Human Gene UBE2G2 (uc002zfy.3) Description and Page Index
  Description: Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBE2G2), transcript variant 1, mRNA.
RefSeq Summary (NM_003343): 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].
Transcript (Including UTRs)
   Position: hg19 chr21:46,188,495-46,221,751 Size: 33,257 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr21:46,191,292-46,221,663 Size: 30,372 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:46,188,495-46,221,751)mRNA (may differ from genome)Protein (165 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: UB2G2_HUMAN
DESCRIPTION: RecName: Full=Ubiquitin-conjugating enzyme E2 G2; EC=6.3.2.19; AltName: Full=Ubiquitin carrier protein G2; AltName: Full=Ubiquitin-protein ligase G2;
FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 48'-linked polyubiquitination. Involved in endoplasmic reticulum- associated degradation (ERAD).
CATALYTIC ACTIVITY: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine.
PATHWAY: Protein modification; protein ubiquitination.
SIMILARITY: Belongs to the ubiquitin-conjugating enzyme family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): UBE2G2
CDC HuGE Published Literature: UBE2G2
Positive Disease Associations: Hip , Waist Circumference
Related Studies:
  1. Hip
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
  2. Waist Circumference
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.97 RPKM in Spleen
Total median expression: 1362.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.2088-0.491 Picture PostScript Text
3' UTR -993.792797-0.355 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000608 - UBQ-conjugat_E2
IPR023313 - UBQ-conjugating_AS
IPR016135 - UBQ-conjugating_enzyme/RWD

Pfam Domains:
PF00179 - Ubiquitin-conjugating enzyme

SCOP Domains:
54495 - UBC-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2CYX
- X-ray MuPIT

2KLY
- NMR MuPIT

3H8K
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P60604
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016740 transferase activity
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0061630 ubiquitin protein ligase activity
GO:0061631 ubiquitin conjugating enzyme activity

Biological Process:
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0016567 protein ubiquitination
GO:0018279 protein N-linked glycosylation via asparagine
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process
GO:0035458 cellular response to interferon-beta
GO:0044257 cellular protein catabolic process
GO:0070936 protein K48-linked ubiquitination
GO:1904153 negative regulation of retrograde protein transport, ER to cytosol

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF032456 - Homo sapiens ubiquitin conjugating enzyme G2 (UBE2G2) mRNA, complete cds.
BC017241 - Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast), mRNA (cDNA clone IMAGE:4647334), partial cds.
AL834129 - Homo sapiens mRNA; cDNA DKFZp586L2318 (from clone DKFZp586L2318).
BC008351 - Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast), mRNA (cDNA clone MGC:15927 IMAGE:3536171), complete cds.
BC001738 - Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast), mRNA (cDNA clone MGC:1589 IMAGE:3536853), complete cds.
AK122700 - Homo sapiens cDNA FLJ16170 fis, clone BRHIP2003062, moderately similar to Ubiquitin-conjugating enzyme E2 G2 (EC 6.3.2.19).
JD079571 - Sequence 60595 from Patent EP1572962.
JD197091 - Sequence 178115 from Patent EP1572962.
JD136185 - Sequence 117209 from Patent EP1572962.
JD523319 - Sequence 504343 from Patent EP1572962.
JD101836 - Sequence 82860 from Patent EP1572962.
JD047505 - Sequence 28529 from Patent EP1572962.
JD246796 - Sequence 227820 from Patent EP1572962.
JD273249 - Sequence 254273 from Patent EP1572962.
JD231359 - Sequence 212383 from Patent EP1572962.
JD315667 - Sequence 296691 from Patent EP1572962.
JD450456 - Sequence 431480 from Patent EP1572962.
JD451108 - Sequence 432132 from Patent EP1572962.
JD108629 - Sequence 89653 from Patent EP1572962.
JD549953 - Sequence 530977 from Patent EP1572962.
JD402068 - Sequence 383092 from Patent EP1572962.
JD278562 - Sequence 259586 from Patent EP1572962.
JD426024 - Sequence 407048 from Patent EP1572962.
JD558103 - Sequence 539127 from Patent EP1572962.
JD121343 - Sequence 102367 from Patent EP1572962.
JD552967 - Sequence 533991 from Patent EP1572962.
JD553429 - Sequence 534453 from Patent EP1572962.
BC011569 - Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast), mRNA (cDNA clone MGC:20221 IMAGE:4548763), complete cds.
AK075143 - Homo sapiens cDNA FLJ90662 fis, clone PLACE1005005, highly similar to Homo sapiens ubiquitin conjugating enzyme G2 (UBE2G2) mRNA.
JD311237 - Sequence 292261 from Patent EP1572962.
JD170880 - Sequence 151904 from Patent EP1572962.
JD530582 - Sequence 511606 from Patent EP1572962.
JD446266 - Sequence 427290 from Patent EP1572962.
JD395409 - Sequence 376433 from Patent EP1572962.
JD125597 - Sequence 106621 from Patent EP1572962.
JD025138 - Sequence 6162 from Patent EP1572962.
JD159700 - Sequence 140724 from Patent EP1572962.
JD376347 - Sequence 357371 from Patent EP1572962.
JD486469 - Sequence 467493 from Patent EP1572962.
JD075003 - Sequence 56027 from Patent EP1572962.
JD075002 - Sequence 56026 from Patent EP1572962.
JD371721 - Sequence 352745 from Patent EP1572962.
JD257749 - Sequence 238773 from Patent EP1572962.
JD289405 - Sequence 270429 from Patent EP1572962.
JD500611 - Sequence 481635 from Patent EP1572962.
JD489608 - Sequence 470632 from Patent EP1572962.
JD279608 - Sequence 260632 from Patent EP1572962.
JD538384 - Sequence 519408 from Patent EP1572962.
JD384650 - Sequence 365674 from Patent EP1572962.
JD155368 - Sequence 136392 from Patent EP1572962.
JD297341 - Sequence 278365 from Patent EP1572962.
AK290629 - Homo sapiens cDNA FLJ76118 complete cds, highly similar to Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) (UBE2G2), transcript variant 1, mRNA.
JD180576 - Sequence 161600 from Patent EP1572962.
JD451912 - Sequence 432936 from Patent EP1572962.
JD393595 - Sequence 374619 from Patent EP1572962.
JD127156 - Sequence 108180 from Patent EP1572962.
JD136814 - Sequence 117838 from Patent EP1572962.
JD348141 - Sequence 329165 from Patent EP1572962.
JD510136 - Sequence 491160 from Patent EP1572962.
JD163001 - Sequence 144025 from Patent EP1572962.
JD299380 - Sequence 280404 from Patent EP1572962.
JD053418 - Sequence 34442 from Patent EP1572962.
JD187534 - Sequence 168558 from Patent EP1572962.
JD259645 - Sequence 240669 from Patent EP1572962.
JD170910 - Sequence 151934 from Patent EP1572962.
JF432837 - Synthetic construct Homo sapiens clone IMAGE:100074157 ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) (UBE2G2) gene, encodes complete protein.
KJ892345 - Synthetic construct Homo sapiens clone ccsbBroadEn_01739 UBE2G2 gene, encodes complete protein.
BT006914 - Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) mRNA, complete cds.
AB590900 - Synthetic construct DNA, clone: pFN21AE1128, Homo sapiens UBE2G2 gene for ubiquitin-conjugating enzyme E2G 2, without stop codon, in Flexi system.
BC054341 - Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast), mRNA (cDNA clone IMAGE:6504265), partial cds.
AL355686 - Homo sapiens EST from clone 37208, full insert.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis
hsa05012 - Parkinson's disease

BioCarta from NCI Cancer Genome Anatomy Project
h_parkinPathway - Role of Parkin in the Ubiquitin-Proteasomal Pathway

Reactome (by CSHL, EBI, and GO)

Protein P60604 (Reactome details) participates in the following event(s):

R-HSA-8852127 UBA6 conjugates ubiquitin to cytosolic E2 enzymes
R-HSA-8852129 UBA1 conjugates ubiquitin to cytosolic E2 enzymes
R-HSA-983152 Transfer of ubiquitin from E1 to E2
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-8866652 Synthesis of active ubiquitin: roles of E1 and E2 enzymes
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-8852135 Protein ubiquitination
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-597592 Post-translational protein modification
R-HSA-1280218 Adaptive Immune System
R-HSA-392499 Metabolism of proteins
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3L4, D3DSL7, NM_003343, NP_001189418, P56554, P60604, UB2G2_HUMAN
UCSC ID: uc002zfy.3
RefSeq Accession: NM_003343
Protein: P60604 (aka UB2G2_HUMAN or UBCJ_HUMAN)
CCDS: CCDS13714.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003343.5
exon count: 6CDS single in 3' UTR: no RNA size: 3400
ORF size: 498CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1196.00frame shift in genome: no % Coverage: 99.50
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.