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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, Familial, Normophosphatemic and Calcinosis. Among its related pathways are Cytoskeleton remodeling_RalA regulation pathway and Ras signaling pathway. 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

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

Regulatory Elements for RGL2 Gene

Enhancers for RGL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G033270 1.5 ENCODE dbSUPER 37 +24.3 24324 8.4 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC RPS18 DAXX WDR46 BRD2 VPS52 RGL2 LEMD2 RXRB ITPR3 RING1
GH06G034233 1.7 Ensembl ENCODE dbSUPER 19.5 -942.8 -942805 17.1 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC WDR46 RPS10 DAXX LEMD2 VPS52 RGL2 HCG25 ITPR3 SYNGAP1 ZBTB22
GH06G032965 1.5 ENCODE dbSUPER 21.6 +328.8 328784 10.4 CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 BRD2 RING1 RXRB VPS52 LEMD2 PPT2 PRRT1 ATF6B HLA-DMA DAXX
GH06G034223 2 FANTOM5 Ensembl ENCODE dbSUPER 13.7 -925.0 -924986 2.7 HDGF ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 ZBTB7B ZNF766 ZNF207 RPS10 ITPR3 LEMD2 DAXX RGL2 WDR46 B3GALT4 VPS52 HCG25 NUDT3
GH06G033373 1.2 Ensembl ENCODE 22.1 -76.0 -76023 3.1 HDGF PKNOX1 ATF1 ZNF2 GTF3C2 CAVIN1 NCOA1 REST ZNF592 CREB3 WDR46 DAXX RGL2 VPS52 BRD2 LEMD2 ITPR3 RXRB PHF1 ZBTB22
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RGL2 on UCSC Golden Path with GeneCards custom track

Promoters for RGL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195776 452 3201 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21 SSRP1

Genomic Location for RGL2 Gene

Chromosome:
6
Start:
33,291,654 bp from pter
End:
33,299,452 bp from pter
Size:
7,799 bases
Orientation:
Minus strand

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

No data available for Gene Families and 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).

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

Animal Model Products

Inhibitory RNA 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

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:

Inhibitory RNA 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

Primer Products

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 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia RGL2 34 35
  • 91.29 (n)
cow
(Bos Taurus)
Mammalia RGL2 34 35
  • 89.53 (n)
rat
(Rattus norvegicus)
Mammalia Rgl2 34
  • 87.44 (n)
mouse
(Mus musculus)
Mammalia Rgl2 34 16 35
  • 87.31 (n)
oppossum
(Monodelphis domestica)
Mammalia RGL2 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 22 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia RGL2 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rgl2 34
  • 51.84 (n)
zebrafish
(Danio rerio)
Actinopterygii rgl2 34 35
  • 52.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rgl 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rgl-1 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000156828 -- 33,298,156(+) CTGCT(C/T)AGAGA intron-variant, upstream-variant-2KB
rs1000414397 -- 33,294,906(+) GGCTG(C/T)TCCCC intron-variant
rs1000726351 -- 33,300,253(+) GAAGA(A/G)TGGAT upstream-variant-2KB, utr-variant-3-prime
rs1000999105 -- 33,301,233(+) CTGTC(C/G)TAGAG upstream-variant-2KB, utr-variant-3-prime
rs1001539749 -- 33,294,516(+) CTATT(C/T)CTAGT 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)

Relevant External Links for RGL2 Gene

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

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: DISEASES and GeneCards

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

Relevant External Links for RGL2

Genetic Association Database (GAD)
RGL2
Human Genome Epidemiology (HuGE) Navigator
RGL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RGL2
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. (Cytogenet. Cell Genet. 1996) 2 3 4 64
  2. Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. (PMID: 21160498) Hershkovitz D. … Sprecher E. (J. Invest. Dermatol. 2011) 3 4 64
  3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos L.F. … Criswell L.A. (PLoS Genet. 2009) 3 46 64
  4. G-protein binding features and regulation of the RalGDS family member, RGL2. (PMID: 18540861) Ferro E. … Trabalzini L. (Biochem. J. 2008) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for RGL2 Gene

Sources for RGL2 Gene

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