UBE2G2 ubiquitin conjugating enzyme E2 G2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE2G2provided by HGNC
Official Full Name: ubiquitin conjugating enzyme E2 G2provided by HGNC
Primary source: HGNC:HGNC:12483
See related: Ensembl:ENSG00000184787 MIM:603124; AllianceGenome:HGNC:12483
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: UBC7
Summary: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in spleen (RPKM 19.6), appendix (RPKM 19.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (44768580..44801820, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (43128837..43162088, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (46188495..46221735, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A structurally conserved site in AUP1 binds the E2 enzyme UBE2G2 and is essential for ER-associated degradation.
Title: A structurally conserved site in AUP1 binds the E2 enzyme UBE2G2 and is essential for ER-associated degradation.
UBE2G2 was crucial for the degradation of various immunoreceptors. UBE2J2, on the other hand, counteracted US2-induced endoplasmic reticulum-associated protein degradation by downregulating TRC8 expression.
Title: Multiple E2 ubiquitin-conjugating enzymes regulate human cytomegalovirus US2-mediated immunoreceptor downregulation.
Further study discovered that the gp78 CUE domain works as a proofreading machine during the growth of K48-linked polyubiquitin chains to ensure the linkage specificity. Together, our studies uncover a novel mechanism underlying the linkage specificity determination of longer polyubiquitin chains.
Title: The linkage specificity determination of Ube2g2-gp78 mediated polyubiquitination.
These results reveal an unanticipated mode of Ube2g2 self-association that allows Ube2g2 to effectively engage two ubiquitins to specifically synthesize Lys48-linked ubiquitin chains.
Title: Dimeric Ube2g2 simultaneously engages donor and acceptor ubiquitins to form Lys48-linked ubiquitin chains.
The presence of the AUP1-Ube2g2 complex at LDs provides a direct molecular link between LDs and the cellular ubiquitination machinery.
Title: Ancient ubiquitous protein 1 (AUP1) localizes to lipid droplets and binds the E2 ubiquitin conjugase G2 (Ube2g2) via its G2 binding region.
Lys-48-linked polyubiquitin chains may be designed to bind certain proteins like Ube2g2 such that the terminal ubiquitin subunit carrying the reactive Lys-48 side chain can be positioned properly for chain elongation regardless of chain length.
Title: Mechanism of polyubiquitin chain recognition by the human ubiquitin conjugating enzyme Ube2g2.
Results report the solution structure and backbone dynamics of Ube2g2 solved by nuclear magnetic resonance spectroscopy.
Title: Solution structure and dynamics of human ubiquitin conjugating enzyme Ube2g2.
Structural comparison of human UBE2G2 with yeast Ubc7 indicated that the overall structures are similar except for the long loop region and the C-terminal helix.
Title: Structure of human ubiquitin-conjugating enzyme E2 G2 (UBE2G2/UBC7).
interrupting a specific E2-E3 interaction can selectively inhibit endoplasmic reticulum -associated degradation
Title: The activity of a human endoplasmic reticulum-associated degradation E3, gp78, requires its Cue domain, RING finger, and an E2-binding site.
Ubc7 mediates inositol 1,4,5-trisphosphate receptor ubiquitination and is a component of the endoplasmic reticulum-associated degradation pathway
Title: Inositol 1,4,5-trisphosphate receptor ubiquitination is mediated by mammalian Ubc7, a component of the endoplasmic reticulum-associated degradation pathway, and is inhibited by chelation of intracellular Zn2+.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-87696 (e-PCR)
- UniSTS:77617

SHGC-87701 (e-PCR)
- UniSTS:8536

SHGC-87700 (e-PCR)
- UniSTS:41315

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-106500 (e-PCR)
- UniSTS:169896

D21S1723E (e-PCR)
- UniSTS:150779

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin conjugating enzyme activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to interferon-beta	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of retrograde protein transport, ER to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	HDA more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ubiquitin-conjugating enzyme E2 G2

Names: E2 ubiquitin-conjugating enzyme G2; ubiquitin carrier protein G2; ubiquitin conjugating enzyme 7; ubiquitin conjugating enzyme G2; ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast); ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7); ubiquitin-protein ligase G2

NP_001189418.1

EC 2.3.2.23

NP_003334.2

EC 2.3.2.23

NP_872630.1

EC 2.3.2.23

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.

Genomic

NG_052982.1 RefSeqGene

Range

5017..38257

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001202489.2 → NP_001189418.1 ubiquitin-conjugating enzyme E2 G2 isoform 3

See identical proteins and their annotated locations for NP_001189418.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' region, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (3) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AL773604, BU741369, DA710059

UniProtKB/Swiss-Prot

P60604

Conserved Domains (1) summary

pfam00179
Location:1 → 89

UQ_con; Ubiquitin-conjugating enzyme
NM_003343.6 → NP_003334.2 ubiquitin-conjugating enzyme E2 G2 isoform 1

See identical proteins and their annotated locations for NP_003334.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK290629, AL773604, BC008351, BU741369

Consensus CDS

CCDS13714.1

UniProtKB/Swiss-Prot

A6NMQ7, A8K3L4, D3DSL7, P56554, P60604

Related

ENSP00000338348.3, ENST00000345496.7

Conserved Domains (1) summary

COG5078
Location:1 → 163

COG5078; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
NM_182688.3 → NP_872630.1 ubiquitin-conjugating enzyme E2 G2 isoform 2

See identical proteins and their annotated locations for NP_872630.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional exon in the 5' region, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AK290629, AL773604, BE292782, BU741369

Consensus CDS

CCDS33586.1

UniProtKB/Swiss-Prot

P60604

Related

ENSP00000331384.5, ENST00000330942.9

Conserved Domains (1) summary

pfam00179
Location:3 → 131

UQ_con; Ubiquitin-conjugating enzyme