• Gene id: 55224

Gene Summary

• Gene Symbol: ETNK2   Gene   UCSC   Ensembl
• Aliases: EKI2, HMFT1716
• Gene name: ethanolamine kinase 2
• Alternate names: ethanolamine kinase 2, ethanolamine kinase-like protein,
• Gene location: 1q32.1 (83455931: 83462297)     Exons: 6     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is a member of choline/ethanolamine kinase family which catalyzes the first step of phosphatidylethanolamine (PtdEtn) biosynthesis via the cytidine diphosphate (CDP) ethanolamine pathway. Alternative splicing results in mu
• OMIM: 609859

Protein Summary

• Protein general information: Q9NVF9  
  • Name: Ethanolamine kinase 2 (EKI 2) (EC 2.7.1.82) (Ethanolamine kinase like protein)
  • Length: 386  
  • Mass: 44781
  • Tissue specificity: Expressed in kidney, liver, ovary, testis and prostate. {ECO
• Sequence:

  MAVPPSAPQPRASFHLRRHTPCPQCSWGMEEKAAASASCREPPGPPRAAAVAYFGISVDPDDILPGALRLIQELR
  PHWKPEQVRTKRFTDGITNKLVACYVEEDMQDCVLVRVYGERTELLVDRENEVRNFQLLRAHSCAPKLYCTFQNG
  LCYEYMQGVALEPEHIREPRLFRLIALEMAKIHTIHANGSLPKPILWHKMHNYFTLVKNEINPSLSADVPKVEVL
  ERELAWLKEHLSQLESPVVFCHNDLLCKNIIYDSIKGHVRFIDYEYAGYNYQAFDIGNHFNEFAGVNEVDYCLYP
  ARETQLQWLHYYLQAQKGMAVTPREVQRLYVQVNKFALASHFFWALWALIQNQYSTIDFDFLRYAVIRFNQYFKV
  KPQASALEMPK

• Structural information:
  • Interpro: IPR011009  
  • STRING: ENSP00000356169
• Other Databases: GeneCards:  ETNK2  Malacards:  ETNK2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008654	phospholipid biosynthetic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004305	ethanolamine kinase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009791	post-embryonic development	IEA	biological process
GO:0006646	phosphatidylethanolamine biosynthetic process	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0004305	ethanolamine kinase activity	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0006646	phosphatidylethanolamine biosynthetic process	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray