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    EOLA2 endothelium and lymphocyte associated ASCH domain 2 [ Homo sapiens (human) ]

    Gene ID: 541578, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EOLA2provided by HGNC
    Official Full Name
    endothelium and lymphocyte associated ASCH domain 2provided by HGNC
    Primary source
    HGNC:HGNC:17402
    See related
    Ensembl:ENSG00000197021 AllianceGenome:HGNC:17402
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CXorf40B
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 9.8), placenta (RPKM 4.0) and 25 other tissues See more
    Orthologs
    all
    NEW
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    Try the new Transcript table

    Genomic context

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    See EOLA2 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (149929532..149938491, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (148191783..148206745, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149100415..149106709, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30020 Neighboring gene long intergenic non-protein coding RNA 850 Neighboring gene MAGEA8 antisense RNA 1 Neighboring gene MAGE family member A8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21049 Neighboring gene EOLA2 divergent transcript Neighboring gene heat shock transcription factor family, X-linked member 4 Neighboring gene nucleolar protein 11 pseudogene

    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 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. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Timms KM, et al. Genome Res, 1995 Aug. PMID 8717057
    2. Molecular and phenotypic variation in patients with severe Hunter syndrome. Timms KM, et al. Hum Mol Genet, 1997 Mar. PMID 9147653
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    4. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674
    5. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16523

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    protein EOLA2
    Names
    protein CXorf40B

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001013845.2 → NP_001013867.1  protein EOLA2

      See identical proteins and their annotated locations for NP_001013867.1

      Status: VALIDATED

      Source sequence(s)
      BC009523, BM847839, U66042
      Consensus CDS
      CCDS35426.1
      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000359434.3, ENST00000370406.8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      149929532..149938491 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452391.2 → XP_024308159.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62, S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    2. XM_047442179.1 → XP_047298135.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    3. XM_011531181.4 → XP_011529483.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62, S4R3G8
      Related
      ENSP00000417546.1, ENST00000462691.5
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    4. XM_017029593.3 → XP_016885082.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62, S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    5. XM_017029592.3 → XP_016885081.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62, S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    6. XM_047442178.1 → XP_047298134.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    7. XM_017029591.3 → XP_016885080.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62, S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    8. XM_047442177.1 → XP_047298133.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    9. XM_005274702.4 → XP_005274759.1  protein EOLA2 isoform X1

      See identical proteins and their annotated locations for XP_005274759.1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000347339.2, ENST00000355203.6
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    10. XM_006724826.4 → XP_006724889.1  protein EOLA2 isoform X1

      See identical proteins and their annotated locations for XP_006724889.1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    11. XM_005274700.3 → XP_005274757.1  protein EOLA2 isoform X1

      See identical proteins and their annotated locations for XP_005274757.1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000474324.1, ENST00000370409.7
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    12. XM_005274698.3 → XP_005274755.1  protein EOLA2 isoform X1

      See identical proteins and their annotated locations for XP_005274755.1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Related
      ENSP00000359432.1, ENST00000370404.5
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    13. XM_005274699.3 → XP_005274756.1  protein EOLA2 isoform X1

      See identical proteins and their annotated locations for XP_005274756.1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    14. XM_047442174.1 → XP_047298130.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    15. XM_017029585.3 → XP_016885074.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    16. XM_005274701.4 → XP_005274758.1  protein EOLA2 isoform X1

      See identical proteins and their annotated locations for XP_005274758.1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    17. XM_017029588.3 → XP_016885077.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    18. XM_011531180.3 → XP_011529482.1  protein EOLA2 isoform X1

      See identical proteins and their annotated locations for XP_011529482.1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    19. XM_017029589.2 → XP_016885078.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9
      UniProtKB/TrEMBL
      S4R3G8
      Conserved Domains (1) summary
      smart01022
      Location:6 → 108
      ASCH; The ASCH domain adopts a beta-barrel fold similar to that of the PUA domain

    20. XM_047442175.1 → XP_047298131.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    21. XM_047442176.1 → XP_047298132.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      148191783..148206745 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327241.1 → XP_054183216.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    2. XM_054327238.1 → XP_054183213.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    3. XM_054327240.1 → XP_054183215.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    4. XM_054327243.1 → XP_054183218.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    5. XM_054327244.1 → XP_054183219.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    6. XM_054327237.1 → XP_054183212.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    7. XM_054327242.1 → XP_054183217.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    8. XM_054327239.1 → XP_054183214.1  protein EOLA2 isoform X2

      UniProtKB/TrEMBL
      Q5HY62

    9. XM_054327233.1 → XP_054183208.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    10. XM_054327222.1 → XP_054183197.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    11. XM_054327227.1 → XP_054183202.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    12. XM_054327225.1 → XP_054183200.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    13. XM_054327228.1 → XP_054183203.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    14. XM_054327234.1 → XP_054183209.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    15. XM_054327224.1 → XP_054183199.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    16. XM_054327230.1 → XP_054183205.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    17. XM_054327229.1 → XP_054183204.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    18. XM_054327231.1 → XP_054183206.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    19. XM_054327226.1 → XP_054183201.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    20. XM_054327223.1 → XP_054183198.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    21. XM_054327236.1 → XP_054183211.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    22. XM_054327235.1 → XP_054183210.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    23. XM_054327232.1 → XP_054183207.1  protein EOLA2 isoform X1

      UniProtKB/Swiss-Prot
      Q96DE9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039761.2: Suppressed sequence

      Description
      NM_001039761.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DE9.1 GenPept UniProtKB/Swiss-Prot:Q96DE9

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