UBE2V2 ubiquitin conjugating enzyme E2 V2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE2V2provided by HGNC
Official Full Name: ubiquitin conjugating enzyme E2 V2provided by HGNC
Primary source: HGNC:HGNC:12495
See related: Ensembl:ENSG00000169139 MIM:603001; AllianceGenome:HGNC:12495
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: MMS2; UEV2; EDPF1; UEV-2; DDVIT1; EDAF-1; EDPF-1; DDVit-1
Summary: Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 22.2), adrenal (RPKM 12.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q11.21

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (47997437..48064708)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (48374223..48441494)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (48920991..48977268)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UBE2V2 promotes metastasis by regulating EMT and predicts a poor prognosis in lung adenocarcinoma.
Title: UBE2V2 promotes metastasis by regulating EMT and predicts a poor prognosis in lung adenocarcinoma.
UBE2V2 Positively Correlates With PD-L1 Expression and Confers Poor Patient Survival in Lung Adenocarcinoma.
Title: UBE2V2 Positively Correlates With PD-L1 Expression and Confers Poor Patient Survival in Lung Adenocarcinoma.
Uev1A amino terminus stimulates poly-ubiquitin chain assembly and is required for NF-kappaB activation.
Title: Uev1A amino terminus stimulates poly-ubiquitin chain assembly and is required for NF-κB activation.
Ubc13-Mms2 cooperates with a family of RING E3 proteins in budding yeast membrane protein sorting.
Title: Ubc13-Mms2 cooperates with a family of RING E3 proteins in budding yeast membrane protein sorting.
Data suggest that ubiquitin-conjugating enzyme E2 variant 2 (Ube2V2) and ring finger protein 4 (RNF4) together induce an active conformation of the ubiquitin-conjugating enzyme Ubc13-ubiquitin (Ubc13~Ub) thioester.
Title: Structural basis for the RING-catalyzed synthesis of K63-linked ubiquitin chains.
Functional analysis of selected regulated proteins revealed that knockdown of HNRPD, PHB2 and UB2V2 can increase HCMV replication, while knockdown of A4 and KSRP resulted in decreased HCMV replication.
Title: Subcellular quantitative proteomic analysis reveals host proteins involved in human cytomegalovirus infection.
suppression of hMMS2 reverses L-OHP tolerance in differentiated human colorectal carcinoma cells by promoting apoptosis
Title: [Roles of hMMS2 gene in reversing the oxaliplatin tolerance of human colon carcinoma cells].
Data show RING finger (RNF) E3 ubiquitin ligase RNF8 dimerizes and binds to E2 ubiquitin-conjugating complex Ubc13/Mms2 with formation of Lys-63 ubiquitin chains, whereas the RNF168 RING domain is a monomer and does not catalyze Lys-6 ubiquitylation.
Title: Molecular insights into the function of RING finger (RNF)-containing proteins hRNF8 and hRNF168 in Ubc13/Mms2-dependent ubiquitylation.
the crystal structure of human OTUB1 in complex with human UBC13 and MMS2
Title: Molecular basis of Lys-63-linked polyubiquitination inhibition by the interaction between human deubiquitinating enzyme OTUB1 and ubiquitin-conjugating enzyme UBC13.
entire coding region and splice junctions of RNF8, UBC13 and MMS2 genes were screened for mutations in affected index cases from 123 Northern Finnish breast cancer families
Title: Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

SHGC-84240 (e-PCR)
- UniSTS:104715

RH48535 (e-PCR)
- UniSTS:51741

D11S2560 (e-PCR)
- UniSTS:37928

RH66144 (e-PCR)
- UniSTS:70700

D15S1477 (e-PCR)
- UniSTS:474482

SHGC-5776 (e-PCR)
- UniSTS:13285

SHGC-104623 (e-PCR)
- UniSTS:168952

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 DNA double-strand break processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in error-free postreplication DNA repair	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in postreplication repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K63-linked ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	TAS Traceable Author Statement more info	PubMed
involved_in protein ubiquitination	TAS Traceable Author Statement more info	PubMed
involved_in regulation of DNA repair	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of UBC13-MMS2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of UBC13-MMS2 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin conjugating enzyme complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ubiquitin-conjugating enzyme E2 variant 2

Names: 1 alpha,25-dihydroxyvitamin D3-inducible; DDVit 1; MMS2 homolog; enterocyte differentiation promoting factor; enterocyte differentiation-associated factor 1; enterocyte differentiation-associated factor EDAF-1; enterocyte differentiation-promoting factor 1; methyl methanesulfonate sensitive 2, S. cerevisiae, homolog of; vitamin D3-inducible protein

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)

NM_003350.3 → NP_003341.1 ubiquitin-conjugating enzyme E2 variant 2

See identical proteins and their annotated locations for NP_003341.1

Status: REVIEWED

Source sequence(s)

AC021236

Consensus CDS

CCDS43738.1

UniProtKB/Swiss-Prot

Q15819

UniProtKB/TrEMBL

A0M8W4

Related

ENSP00000428209.1, ENST00000523111.7

Conserved Domains (1) summary

smart00212
Location:14 → 145

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

47997437..48064708

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017013808.3 → XP_016869297.2 ubiquitin-conjugating enzyme E2 variant 2 isoform X2
XM_011517583.4 → XP_011515885.1 ubiquitin-conjugating enzyme E2 variant 2 isoform X1

Conserved Domains (1) summary

smart00212
Location:42 → 173

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

48374223..48441494

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361177.1 → XP_054217152.1 ubiquitin-conjugating enzyme E2 variant 2 isoform X2
XM_054361176.1 → XP_054217151.1 ubiquitin-conjugating enzyme E2 variant 2 isoform X1