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UBE2Q2 ubiquitin conjugating enzyme E2 Q2 [ Homo sapiens (human) ]

Gene ID: 92912, updated on 5-Mar-2024

Summary

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Official Symbol
UBE2Q2provided by HGNC
Official Full Name
ubiquitin conjugating enzyme E2 Q2provided by HGNC
Primary source
HGNC:HGNC:19248
See related
Ensembl:ENSG00000140367 MIM:612501; AllianceGenome:HGNC:19248
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
Summary
Enables ubiquitin-protein transferase activity. Involved in protein K48-linked ubiquitination. Predicted to be located in cytosol. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 12.2), prostate (RPKM 10.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
15q24.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (75843447..75901078)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (73714215..73771828)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (76135788..76193419)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene golgin A6 family member E, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76084438-76084938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76084939-76085439 Neighboring gene RNA, 7SL, cytoplasmic 319, pseudogene Neighboring gene dynamin 1 pseudogene 49 Neighboring gene Sharpr-MPRA regulatory region 8353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6683 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:76135870-76136767 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:76163679-76164628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:76195387-76196046 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:76196047-76196704 Neighboring gene RNA, 7SL, cytoplasmic 510, pseudogene Neighboring gene F-box protein 22 Neighboring gene neuregulin 4 Neighboring gene uncharacterized LOC124903616

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. Expression of UBE2Q2, a putative member of the ubiquitin-conjugating enzyme family in pediatric acute lymphoblastic leukemia. Seghatoleslam A, et al. Arch Iran Med, 2012 Jun. PMID 22642244
  2. Overexpression of the novel human gene, UBE2Q2, in breast cancer. Nikseresht M, et al. Cancer Genet Cytogenet, 2010 Mar. PMID 20193842
  3. Ubiquitin-conjugating enzyme UBE2Q2 suppresses cell proliferation and is down-regulated in recurrent head and neck cancer. Maeda H, et al. Mol Cancer Res, 2009 Sep. PMID 19723876
  4. Inactivation of the ubiquitin conjugating enzyme UBE2Q2 causes a prophase arrest and enhanced apoptosis in response to microtubule inhibiting agents. Banerjee S, et al. Oncogene, 2007 Oct 4. PMID 17471241
  5. Promoter Methylation Status of Two Novel Human Genes, UBE2Q1 and UBE2Q2, in Colorectal Cancer: a New Finding in Iranian Patients. Mokarram P, et al. Asian Pac J Cancer Prev, 2015. PMID 26745068

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. UBE2Q1 hypomethylation is associated with Colorectal Cancer.
    Title: Promoter Methylation Status of Two Novel Human Genes, UBE2Q1 and UBE2Q2, in Colorectal Cancer: a New Finding in Iranian Patients.
  2. The newly characterized human gene, UBE2Q2, may have implications for the pathogenesis of acute lymphoblastic leukemia.
    Title: Expression of UBE2Q2, a putative member of the ubiquitin-conjugating enzyme family in pediatric acute lymphoblastic leukemia.
  3. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: New loci associated with kidney function and chronic kidney disease.
  4. In the 21 breast cancer cases investigated, a high increase in UBE2Q2 expression was found in 8 breast cancers (38.1%), a moderately increased UBE2Q2 expression was observed in 7 cases (33.3%), and no sig. changes were detected in 6 cases (28.6%).
    Title: Overexpression of the novel human gene, UBE2Q2, in breast cancer.
  5. Found high expression levels of UBE2Q2 in human head and neck carcinoma cell lines and cancer tissues; found the level of UBE2Q2 is decreased in cell lines and cancer tissues that have resistance to CDDP or docetaxel.
    Title: Ubiquitin-conjugating enzyme UBE2Q2 suppresses cell proliferation and is down-regulated in recurrent head and neck cancer.
  6. Inhibition of the UBE2Q2 protein causes cells to undergo a prolonged prophase arrest suggesting that UBE2Q2 normally functions to antagonize an early mitotic checkpoint.
    Title: Inactivation of the ubiquitin conjugating enzyme UBE2Q2 causes a prophase arrest and enhanced apoptosis in response to microtubule inhibiting agents.
  7. the novel LOC92912 gene is characterized. It is over-expressed in hypopharyngeal tumours. Its functions may be linked with the cytoskeleton; it may represent a new target for cancer therapeutics.
    Title: Analysis of a novel human gene, LOC92912, over-expressed in hypopharyngeal tumours.
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
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp762C143

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin conjugating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein K48-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ubiquitin-conjugating enzyme E2 Q2
Names
E2 ubiquitin-conjugating enzyme Q2
ubiquitin carrier protein Q2
ubiquitin conjugating enzyme E2Q family member 2
ubiquitin-protein ligase Q2
NP_001138807.1
NP_001271311.1
NP_775740.1
XP_005254844.1
XP_005254845.1
XP_006720833.1
XP_011520530.1
XP_016878215.1
XP_016878216.1
XP_016878217.1
XP_047289302.1
XP_047289303.1
XP_047289305.1
XP_047289306.1
XP_047289307.1
XP_054235188.1
XP_054235189.1
XP_054235190.1
XP_054235191.1
XP_054235192.1
XP_054235193.1
XP_054235194.1
XP_054235195.1
XP_054235196.1
XP_054235197.1
XP_054235198.1
XP_054235199.1

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_001145335.1 → NP_001138807.1  ubiquitin-conjugating enzyme E2 Q2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AA476260, AC027104, AK296234, BC017708
    Consensus CDS
    CCDS45309.1
    UniProtKB/Swiss-Prot
    Q8WVN8
    Related
    ENSP00000456229.1, ENST00000561851.5
    Conserved Domains (1) summary
    cd00195
    Location:190 → 346
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

  2. NM_001284382.2 → NP_001271311.1  ubiquitin-conjugating enzyme E2 Q2 isoform 3

    See identical proteins and their annotated locations for NP_001271311.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC019294, AC027104
    Consensus CDS
    CCDS66839.1
    UniProtKB/Swiss-Prot
    Q8WVN8
    Related
    ENSP00000456324.1, ENST00000569423.5
    Conserved Domains (2) summary
    cd00195
    Location:171 → 327
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
    cl02687
    Location:9 → 94
    RWD; RWD domain

  3. NM_173469.4 → NP_775740.1  ubiquitin-conjugating enzyme E2 Q2 isoform 1

    See identical proteins and their annotated locations for NP_775740.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC019294, AC027104
    Consensus CDS
    CCDS10286.1
    UniProtKB/Swiss-Prot
    B7Z3Q2, H3BRG2, Q8N4G6, Q8WVN8, Q96J08
    Related
    ENSP00000267938.4, ENST00000267938.9
    Conserved Domains (2) summary
    cd00195
    Location:206 → 362
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
    cl02687
    Location:9 → 94
    RWD; RWD domain

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    75843447..75901078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254787.3 → XP_005254844.1  ubiquitin-conjugating enzyme E2 Q2 isoform X2

    Conserved Domains (2) summary
    cl00154
    Location:206 → 314
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
    cl02687
    Location:9 → 94
    RWD; RWD domain

  2. XM_005254788.3 → XP_005254845.1  ubiquitin-conjugating enzyme E2 Q2 isoform X3

    Conserved Domains (2) summary
    cl00154
    Location:194 → 283
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
    cl02687
    Location:9 → 94
    RWD; RWD domain

  3. XM_006720770.3 → XP_006720833.1  ubiquitin-conjugating enzyme E2 Q2 isoform X8

    Conserved Domains (1) summary
    cl02687
    Location:9 → 94
    RWD; RWD domain

  4. XM_017022727.3 → XP_016878216.1  ubiquitin-conjugating enzyme E2 Q2 isoform X5

  5. XM_017022728.3 → XP_016878217.1  ubiquitin-conjugating enzyme E2 Q2 isoform X7

  6. XM_047433350.1 → XP_047289306.1  ubiquitin-conjugating enzyme E2 Q2 isoform X10

  7. XM_047433349.1 → XP_047289305.1  ubiquitin-conjugating enzyme E2 Q2 isoform X9

  8. XM_047433351.1 → XP_047289307.1  ubiquitin-conjugating enzyme E2 Q2 isoform X12

  9. XM_011522228.3 → XP_011520530.1  ubiquitin-conjugating enzyme E2 Q2 isoform X11

    Conserved Domains (1) summary
    cl02687
    Location:9 → 94
    RWD; RWD domain

  10. XM_017022726.2 → XP_016878215.1  ubiquitin-conjugating enzyme E2 Q2 isoform X4

  11. XM_047433347.1 → XP_047289303.1  ubiquitin-conjugating enzyme E2 Q2 isoform X6

  12. XM_047433346.1 → XP_047289302.1  ubiquitin-conjugating enzyme E2 Q2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    73714215..73771828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379214.1 → XP_054235189.1  ubiquitin-conjugating enzyme E2 Q2 isoform X2

  2. XM_054379215.1 → XP_054235190.1  ubiquitin-conjugating enzyme E2 Q2 isoform X3

  3. XM_054379220.1 → XP_054235195.1  ubiquitin-conjugating enzyme E2 Q2 isoform X8

  4. XM_054379217.1 → XP_054235192.1  ubiquitin-conjugating enzyme E2 Q2 isoform X5

  5. XM_054379219.1 → XP_054235194.1  ubiquitin-conjugating enzyme E2 Q2 isoform X7

  6. XM_054379222.1 → XP_054235197.1  ubiquitin-conjugating enzyme E2 Q2 isoform X10

  7. XM_054379221.1 → XP_054235196.1  ubiquitin-conjugating enzyme E2 Q2 isoform X9

  8. XM_054379224.1 → XP_054235199.1  ubiquitin-conjugating enzyme E2 Q2 isoform X12

  9. XM_054379223.1 → XP_054235198.1  ubiquitin-conjugating enzyme E2 Q2 isoform X11

  10. XM_054379216.1 → XP_054235191.1  ubiquitin-conjugating enzyme E2 Q2 isoform X4

  11. XM_054379218.1 → XP_054235193.1  ubiquitin-conjugating enzyme E2 Q2 isoform X6

  12. XM_054379213.1 → XP_054235188.1  ubiquitin-conjugating enzyme E2 Q2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVN8.1 GenPept UniProtKB/Swiss-Prot:Q8WVN8

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