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 multiple transcript variants. [provided by RefSeq, Jul 2014] See more...

Aliases for ETNK2 Gene

Aliases for ETNK2 Gene

  • Ethanolamine Kinase 2 2 3 4 5
  • Ethanolamine Kinase-Like Protein 3 4
  • EKI2 3 4
  • EC 2.7.1.82 4
  • HMFT1716 3
  • EKI 2 4

External Ids for ETNK2 Gene

Previous GeneCards Identifiers for ETNK2 Gene

  • GC01M200832
  • GC01M202366
  • GC01M175267

Summaries for ETNK2 Gene

Entrez Gene Summary for ETNK2 Gene

  • 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 multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for ETNK2 Gene

ETNK2 (Ethanolamine Kinase 2) is a Protein Coding gene. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and ethanolamine kinase activity. An important paralog of this gene is ETNK1.

UniProtKB/Swiss-Prot Summary for ETNK2 Gene

  • Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity (By similarity).

Additional gene information for ETNK2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETNK2 Gene

Genomics for ETNK2 Gene

GeneHancer (GH) Regulatory Elements for ETNK2 Gene

Promoters and enhancers for ETNK2 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 ETNK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ETNK2 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • CREB
  • deltaCREB

Genomic Locations for ETNK2 Gene

Genomic Locations for ETNK2 Gene
chr1:204,131,061-204,152,182
(GRCh38/hg38)
Size:
21,122 bases
Orientation:
Minus strand
chr1:204,100,190-204,121,307
(GRCh37/hg19)
Size:
21,118 bases
Orientation:
Minus strand

Genomic View for ETNK2 Gene

Genes around ETNK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETNK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETNK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETNK2 Gene

Proteins for ETNK2 Gene

  • Protein details for ETNK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVF9-EKI2_HUMAN
    Recommended name:
    Ethanolamine kinase 2
    Protein Accession:
    Q9NVF9
    Secondary Accessions:
    • B7Z7K1
    • Q5SXX5
    • Q68CK3
    • Q96G05

    Protein attributes for ETNK2 Gene

    Size:
    386 amino acids
    Molecular mass:
    44781 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAH13637.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ETNK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETNK2 Gene

Post-translational modifications for ETNK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ETNK2 Gene

Domains & Families for ETNK2 Gene

Gene Families for ETNK2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ETNK2 Gene

Suggested Antigen Peptide Sequences for ETNK2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79392, highly similar to Ethanolamine kinase 2 (EC 2.7.1.82) (B7Z1G7_HUMAN)
  • Ethanolamine kinase 2 (B7ZC33_HUMAN)
  • Ethanolamine kinase 2 (B7ZC34_HUMAN)
  • Ethanolamine kinase-like protein (EKI2_HUMAN)
  • Ethanolamine kinase 2 (Q5SXX7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NVF9

UniProtKB/Swiss-Prot:

EKI2_HUMAN :
  • Belongs to the choline/ethanolamine kinase family.
Family:
  • Belongs to the choline/ethanolamine kinase family.
genes like me logo Genes that share domains with ETNK2: view

Function for ETNK2 Gene

Molecular function for ETNK2 Gene

UniProtKB/Swiss-Prot Function:
Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + ethanolamine = ADP + H(+) + phosphoethanolamine; Xref=Rhea:RHEA:13069, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57603, ChEBI:CHEBI:58190, ChEBI:CHEBI:456216; EC=2.7.1.82;.

Enzyme Numbers (IUBMB) for ETNK2 Gene

Phenotypes From GWAS Catalog for ETNK2 Gene

Gene Ontology (GO) - Molecular Function for ETNK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004305 ethanolamine kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ETNK2: view
genes like me logo Genes that share phenotypes with ETNK2: view

Animal Models for ETNK2 Gene

MGI Knock Outs for ETNK2:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for ETNK2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ETNK2 Gene

Localization for ETNK2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETNK2 gene
Compartment Confidence
cytosol 4

Gene Ontology (GO) - Cellular Components for ETNK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ETNK2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ETNK2 Gene

Pathways & Interactions for ETNK2 Gene

genes like me logo Genes that share pathways with ETNK2: view

Pathways by source for ETNK2 Gene

UniProtKB/Swiss-Prot Q9NVF9-EKI2_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.

Gene Ontology (GO) - Biological Process for ETNK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001890 placenta development IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ETNK2: view

No data available for SIGNOR curated interactions for ETNK2 Gene

Drugs & Compounds for ETNK2 Gene

(3) Drugs for ETNK2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanolamine Experimental Pharma 0
Phosphorylcolamine Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for ETNK2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with ETNK2: view

Transcripts for ETNK2 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for ETNK2

Alternative Splicing Database (ASD) splice patterns (SP) for ETNK2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - - - -
SP5: - -
SP6: - -
SP7:
SP8:
SP9: - -

Relevant External Links for ETNK2 Gene

GeneLoc Exon Structure for
ETNK2
ECgene alternative splicing isoforms for
ETNK2

Expression for ETNK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ETNK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETNK2 Gene

This gene is overexpressed in Kidney - Cortex (x7.6), Liver (x7.6), and Testis (x7.0).

Protein differential expression in normal tissues from HIPED for ETNK2 Gene

This gene is overexpressed in Fetal ovary (33.2), Ovary (23.2), and Testis (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ETNK2 Gene



Protein tissue co-expression partners for ETNK2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ETNK2 Gene:

ETNK2

SOURCE GeneReport for Unigene cluster for ETNK2 Gene:

Hs.497469

mRNA Expression by UniProt/SwissProt for ETNK2 Gene:

Q9NVF9-EKI2_HUMAN
Tissue specificity: Expressed in kidney, liver, ovary, testis and prostate.

Evidence on tissue expression from TISSUES for ETNK2 Gene

  • Kidney(3.4)
  • Nervous system(3.1)
  • Liver(2.5)
genes like me logo Genes that share expression patterns with ETNK2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ETNK2 Gene

Orthologs for ETNK2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETNK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ETNK2 33 32
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ETNK2 33 32
  • 90.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ETNK2 33 32
  • 89.7 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Etnk2 17 33 32
  • 86.67 (n)
oppossum
(Monodelphis domestica)
Mammalia ETNK2 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETNK2 33
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETNK2 33 32
  • 71.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETNK2 33
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii etnk2 33 32
  • 69.49 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta eas 33
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ckc-1 33
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EKI1 33
  • 16 (a)
ManyToMany
CKI1 33
  • 14 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1187 32
  • 47.59 (n)
rice
(Oryza sativa)
Liliopsida Os09g0438400 32
  • 41.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1866 33
  • 43 (a)
OneToMany
Species where no ortholog for ETNK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ETNK2 Gene

ENSEMBL:
Gene Tree for ETNK2 (if available)
TreeFam:
Gene Tree for ETNK2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETNK2: view image

Paralogs for ETNK2 Gene

Paralogs for ETNK2 Gene

(5) SIMAP similar genes for ETNK2 Gene using alignment to 10 proteins:

  • EKI2_HUMAN
  • B7Z1G7_HUMAN
  • B7ZC34_HUMAN
  • B7ZC35_HUMAN
  • H0Y771_HUMAN
  • J3KP68_HUMAN
  • L8ECH7_HUMAN
  • Q5SXX4_HUMAN
  • Q5SXX7_HUMAN
  • Q5SXX8_HUMAN

Pseudogenes.org Pseudogenes for ETNK2 Gene

genes like me logo Genes that share paralogs with ETNK2: view

Variants for ETNK2 Gene

Sequence variations from dbSNP and Humsavar for ETNK2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000148483 -- 204,145,317(-) G/A intron_variant
rs1000284345 -- 204,134,595(-) A/G coding_sequence_variant, intron_variant, missense_variant
rs1000302883 -- 204,148,744(-) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000394921 -- 204,149,910(-) T/C 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant
rs1000752131 -- 204,143,622(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ETNK2 Gene

Variant ID Type Subtype PubMed ID
esv2762138 CNV gain 21179565
nsv826398 CNV gain 20364138

Variation tolerance for ETNK2 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.11; 80.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETNK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETNK2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETNK2 Gene

Disorders for ETNK2 Gene

Additional Disease Information for ETNK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ETNK2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ETNK2 Gene

Publications for ETNK2 Gene

  1. Male-female differences in the genetic regulation of t-PA and PAI-1 levels in a Ghanaian population. (PMID: 18953568) Schoenhard JA … Williams SM (Human genetics 2008) 3 23 43 56
  2. Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study. (PMID: 21177773) Moyer AM … Weinshilboum RM (Toxicological sciences : an official journal of the Society of Toxicology 2011) 3 43 56
  3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 43 56
  4. Placental thrombosis and spontaneous fetal death in mice deficient in ethanolamine kinase 2. (PMID: 16861741) Tian Y … Jackowski S (The Journal of biological chemistry 2006) 2 3 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for ETNK2 Gene

Sources for ETNK2 Gene