Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RGL2 Gene

Aliases for RGL2 Gene

  • Ral Guanine Nucleotide Dissociation Stimulator Like 2 2 3 5
  • Ras-Associated Protein RAB2L 3 4
  • RalGDS-Like Factor 3 4
  • RalGDS-Like 2 3 4
  • RAB2L 3 4
  • Ral Guanine Nucleotide Dissociation Stimulator-Like 2 3
  • RAB2, Member RAS Oncogene Family-Like 2
  • GDS-Related Protein 3
  • HKE1.5 3
  • KE1.5 3

External Ids for RGL2 Gene

Previous HGNC Symbols for RGL2 Gene

  • RAB2L

Previous GeneCards Identifiers for RGL2 Gene

  • GC06M033307
  • GC06M033367
  • GC06M033259
  • GC06M033001

Summaries for RGL2 Gene

GeneCards Summary for RGL2 Gene

RGL2 (Ral Guanine Nucleotide Dissociation Stimulator Like 2) is a Protein Coding gene. Diseases associated with RGL2 include Tumoral Calcinosis, Normophosphatemic, Familial and Familial Tumoral Calcinosis. Among its related pathways are G-protein signaling N-RAS regulation pathway and Cytoskeleton remodeling_RalA regulation pathway. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and Ras guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGDS.

UniProtKB/Swiss-Prot for RGL2 Gene

  • Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity).

Gene Wiki entry for RGL2 Gene

Additional gene information for RGL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RGL2 Gene

Genomics for RGL2 Gene

GeneHancer (GH) Regulatory Elements for RGL2 Gene

Promoters and enhancers for RGL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I033296 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 570.7 +0.7 712 4 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC RGL2 BRD2 VPS52 TAPBP WDR46 LEMD2 RXRB DAXX RPL35P2 RPS18
GH06I032965 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 92.7 +328.8 328783 10.4 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ZNF263 BRD2 HLA-DMA ENSG00000223837 LEMD2 VPS52 RXRB ATF6B DAXX HCG25 RING1
GH06I033270 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 49.9 +24.3 24323 8.4 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 RPS18 VPS52 B3GALT4 PIR43330 BRD2 LEMD2 DAXX RXRB RING1 WDR46
GH06I034233 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 39 -942.8 -942804 17.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SMIM29 MIR6835 HMGA1 LEMD2 DAXX WDR46 VPS52 TAF11 RGL2 HCG25
GH06I033390 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 41.4 -93.2 -93193 4.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 KIFC1 DAXX BRD2 LEMD2 RXRB RGL2 WDR46 VPS52 RPS18 HLA-DOB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RGL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RGL2 gene promoter:

Genomic Locations for RGL2 Gene

Genomic Locations for RGL2 Gene
chr6:33,291,654-33,299,452
(GRCh38/hg38)
Size:
7,799 bases
Orientation:
Minus strand
chr6:33,259,431-33,267,176
(GRCh37/hg19)

Genomic View for RGL2 Gene

Genes around RGL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RGL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RGL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for RGL2 Gene

  • Protein details for RGL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15211-RGL2_HUMAN
    Recommended name:
    Ral guanine nucleotide dissociation stimulator-like 2
    Protein Accession:
    O15211
    Secondary Accessions:
    • B4DG72
    • Q5STK0
    • Q9Y3F3

    Protein attributes for RGL2 Gene

    Size:
    777 amino acids
    Molecular mass:
    83549 Da
    Quaternary structure:
    • Interacts with SAMD9.

    Alternative splice isoforms for RGL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RGL2 Gene

Post-translational modifications for RGL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RGL2 Gene

No data available for DME Specific Peptides for RGL2 Gene

Domains & Families for RGL2 Gene

Gene Families for RGL2 Gene

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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RGL2: view

No data available for UniProtKB/Swiss-Prot for RGL2 Gene

Function for RGL2 Gene

Molecular function for RGL2 Gene

UniProtKB/Swiss-Prot Function:
Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity).

Phenotypes From GWAS Catalog for RGL2 Gene

Gene Ontology (GO) - Molecular Function for RGL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity NAS 8976381
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RGL2: view
genes like me logo Genes that share phenotypes with RGL2: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RGL2 Gene

Localization for RGL2 Gene

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 RGL2 gene
Compartment Confidence
cytosol 3
mitochondrion 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RGL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with RGL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RGL2 Gene

Pathways & Interactions for RGL2 Gene

genes like me logo Genes that share pathways with RGL2: view

Pathways by source for RGL2 Gene

1 GeneTex pathway for RGL2 Gene
1 KEGG pathway for RGL2 Gene

Gene Ontology (GO) - Biological Process for RGL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007265 Ras protein signal transduction NAS 8976381
GO:0010667 negative regulation of cardiac muscle cell apoptotic process IEA --
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IEA --
genes like me logo Genes that share ontologies with RGL2: view

No data available for SIGNOR curated interactions for RGL2 Gene

Drugs & Compounds for RGL2 Gene

(3) Drugs for RGL2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RGL2: view

Transcripts for RGL2 Gene

Unigene Clusters for RGL2 Gene

Ral guanine nucleotide dissociation stimulator-like 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RGL2 Gene

No ASD Table

Relevant External Links for RGL2 Gene

GeneLoc Exon Structure for
RGL2
ECgene alternative splicing isoforms for
RGL2

Expression for RGL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RGL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RGL2 Gene

This gene is overexpressed in Heart (27.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RGL2 Gene



Protein tissue co-expression partners for RGL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RGL2 Gene:

RGL2

SOURCE GeneReport for Unigene cluster for RGL2 Gene:

Hs.509622

Evidence on tissue expression from TISSUES for RGL2 Gene

  • Nervous system(4.7)
  • Liver(4.1)
  • Lung(2.7)
genes like me logo Genes that share expression patterns with RGL2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RGL2 Gene

Orthologs for RGL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RGL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RGL2 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia RGL2 33 34
  • 91.29 (n)
cow
(Bos Taurus)
Mammalia RGL2 33 34
  • 89.53 (n)
rat
(Rattus norvegicus)
Mammalia Rgl2 33
  • 87.44 (n)
mouse
(Mus musculus)
Mammalia Rgl2 33 16 34
  • 87.31 (n)
oppossum
(Monodelphis domestica)
Mammalia RGL2 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia RGL2 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rgl2 33
  • 51.84 (n)
zebrafish
(Danio rerio)
Actinopterygii rgl2 33 34
  • 52.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rgl 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rgl-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 17 (a)
OneToMany
Species where no ortholog for RGL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RGL2 Gene

ENSEMBL:
Gene Tree for RGL2 (if available)
TreeFam:
Gene Tree for RGL2 (if available)

Paralogs for RGL2 Gene

genes like me logo Genes that share paralogs with RGL2: view

Variants for RGL2 Gene

Sequence variations from dbSNP and Humsavar for RGL2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000156828 -- 33,298,156(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000414397 -- 33,294,906(-) C/T intron_variant
rs1000726351 -- 33,300,253(-) A/G upstream_transcript_variant
rs1000999105 -- 33,301,233(-) C/G upstream_transcript_variant
rs1001539749 -- 33,294,516(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RGL2 Gene

Variant ID Type Subtype PubMed ID
esv3353999 CNV duplication 20981092
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv830634 CNV loss 17160897
nsv830635 CNV loss 17160897

Variation tolerance for RGL2 Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.84; 79.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RGL2 Gene

Human Gene Mutation Database (HGMD)
RGL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RGL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RGL2 Gene

Disorders for RGL2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RGL2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
tumoral calcinosis, normophosphatemic, familial
  • nftc
familial tumoral calcinosis
calcinosis
  • pathologic calcification
- elite association - COSMIC cancer census association via MalaCards
Search RGL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RGL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RGL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RGL2 Gene

Publications for RGL2 Gene

  1. Isolation and mapping of RAB2L, a human cDNA that encodes a protein homologous to RalGDS. (PMID: 8976381) Isomura M … Nakamura Y (Cytogenetics and cell genetics 1996) 2 3 4 58
  2. Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (PMID: 21160498) Hershkovitz D … Sprecher E (The Journal of investigative dermatology 2011) 3 4 58
  3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 44 58
  4. G-protein binding features and regulation of the RalGDS family member, RGL2. (PMID: 18540861) Ferro E … Trabalzini L (The Biochemical journal 2008) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for RGL2 Gene

Sources for RGL2 Gene