Aliases for RALGPS2 Gene

Aliases for RALGPS2 Gene

  • Ral GEF With PH Domain And SH3 Binding Motif 2 2 3 5
  • Ras-Specific Guanine Nucleotide-Releasing Factor RalGPS2 3 4
  • Ral GEF With PH Domain And SH3-Binding Motif 2 3 4
  • RalA Exchange Factor RalGPS2 3 4
  • Ral-A Exchange Factor RalGPS2 3
  • DJ595C2.1 3
  • KIAA0351 2
  • FLJ10244 2
  • FLJ25604 2
  • RALGPS2 5

External Ids for RALGPS2 Gene

Previous GeneCards Identifiers for RALGPS2 Gene

  • GC01P175934
  • GC01P175425
  • GC01P176960
  • GC01P178694
  • GC01P149922

Summaries for RALGPS2 Gene

GeneCards Summary for RALGPS2 Gene

RALGPS2 (Ral GEF With PH Domain And SH3 Binding Motif 2) is a Protein Coding gene. Diseases associated with RALGPS2 include Alzheimer Disease. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGPS1.

UniProtKB/Swiss-Prot Summary for RALGPS2 Gene

  • Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion (By similarity).

Additional gene information for RALGPS2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RALGPS2 Gene

Genomics for RALGPS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RALGPS2 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
GH01J178724 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.2 +1.5 1452 4.4 CREB1 GATAD2A PRDM10 ZNF629 IKZF1 JUND FOXA1 LARP7 PRDM1 RBFOX2 ENSG00000273062 RALGPS2 MF281487 ENSG00000201791 ANGPTL1 TDRD5 LOC646976
GH01J178664 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 623.7 -59.6 -59646 3.8 YY1 CEBPB TCF12 NBN CEBPG SPI1 POLR2A RAD51 CTCF RALGPS2 C1orf220 CLEC20A ENSG00000273384 MIR4424 TEX35
GH01J178682 Enhancer 1.1 Ensembl ENCODE 35 -40.7 -40746 4.8 GATAD2A TFE3 SOX13 NFKBIZ RCOR2 RXRB IRF2 IKZF2 GABPA CEBPA RALGPS2 lnc-RALGPS2-4 MIR4424 TEX35
GH01J178598 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 25.3 -118.8 -118846 17.4 CEBPG SP1 BACH1 ZIC2 TCF12 IKZF2 POLR2A PKNOX1 CEBPA EED RALGPS2 C1orf220 TEX35 TOR3A lnc-TEX35-4 lnc-TEX35-5
GH01J179023 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +300.7 300746 3.9 SP1 HNRNPL GATAD2A PRDM10 LEF1 IKZF1 ZNF692 BACH1 TARDBP ETV6 FAM20B TOR3A RALGPS2 CEP350 AXDND1 ENSG00000232750 lnc-ABL2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RALGPS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RALGPS2

Top Transcription factor binding sites by QIAGEN in the RALGPS2 gene promoter:
  • AML1a
  • C/EBPalpha
  • Gfi-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Pbx1a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for RALGPS2 Gene

Genomic Locations for RALGPS2 Gene
chr1:178,725,147-178,921,842
(GRCh38/hg38)
Size:
196,696 bases
Orientation:
Plus strand
chr1:178,694,300-178,889,238
(GRCh37/hg19)
Size:
194,939 bases
Orientation:
Plus strand

Genomic View for RALGPS2 Gene

Genes around RALGPS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RALGPS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RALGPS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RALGPS2 Gene

Proteins for RALGPS2 Gene

  • Protein details for RALGPS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86X27-RGPS2_HUMAN
    Recommended name:
    Ras-specific guanine nucleotide-releasing factor RalGPS2
    Protein Accession:
    Q86X27
    Secondary Accessions:
    • B7Z7B1
    • Q5T5Z1
    • Q5VZ67
    • Q9NW78

    Protein attributes for RALGPS2 Gene

    Size:
    583 amino acids
    Molecular mass:
    65167 Da
    Quaternary structure:
    • Interacts with the SH3 domains of GRB2 and PLCG1. Interacts with RALA.

    Alternative splice isoforms for RALGPS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RALGPS2 Gene

Post-translational modifications for RALGPS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RALGPS2 Gene

Domains & Families for RALGPS2 Gene

Gene Families for RALGPS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RALGPS2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • Guanine-nucleotide dissociation stimulator CDC25
ProtoNet:

Suggested Antigen Peptide Sequences for RALGPS2 Gene

GenScript: Design optimal peptide antigens:
  • Ral GEF with PH domain and SH3 binding motif 2 (B1AMV0_HUMAN)
  • Ral GEF with PH domain and SH3 binding motif 2 (B1AMV1_HUMAN)
  • Ral GEF with PH domain and SH3 binding motif 2 (B1AMV2_HUMAN)
  • RalA exchange factor RalGPS2 (RGPS2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86X27

UniProtKB/Swiss-Prot:

RGPS2_HUMAN :
  • The PH domain mediates binding to phosphatidylinositol 4,5-bisphosphate.
Domain:
  • The PH domain mediates binding to phosphatidylinositol 4,5-bisphosphate.
genes like me logo Genes that share domains with RALGPS2: view

Function for RALGPS2 Gene

Molecular function for RALGPS2 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion (By similarity).

Phenotypes From GWAS Catalog for RALGPS2 Gene

Gene Ontology (GO) - Molecular Function for RALGPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with RALGPS2: view
genes like me logo Genes that share phenotypes with RALGPS2: view

Animal Models for RALGPS2 Gene

MGI Knock Outs for RALGPS2:
  • Ralgps2 Ralgps2<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RALGPS2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RALGPS2 Gene

Localization for RALGPS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RALGPS2 Gene

Cytoplasm. Cell membrane. Note=Associates with membranes through the PH domain. {ECO:0000250}.

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 RALGPS2 gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RALGPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RALGPS2: view

Pathways & Interactions for RALGPS2 Gene

PathCards logo

SuperPathways for RALGPS2 Gene

No Data Available

Pathways by source for RALGPS2 Gene

1 GeneTex pathway for RALGPS2 Gene

Gene Ontology (GO) - Biological Process for RALGPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0032485 regulation of Ral protein signal transduction IEA --
genes like me logo Genes that share ontologies with RALGPS2: view

No data available for SIGNOR curated interactions for RALGPS2 Gene

Drugs & Compounds for RALGPS2 Gene

(3) Drugs for RALGPS2 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 RALGPS2: view

Transcripts for RALGPS2 Gene

mRNA/cDNA for RALGPS2 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RALGPS2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RALGPS2 Gene

No ASD Table

Relevant External Links for RALGPS2 Gene

GeneLoc Exon Structure for
RALGPS2

Expression for RALGPS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RALGPS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RALGPS2 Gene

This gene is overexpressed in Testis (x4.4).

Protein differential expression in normal tissues from HIPED for RALGPS2 Gene

This gene is overexpressed in Testis (37.6) and Blymphocyte (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RALGPS2 Gene



Protein tissue co-expression partners for RALGPS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RALGPS2

SOURCE GeneReport for Unigene cluster for RALGPS2 Gene:

Hs.632485

Evidence on tissue expression from TISSUES for RALGPS2 Gene

  • Blood(4.4)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with RALGPS2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RALGPS2 Gene

Orthologs for RALGPS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RALGPS2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RALGPS2 30 31
  • 99.77 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RALGPS2 31
  • 98 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RALGPS2 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RALGPS2 30 31
  • 95.08 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RALGPS2 30 31
  • 94.79 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ralgps2 30 17 31
  • 89.02 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RALGPS1 31
  • 96 (a)
OneToOne
RALGPS2 30
  • 85.31 (n)
Lizard
(Anolis carolinensis)
Reptilia RALGPS2 31
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ralgps2 30
  • 79.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii ralgps2 30 31
  • 71.61 (n)
OneToOne
zgc63650 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7645 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5522 31
  • 34 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC25 31
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5548 31
  • 46 (a)
OneToMany
Species where no ortholog for RALGPS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RALGPS2 Gene

ENSEMBL:
Gene Tree for RALGPS2 (if available)
TreeFam:
Gene Tree for RALGPS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RALGPS2: view image

Paralogs for RALGPS2 Gene

(1) SIMAP similar genes for RALGPS2 Gene using alignment to 3 proteins:

  • RGPS2_HUMAN
  • H0Y338_HUMAN
  • H7C2H2_HUMAN
genes like me logo Genes that share paralogs with RALGPS2: view

Variants for RALGPS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RALGPS2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
784965 Benign: not provided 178,852,705(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs35161510 - p.Asn225Ser

Additional dbSNP identifiers (rs#s) for RALGPS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RALGPS2 Gene

Variant ID Type Subtype PubMed ID
nsv1005359 CNV loss 25217958
nsv1014249 CNV gain 25217958
nsv1124600 CNV duplication 24896259
nsv3710 CNV insertion 18451855
nsv466206 CNV gain 19166990
nsv470748 CNV gain 18288195
nsv525444 CNV loss 19592680
nsv548265 CNV gain 21841781
nsv825498 CNV loss 20364138
nsv946519 CNV duplication 23825009
nsv947455 CNV duplication 23825009

Variation tolerance for RALGPS2 Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.86; 34.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RALGPS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RALGPS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RALGPS2 Gene

Disorders for RALGPS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RALGPS2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RGPS2_HUMAN
  • Note=RALGPS2 is a potential candidate gene for susceptibility to Alzheimer disease linked to 1q24. {ECO:0000269 PubMed:17564960}.

Additional Disease Information for RALGPS2

genes like me logo Genes that share disorders with RALGPS2: view

No data available for Genatlas for RALGPS2 Gene

Publications for RALGPS2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. A growing family of guanine nucleotide exchange factors is responsible for activation of Ras-family GTPases. (PMID: 12102558) Quilliam LA … Castro AF (Progress in nucleic acid research and molecular biology 2002) 2 3
  3. Identification and characterization of a new family of guanine nucleotide exchange factors for the ras-related GTPase Ral. (PMID: 10747847) Rebhun JF … Quilliam LA (The Journal of biological chemistry 2000) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3

Products for RALGPS2 Gene

Sources for RALGPS2 Gene