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TMUB2 transmembrane and ubiquitin like domain containing 2 [ Homo sapiens (human) ]

Gene ID: 79089, updated on 17-May-2023

Summary

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Official Symbol
TMUB2provided by HGNC
Official Full Name
transmembrane and ubiquitin like domain containing 2provided by HGNC
Primary source
HGNC:HGNC:28459
See related
Ensembl:ENSG00000168591 AllianceGenome:HGNC:28459
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
FP2653
Summary
Predicted to be involved in ubiquitin-dependent ERAD pathway. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 16.4), spleen (RPKM 14.8) and 25 other tissues See more
Orthologs
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Genomic context

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See TMUB2 in Genome Data Viewer
Location:
17q21.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44186972..44191929)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45040074..45045031)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42264340..42269297)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and SOCS box containing 16 Neighboring gene ASB16 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:42263664-42264198 Neighboring gene ataxin 7 like 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42274223-42275146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42275147-42276069

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. Quality Control of ER Membrane Proteins by the RNF185/Membralin Ubiquitin Ligase Complex. van de Weijer ML, et al. Mol Cell, 2020 Sep 3. PMID 32738194, Free PMC Article
  2. Large-scale cDNA transfection screening for genes related to cancer development and progression. Wan D, et al. Proc Natl Acad Sci U S A, 2004 Nov 2. PMID 15498874, Free PMC Article
  3. EDEM1 Drives Misfolded Protein Degradation via ERAD and Exploits ER-Phagy as Back-Up Mechanism When ERAD Is Impaired. Chiritoiu M, et al. Int J Mol Sci, 2020 May 14. PMID 32423001, Free PMC Article
  4. Interaction mapping of endoplasmic reticulum ubiquitin ligases identifies modulators of innate immune signalling. Fenech EJ, et al. Elife, 2020 Jul 2. PMID 32614325, Free PMC Article
  5. Global proteomics of Ubqln2-based murine models of ALS. Whiteley AM, et al. J Biol Chem, 2021 Jan-Jun. PMID 33277362, Free PMC Article

See all (25) 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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane and ubiquitin-like domain-containing protein 2

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_001076674.3 → NP_001070142.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform b

    See identical proteins and their annotated locations for NP_001070142.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes an alternate exon with an upstream start codon, compared to variant 1. The resulting protein (isoform b) has a longer N-terminus, compared to isoform a.
    Source sequence(s)
    AC004596, AL533563, AL538440, BI906577, BM999307
    Consensus CDS
    CCDS54134.1
    UniProtKB/Swiss-Prot
    Q71RG4, Q9HAG3
    Related
    ENSP00000444565.1, ENST00000538716.7
    Conserved Domains (1) summary
    pfam00240
    Location:176 → 245
    ubiquitin; Ubiquitin family

  2. NM_001330235.2 → NP_001317164.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform c

    Status: VALIDATED

    Source sequence(s)
    AK294198, BC004306, BM999307
    Consensus CDS
    CCDS82137.1
    UniProtKB/Swiss-Prot
    Q71RG4
    UniProtKB/TrEMBL
    B4DFQ1, E7ESS3
    Related
    ENSP00000413127.2, ENST00000446571.7
    Conserved Domains (1) summary
    pfam00240
    Location:119 → 188
    ubiquitin; Ubiquitin family

  3. NM_001353173.2 → NP_001340102.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS11479.1
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  4. NM_001353174.2 → NP_001340103.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS82137.1
    UniProtKB/TrEMBL
    E7ESS3
    Conserved Domains (1) summary
    pfam00240
    Location:119 → 188
    ubiquitin; Ubiquitin family

  5. NM_001353175.2 → NP_001340104.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS11479.1
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  6. NM_001353176.2 → NP_001340105.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS11479.1
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  7. NM_001353177.2 → NP_001340106.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS54134.1
    UniProtKB/Swiss-Prot
    Q9HAG3
    Related
    ENSP00000466971.1, ENST00000587989.1
    Conserved Domains (1) summary
    pfam00240
    Location:176 → 245
    ubiquitin; Ubiquitin family

  8. NM_001353178.2 → NP_001340107.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS11479.1
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  9. NM_001353180.2 → NP_001340109.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform f

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Conserved Domains (1) summary
    cd17132
    Location:164 → 234
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  10. NM_001353181.2 → NP_001340110.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS54134.1
    UniProtKB/Swiss-Prot
    Q9HAG3
    Conserved Domains (1) summary
    pfam00240
    Location:176 → 245
    ubiquitin; Ubiquitin family

  11. NM_001353182.2 → NP_001340111.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS11479.1
    Related
    ENSP00000467364.1, ENST00000589785.1
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  12. NM_001353183.2 → NP_001340112.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS11479.1
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  13. NM_001353184.2 → NP_001340113.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS54134.1
    UniProtKB/Swiss-Prot
    Q9HAG3
    Conserved Domains (1) summary
    pfam00240
    Location:176 → 245
    ubiquitin; Ubiquitin family

  14. NM_001353185.2 → NP_001340114.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Conserved Domains (1) summary
    pfam00240
    Location:130 → 199
    ubiquitin; Ubiquitin family

  15. NM_001353186.2 → NP_001340115.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC004596

  16. NM_001353187.2 → NP_001340116.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Conserved Domains (1) summary
    pfam00240
    Location:130 → 199
    ubiquitin; Ubiquitin family

  17. NM_001353188.2 → NP_001340117.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS11479.1
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  18. NM_001353189.2 → NP_001340118.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform f

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Conserved Domains (1) summary
    cd17132
    Location:164 → 234
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  19. NM_001353190.2 → NP_001340119.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS11479.1
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  20. NM_001353191.2 → NP_001340120.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Consensus CDS
    CCDS11479.1
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  21. NM_024107.4 → NP_077012.2  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    See identical proteins and their annotated locations for NP_077012.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC004596, BC063489, BI906577, BM999307
    Consensus CDS
    CCDS11479.1
    UniProtKB/Swiss-Prot
    Q71RG4
    Related
    ENSP00000350672.3, ENST00000357984.7
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

  22. NM_177441.4 → NP_803190.2  transmembrane and ubiquitin-like domain-containing protein 2 isoform a

    See identical proteins and their annotated locations for NP_803190.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC004596, AL833899, BM999307, HY071246
    Consensus CDS
    CCDS11479.1
    UniProtKB/Swiss-Prot
    Q71RG4
    Related
    ENSP00000313214.5, ENST00000319511.6
    Conserved Domains (1) summary
    cd17132
    Location:153 → 223
    Ubl_TMUB2; ubiquitin-like (Ubl) domain found in transmembrane and ubiquitin-like domain-containing protein 2 (TMUB2)

RNA

  1. NR_148386.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004596, BC004306, BM999307
    Related
    ENST00000590235.5

  2. NR_148387.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004596

  3. NR_148388.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004596

  4. NR_148389.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004596

  5. NR_148390.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC004596
    Related
    ENST00000592825.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    44186972..44191929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450929.2 → XP_024306697.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X2

    Conserved Domains (1) summary
    pfam00240
    Location:139 → 208
    ubiquitin; Ubiquitin family

  2. XM_047436704.1 → XP_047292660.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X3

  3. XM_024450930.2 → XP_024306698.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X5

    Conserved Domains (1) summary
    pfam00240
    Location:130 → 199
    ubiquitin; Ubiquitin family

  4. XM_047436712.1 → XP_047292668.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X8

  5. XM_047436706.1 → XP_047292662.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X4

  6. XM_047436707.1 → XP_047292663.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X4

  7. XM_047436710.1 → XP_047292666.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    E7ESS3

  8. XM_047436702.1 → XP_047292658.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X3

  9. XM_047436703.1 → XP_047292659.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X3

  10. XM_047436711.1 → XP_047292667.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X8

  11. XM_011525201.3 → XP_011523503.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011523503.1

    UniProtKB/Swiss-Prot
    Q71RG4, Q9HAG3
    Conserved Domains (1) summary
    pfam00240
    Location:176 → 245
    ubiquitin; Ubiquitin family

  12. XM_047436708.1 → XP_047292664.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X2

  13. XM_047436705.1 → XP_047292661.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X3

  14. XM_047436699.1 → XP_047292655.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9HAG3

  15. XM_047436700.1 → XP_047292656.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9HAG3

  16. XM_047436701.1 → XP_047292657.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X2

  17. XM_011525200.4 → XP_011523502.2  transmembrane and ubiquitin-like domain-containing protein 2 isoform X2

  18. XM_011525211.4 → XP_011523513.2  transmembrane and ubiquitin-like domain-containing protein 2 isoform X7

  19. XM_047436709.1 → XP_047292665.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    E7ESS3

  20. XM_024450933.2 → XP_024306701.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    E7ESS3
    Conserved Domains (1) summary
    pfam00240
    Location:119 → 188
    ubiquitin; Ubiquitin family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    45040074..45045031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317140.1 → XP_054173115.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X2

  2. XM_054317136.1 → XP_054173111.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X3

  3. XM_054317142.1 → XP_054173117.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X5

  4. XM_054317149.1 → XP_054173124.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X8

  5. XM_054317147.1 → XP_054173122.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X7

  6. XM_054317138.1 → XP_054173113.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X4

  7. XM_054317139.1 → XP_054173114.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X4

  8. XM_054317143.1 → XP_054173118.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    E7ESS3

  9. XM_054317134.1 → XP_054173109.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X3

  10. XM_054317135.1 → XP_054173110.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X3

  11. XM_054317148.1 → XP_054173123.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X8

  12. XM_054317133.1 → XP_054173108.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9HAG3

  13. XM_054317141.1 → XP_054173116.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X2

  14. XM_054317137.1 → XP_054173112.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X3

  15. XM_054317129.1 → XP_054173104.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9HAG3

  16. XM_054317130.1 → XP_054173105.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9HAG3

  17. XM_054317131.1 → XP_054173106.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X2

  18. XM_054317132.1 → XP_054173107.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X2

  19. XM_054317146.1 → XP_054173121.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X7

  20. XM_054317144.1 → XP_054173119.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    E7ESS3

  21. XM_054317145.1 → XP_054173120.1  transmembrane and ubiquitin-like domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    E7ESS3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q71RG4.2 GenPept UniProtKB/Swiss-Prot:Q71RG4

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