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    ETNK2 ethanolamine kinase 2 [ Homo sapiens (human) ]

    Gene ID: 55224, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ETNK2provided by HGNC
    Official Full Name
    ethanolamine kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:25575
    See related
    Ensembl:ENSG00000143845 MIM:609859; AllianceGenome:HGNC:25575
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EKI2; HMFT1716
    Summary
    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]
    Expression
    Biased expression in testis (RPKM 38.7), liver (RPKM 35.9) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q32.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (204131062..204152044, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (203395220..203416192, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (204100190..204121172, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 303 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204035195-204035714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204037795-204038296 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204042922-204043614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204044309-204045000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:204046628-204047556 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204047557-204048485 Neighboring gene Sharpr-MPRA regulatory region 2526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204051273-204052200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204056259-204056803 Neighboring gene SRY-box transcription factor 13 Neighboring gene HNF4 motif-containing MPRA enhancer 209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204076334-204077177 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204077178-204078020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204078021-204078864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204094655-204095156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204095157-204095656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204099007-204099510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204099511-204100013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204100030-204100566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204100567-204101102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:204120251-204120950 Neighboring gene estrogen receptor responsive lncRNA 1 Neighboring gene REN promoter and enhancer region Neighboring gene renin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:204147944-204148444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2359 Neighboring gene KiSS-1 metastasis suppressor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Hepatic metastasis of gastric cancer is associated with enhanced expression of ethanolamine kinase 2 via the p53-Bcl-2 intrinsic apoptosis pathway. Miwa T, et al. Br J Cancer, 2021 Apr. PMID 33531692, Free PMC Article
    2. Overexpression of a mammalian ethanolamine-specific kinase accelerates the CDP-ethanolamine pathway. Lykidis A, et al. J Biol Chem, 2001 Jan 19. PMID 11044454
    3. Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study. Moyer AM, et al. Toxicol Sci, 2011 Mar. PMID 21177773, Free PMC Article
    4. Placental thrombosis and spontaneous fetal death in mice deficient in ethanolamine kinase 2. Tian Y, et al. J Biol Chem, 2006 Sep 22. PMID 16861741
    5. Eki2 is upregulated specifically in the testis during mouse sex determination. Hurley TM, et al. Gene Expr Patterns, 2004 Mar. PMID 15161093

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hepatic metastasis of gastric cancer is associated with enhanced expression of ethanolamine kinase 2 via the p53-Bcl-2 intrinsic apoptosis pathway.
      Title: Hepatic metastasis of gastric cancer is associated with enhanced expression of ethanolamine kinase 2 via the p53-Bcl-2 intrinsic apoptosis pathway.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10761

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ethanolamine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidylethanolamine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylethanolamine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in placenta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ethanolamine kinase 2
    Names
    ethanolamine kinase-like protein
    NP_001284689.1
    NP_001284690.1
    NP_001284691.1
    NP_060678.2
    XP_047280259.1
    XP_047280260.1
    XP_047280261.1
    XP_054193400.1
    XP_054193401.1
    XP_054193402.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001297760.2 → NP_001284689.1  ethanolamine kinase 2 isoform 2

      See identical proteins and their annotated locations for NP_001284689.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AA854978, AK001623, DB454429
      Consensus CDS
      CCDS73006.1
      Related
      ENSP00000356169.3, ENST00000367201.7
      Conserved Domains (1) summary
      cd05157
      Location:83 → 338
      ETNK_euk; Euykaryotic Ethanolamine kinase

    2. NM_001297761.2 → NP_001284690.1  ethanolamine kinase 2 isoform 3

      See identical proteins and their annotated locations for NP_001284690.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AA854978, AK001623, AK293426, DB454429
      UniProtKB/TrEMBL
      B7Z1G7
      Conserved Domains (1) summary
      cd05157
      Location:1 → 197
      ETNK_euk; Euykaryotic Ethanolamine kinase

    3. NM_001297762.2 → NP_001284691.1  ethanolamine kinase 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AA854978, AK001623, AK302145, DB454429
      UniProtKB/Swiss-Prot
      Q9NVF9
      Conserved Domains (1) summary
      cd05157
      Location:83 → 334
      ETNK_euk; Euykaryotic Ethanolamine kinase

    4. NM_018208.4 → NP_060678.2  ethanolamine kinase 2 isoform 1

      See identical proteins and their annotated locations for NP_060678.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC010082, DB454429
      Consensus CDS
      CCDS1442.2
      UniProtKB/Swiss-Prot
      B7Z7K1, Q5SXX5, Q68CK3, Q96G05, Q9NVF9
      Related
      ENSP00000356170.4, ENST00000367202.9
      Conserved Domains (1) summary
      cd05157
      Location:83 → 375
      ETNK_euk; Euykaryotic Ethanolamine kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      204131062..204152044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424303.1 → XP_047280259.1  ethanolamine kinase 2 isoform X1

    2. XM_047424304.1 → XP_047280260.1  ethanolamine kinase 2 isoform X2

      UniProtKB/TrEMBL
      B7Z1G7

    3. XM_047424305.1 → XP_047280261.1  ethanolamine kinase 2 isoform X2

      UniProtKB/TrEMBL
      B7Z1G7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      203395220..203416192 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337425.1 → XP_054193400.1  ethanolamine kinase 2 isoform X1

    2. XM_054337426.1 → XP_054193401.1  ethanolamine kinase 2 isoform X2

      UniProtKB/TrEMBL
      B7Z1G7

    3. XM_054337427.1 → XP_054193402.1  ethanolamine kinase 2 isoform X2

      UniProtKB/TrEMBL
      B7Z1G7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVF9.3 GenPept UniProtKB/Swiss-Prot:Q9NVF9

    Gene LinkOut

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