Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ETNK2 Gene

Aliases for ETNK2 Gene

  • Ethanolamine Kinase 2 2 3 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 Metabolism and phosphatidylethanolamine biosynthesis II. 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 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 , fRNAdb sequence ontologies and piRNA Summary for ETNK2 Gene

Genomics for ETNK2 Gene

Regulatory Elements for ETNK2 Gene

Enhancers for ETNK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H204100 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +48.5 48529 5 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 BRCA1 ZBTB7B YY1 TCF12 SOX13 LAX1 ERLNC1 ETNK2 KRT8P29 CNTN2 SNRPE PPP1R15B ENSG00000261065
GH01H204361 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -210.9 -210902 3 HDGF PKNOX1 ATF1 FOXA2 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZC3H11A PPP1R15B MDM4 ENSG00000231691 GOLT1A ETNK2 ERLNC1 PLEKHA6 SOX13 LINC00628
GH01H204347 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.6 -197.7 -197668 4 PKNOX1 MXI1 KLF1 MAX BMI1 ZFHX2 GATA3 POLR2A EGR1 HNF4G PLEKHA6 ETNK2 ENSG00000231691 GOLT1A PPP1R15B PIK3C2B RPL21P19 LINC00628
GH01H204285 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -135.5 -135469 4 HDGF PKNOX1 ATF1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 GLIS2 GOLT1A PLEKHA6 ETNK2 ERLNC1 PIK3C2B ENSG00000231691 RPL21P19
GH01H204318 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -168.5 -168464 5 PKNOX1 ARNT SIN3A BRCA1 ZBTB7B TCF12 ZNF766 FOS DEK ZNF592 ZC3H11A MDM4 PLEKHA6 PPP1R15B ZBED6 SNRPE ENSG00000231691 ETNK2 SOX13 RPL21P19
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ETNK2 on UCSC Golden Path with GeneCards custom track

Promoters for ETNK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000018578 382 1201 ARNT ARID4B SIN3A ZNF76 GLIS2 THAP11 SP3 SP5 CEBPB REST

Genomic Location for ETNK2 Gene

Chromosome:
1
Start:
204,131,061 bp from pter
End:
204,152,182 bp from pter
Size:
21,122 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

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 CatalyticActivity:
ATP + ethanolamine = ADP + O-phosphoethanolamine.
UniProtKB/Swiss-Prot Function:
Highly specific for ethanolamine phosphorylation. Does not have choline kinase activity (By similarity).

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 TAS --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ETNK2
  • Applied Biological Materials Clones for ETNK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 5

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 Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with ETNK2: view

Transcripts for ETNK2 Gene

Unigene Clusters for ETNK2 Gene

Ethanolamine kinase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ETNK2
  • Applied Biological Materials Clones for ETNK2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

Primer Products

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 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia ETNK2 33 34
  • 90.68 (n)
cow
(Bos Taurus)
Mammalia ETNK2 33 34
  • 89.7 (n)
mouse
(Mus musculus)
Mammalia Etnk2 33 16 34
  • 86.67 (n)
oppossum
(Monodelphis domestica)
Mammalia ETNK2 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETNK2 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETNK2 33 34
  • 71.71 (n)
lizard
(Anolis carolinensis)
Reptilia ETNK2 34
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii etnk2 33 34
  • 69.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta eas 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ckc-1 34
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EKI1 34
  • 16 (a)
ManyToMany
CKI1 34
  • 14 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1187 33
  • 47.59 (n)
rice
(Oryza sativa)
Liliopsida Os09g0438400 33
  • 41.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1866 34
  • 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)

Paralogs for ETNK2 Gene

Paralogs for ETNK2 Gene

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 Sequence Context AA Info Type
rs1000148483 -- 204,145,317(+) AGGAA(A/G)CTGCA intron-variant
rs1000284345 -- 204,134,595(+) TGGAA(A/G)CAGAC intron-variant, reference, missense
rs1000302883 -- 204,148,744(+) GGGGT(A/T)AAGTG intron-variant, upstream-variant-2KB
rs1000394921 -- 204,149,910(+) GCATG(C/T)CCTCC intron-variant, reference, missense
rs1000752131 -- 204,143,622(+) AGCAG(A/G)AGGGG 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)

Relevant External Links for ETNK2 Gene

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

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

Disorders for ETNK2 Gene

Relevant External Links for ETNK2

Genetic Association Database (GAD)
ETNK2
Human Genome Epidemiology (HuGE) Navigator
ETNK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ETNK2

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 22 45 60
  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 45 60
  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 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Eki2 is upregulated specifically in the testis during mouse sex determination. (PMID: 15161093) Hurley TM … Sinclair AH (Gene expression patterns : GEP 2004) 3 22 60

Products for ETNK2 Gene

  • Addgene plasmids for ETNK2

Sources for ETNK2 Gene

Content
Loading form....