DRG2 Gene (Protein Coding)

Developmentally Regulated GTP Binding Protein 2

GC17P018088
GIFtS:
39
This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012] See more...

Aliases for DRG2 Gene

Aliases for DRG2 Gene

  • Developmentally Regulated GTP Binding Protein 2 2 3 5
  • Developmentally-Regulated GTP-Binding Protein 2 3 4
  • Translation Factor GTPase DRG2 3 4
  • TRAFAC GTPase DRG2 3 4
  • Developmentally Regulated GTP-Binding Protein 2 2
  • EC 3.6.5.- 4
  • DRG-2 4
  • DRG2 5

External Ids for DRG2 Gene

Previous GeneCards Identifiers for DRG2 Gene

  • GC17P018236
  • GC17P019363
  • GC17P017934
  • GC17P018191
  • GC17P017932
  • GC17P017992
  • GC17P017744

Summaries for DRG2 Gene

Entrez Gene Summary for DRG2 Gene

  • This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012]

GeneCards Summary for DRG2 Gene

DRG2 (Developmentally Regulated GTP Binding Protein 2) is a Protein Coding gene. Diseases associated with DRG2 include Volkmann Contracture and Smith-Magenis Syndrome. Gene Ontology (GO) annotations related to this gene include GTP binding and ferrous iron transmembrane transporter activity. An important paralog of this gene is DRG1.

UniProtKB/Swiss-Prot Summary for DRG2 Gene

  • Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP. When hydroxylated at C-3 of 'Lys-21' by JMJD7, may bind to RNA and play a role in translation.

Gene Wiki entry for DRG2 Gene

Additional gene information for DRG2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DRG2 Gene

Genomics for DRG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DRG2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DRG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DRG2

Top Transcription factor binding sites by QIAGEN in the DRG2 gene promoter:
  • CBF(2)
  • HNF-1
  • HNF-3beta
  • NF-Y
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for DRG2 Gene

Latest Assembly
chr17:18,087,885-18,107,970
(GRCh38/hg38)
Size:
20,086 bases
Orientation:
Plus strand

Previous Assembly
chr17:17,991,262-18,011,283
(GRCh37/hg19 by Entrez Gene)
Size:
20,022 bases
Orientation:
Plus strand

chr17:17,991,200-18,011,285
(GRCh37/hg19 by Ensembl)
Size:
20,086 bases
Orientation:
Plus strand

Genomic View for DRG2 Gene

Genes around DRG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DRG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DRG2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DRG2 Gene

Proteins for DRG2 Gene

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  • Protein details for DRG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55039-DRG2_HUMAN
    Recommended name:
    Developmentally-regulated GTP-binding protein 2
    Protein Accession:
    P55039
    Secondary Accessions:
    • B2R8G5
    • Q53Y50
    • Q9BWB2

    Protein attributes for DRG2 Gene

    Size:
    364 amino acids
    Molecular mass:
    40746 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with RWDD1; this interaction confers protection to polyubiquitination and proteolytic degradation (By similarity). Interacts with JMJD7; this interaction is direct (PubMed:29915238).

neXtProt entry for DRG2 Gene

Protein Expression for DRG2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DRG2 Gene

  • Hydroxylated (with S stereochemistry) at C-3 of Lys-21 by JMJD7; this modification hinders trypsin-catalyzed proteolysis in vitro.
  • Polyubiquitinated.
  • Ubiquitination at Lys127, Lys161, and Lys341
  • Modification sites at PhosphoSitePlus

Other Protein References for DRG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DRG2 Gene

Domains & Families for DRG2 Gene

Gene Families for DRG2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DRG2 Gene

InterPro:
Blocks:
  • GTP-binding protein, HSR1-related
  • GTP1/OBG GTP-binding protein family signature
ProtoNet:

Suggested Antigen Peptide Sequences for DRG2 Gene

GenScript: Design optimal peptide antigens:
  • Developmentally-regulated GTP-binding protein 2 (DRG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55039

UniProtKB/Swiss-Prot:

DRG2_HUMAN :
  • Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family.
Family:
  • Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family.
genes like me logo Genes that share domains with DRG2: view

Function for DRG2 Gene

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  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for DRG2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP. When hydroxylated at C-3 of 'Lys-21' by JMJD7, may bind to RNA and play a role in translation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; Evidence={ECO:0000269|PubMed:29915238};.
GENATLAS Biochemistry:
developmentally regulated GTP-binding protein,41kDa,expressed in normal but not virally transformed fibroblasts

Enzyme Numbers (IUBMB) for DRG2 Gene

Phenotypes From GWAS Catalog for DRG2 Gene

Gene Ontology (GO) - Molecular Function for DRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding IDA 29915238
GO:0003924 GTPase activity IDA 29915238
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with DRG2: view
genes like me logo Genes that share phenotypes with DRG2: view

Animal Models for DRG2 Gene

MGI Knock Outs for DRG2:
  • Drg2 Drg2<tm1Jgwp>
  • Drg2 Drg2<tm1a(EUCOMM)Wtsi>

Animal Models for research

miRNA for DRG2 Gene

miRTarBase miRNAs that target DRG2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRG2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DRG2 Gene

Localization for DRG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DRG2 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DRG2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 29915238
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 29915238
GO:0005829 cytosol IDA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with DRG2: view

Pathways & Interactions for DRG2 Gene

PathCards logo

SuperPathways for DRG2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DRG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002181 cytoplasmic translation IBA 21873635
GO:0007165 signal transduction TAS 7929244
genes like me logo Genes that share ontologies with DRG2: view

No data available for Pathways by source and SIGNOR curated interactions for DRG2 Gene

Drugs & Compounds for DRG2 Gene

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(1) Drugs for DRG2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DRG2: view

Transcripts for DRG2 Gene

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mRNA/cDNA for DRG2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRG2

Alternative Splicing Database (ASD) splice patterns (SP) for DRG2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: - - - - - - - - - -
SP2: - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - - -
SP7: - -
SP8: - -
SP9:
SP10:

Relevant External Links for DRG2 Gene

GeneLoc Exon Structure for
DRG2

Expression for DRG2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DRG2 Gene

mRNA expression in normal human tissues for DRG2 Gene
mRNA expression by BioGPS for DRG2 GenemRNA expression by GTEx for DRG2 Gene

Protein differential expression in normal tissues from HIPED for DRG2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.9) and Salivary gland (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DRG2 Gene



Protein tissue co-expression partners for DRG2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DRG2

SOURCE GeneReport for Unigene cluster for DRG2 Gene:

Hs.78582

mRNA Expression by UniProt/SwissProt for DRG2 Gene:

P55039-DRG2_HUMAN
Tissue specificity: Highest levels in skeletal muscle, heart and kidney. Low levels in colon, thymus, spleen, small intestine, lung and Leukocytes.

Evidence on tissue expression from TISSUES for DRG2 Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with DRG2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DRG2 Gene

Orthologs for DRG2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DRG2 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
 Mammalia DRG2 31
  • 99 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DRG2 31
  • 97 (a)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia DRG2 30 31
  • 93.59 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DRG2 30 31
  • 92.03 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DRG2 30 31
  • 91.3 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Drg2 30 17 31
  • 90.93 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Drg2 30
  • 90.75 (n)
Chicken
(Gallus gallus)
 Aves DRG2 30 31
  • 81.23 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DRG2 31
  • 95 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia drg2 30
  • 79.76 (n)
Str.7109 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC69136 30
Zebrafish
(Danio rerio)
 Actinopterygii drg2 30 31
  • 75.92 (n)
 OneToOne
wufb96a09 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.773 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG6195 30 31 32
  • 73.09 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002185 30
  • 72.82 (n)
Worm
(Caenorhabditis elegans)
 Secernentea C02F5.3 30 31 32
  • 63.83 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AAL134W 30
  • 61.25 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RBG2 30 31 33
  • 57.05 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F14993g 30
  • 56.96 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons DRG1 30
  • 62.64 (n)
Rice
(Oryza sativa)
 Liliopsida Os05g0357600 30
  • 62.27 (n)
Os.7201 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 73 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes gtp1 30
  • 60.7 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU01183 30
  • 60.6 (n)
Species where no ortholog for DRG2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DRG2 Gene

ENSEMBL:
Gene Tree for DRG2 (if available)
TreeFam:
Gene Tree for DRG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DRG2: view image

Paralogs for DRG2 Gene

Paralogs for DRG2 Gene

(6) SIMAP similar genes for DRG2 Gene using alignment to 10 proteins:

  • DRG2_HUMAN
  • A8MZF9_HUMAN
  • J3KRL5_HUMAN
  • J3QKV7_HUMAN
  • J3QKW7_HUMAN
  • J3QL90_HUMAN
  • J3QLF3_HUMAN
  • J3QQI1_HUMAN
  • J3QR71_HUMAN
  • J3QRI9_HUMAN
genes like me logo Genes that share paralogs with DRG2: view

Variants for DRG2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DRG2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs143296623 Benign: not provided 18,100,605(+) G/A
NM_001388.5(DRG2):c.577G>A (p.Val193Ile) 		MISSENSE
rs2230317 Benign: not provided 18,107,222(+) C/T
NM_001388.5(DRG2):c.1077C>T (p.Ile359=) 		SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs34767270 Benign: not provided 18,101,548(+) C/T
NM_001388.5(DRG2):c.687C>T (p.Ile229=) 		SYNONYMOUS
rs17855350 - p.Thr194Met
rs61256737 - p.Ser224Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DRG2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DRG2 Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER inversion 15895083
nsv457697 CNV loss 19166990
nsv499114 OTHER inversion 21111241
nsv574527 CNV loss 21841781
nsv953839 CNV deletion 24416366

Variation tolerance for DRG2 Gene

Residual Variation Intolerance Score: 23.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DRG2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DRG2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DRG2 Gene

Disorders for DRG2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for DRG2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
volkmann contracture
  • volkmann's ischemic contracture
smith-magenis syndrome
  • sms
radial neuropathy
subclavian steal syndrome
  • subclavian artery stenosis
lung adenoid cystic carcinoma
  • adenoid cystic carcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search DRG2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DRG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DRG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DRG2 Gene

Publications for DRG2 Gene

  1. A novel GTP-binding protein which is selectively repressed in SV40 transformed fibroblasts. (PMID: 7929244) Schenker T … Trueb B (The Journal of biological chemistry 1994) 2 3 4
  2. The Jumonji-C oxygenase JMJD7 catalyzes (3S)-lysyl hydroxylation of TRAFAC GTPases. (PMID: 29915238) Markolovic S … Schofield CJ (Nature chemical biology 2018) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for DRG2 gene in Mastermind

Products for DRG2 Gene

Sources for DRG2 Gene