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ETNK2 ethanolamine kinase 2 [ Homo sapiens (human) ]

Gene ID: 55224, updated on 11-Jun-2021

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
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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See ETNK2 in Genome Data Viewer
Location:
1q32.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (204131062..204152044, complement)
105.20201022 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 Sharpr-MPRA regulatory region 2526 Neighboring gene SRY-box transcription factor 13 Neighboring gene HNF4 motif-containing MPRA enhancer 209 Neighboring gene estrogen receptor responsive lncRNA 1 Neighboring gene REN promoter and enhancer region Neighboring gene renin 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. Overexpression of a mammalian ethanolamine-specific kinase accelerates the CDP-ethanolamine pathway. Lykidis A, et al. J Biol Chem, 2001 Jan 19. PMID 11044454
  2. 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
  3. 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
  4. Eki2 is upregulated specifically in the testis during mouse sex determination. Hurley TM, et al. Gene Expr Patterns, 2004 Mar. PMID 15161093
  5. Male-female differences in the genetic regulation of t-PA and PAI-1 levels in a Ghanaian population. Schoenhard JA, et al. Hum Genet, 2008 Dec. PMID 18953568, Free PMC Article

See all (14) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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

Associated conditions

Description Tests
Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study.
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available

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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylethanolamine biosynthetic process TAS
Traceable Author Statement
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
  
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_011508016.1
XP_011508017.1
XP_016857121.1
XP_024303895.1

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
    UniProtKB/Swiss-Prot
    Q9NVF9
    UniProtKB/TrEMBL
    A0A024R976
    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/Swiss-Prot
    Q9NVF9
    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
    Q9NVF9
    UniProtKB/TrEMBL
    A0A024R9A8
    Related
    ENSP00000356170.4, ENST00000367202.9
    Conserved Domains (1) summary
    cd05157
    Location:83 → 375
    ETNK_euk; Euykaryotic Ethanolamine kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011509715.2 → XP_011508017.1  ethanolamine kinase 2 isoform X2

    See identical proteins and their annotated locations for XP_011508017.1

    Conserved Domains (1) summary
    cl21453
    Location:1 → 160
    PKc_like; Protein Kinases, catalytic domain

  2. XM_024448127.1 → XP_024303895.1  ethanolamine kinase 2 isoform X1

    Conserved Domains (1) summary
    cd05157
    Location:3 → 234
    ETNK_euk; Euykaryotic Ethanolamine kinase

  3. XM_017001632.1 → XP_016857121.1  ethanolamine kinase 2 isoform X2

    Conserved Domains (1) summary
    cl21453
    Location:1 → 160
    PKc_like; Protein Kinases, catalytic domain

  4. XM_011509714.2 → XP_011508016.1  ethanolamine kinase 2 isoform X2

    See identical proteins and their annotated locations for XP_011508016.1

    Conserved Domains (1) summary
    cl21453
    Location:1 → 160
    PKc_like; Protein Kinases, catalytic domain
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NVF9.3 GenPept UniProtKB/Swiss-Prot:Q9NVF9

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