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

Gene ID: 541578, updated on 27-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
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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
  • 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)

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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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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