheath formation (By similarity). Required for proper arrangement of crescent-like mitochondria to form the mitochondrial sheath

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00370	FGGY_N	12 → 266	FGGY family of carbohydrate kinases, N-terminal domain	Domain
PF02782	FGGY_C	275 → 467	FGGY family of carbohydrate kinases, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Testis-specific (PubMed:33536340). Expressed in the midpiece of spermatozoa (PubMed:28852571). {ECO:0000269|PubMed:28852571, ECO:0000269|PubMed:33536340}.

Sequence

MAAPKTAAVGPLVGAVVQGTNSTRFLVFNSKTAELLSHHKVELTQEFPKEGWVEQDPKEI
LQSVYECIARTCEKLDELNIDISNIKAVGVSNQRETTVIWDKLTGEPLYNAVVWLDLRTQ
TTVEDLSKKIPGNSNFVKSKTGLPLSTYFSAVKLRWMLDNVRNVQKAVEEGRALFGTIDS
WLIWSLTGGVNGGVHCTDVTNASRTMLFNIHSLEWDKELCDFFEIPMDLLPNVFSSSEIY
GLIKTGALEGVPISGCLGDQCAALVGQMCFQEGQAKNTYGTGCFLLCNTGRKCVFSEHGL
LTTVAYKLGREKPAYYALEGSVAIAGAVIRWLRDNLGIIETSGDIERLAKEVGTSYGCYF
VPAFSGLYAPYWEPSARGILCGLTQFTNKCHIAFAALEAVCFQTREILEAMNRDCGIPLR
HLQVDGGMTNNKVLMQLQADILHIPVIKPFMPETTALGAAMAAGAAEGVSVWSLEPQALS
VLRMERFEPQIQATESEIRYATWKKAVMKSMGWVTSQSPEGGDPSIFSSLPLGFFIVSSM
VMLIGARYISGVP

Sequence length

553

Interactions

View interactions

	KEGG		Reactome
	Glycerolipid metabolism Metabolic pathways PPAR signaling pathway		Triglyceride biosynthesis

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 Unknown Diseases (2)

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.
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	26289852, 31469419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31469419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31469419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GK2 (glycerol kinase 2)