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Aliases for RALGPS2 Gene

Aliases for RALGPS2 Gene

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

External Ids for RALGPS2 Gene

Previous GeneCards Identifiers for RALGPS2 Gene

  • GC01P175934
  • GC01P175425
  • GC01P176960
  • 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. GO annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGPS1.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for RALGPS2 Gene

Genomics for RALGPS2 Gene

Regulatory Elements for RALGPS2 Gene

Enhancers for RALGPS2 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
GH01H178603 1.7 FANTOM5 Ensembl ENCODE dbSUPER 25.3 -115.9 -115905 10 PKNOX1 NFIB BATF RAD21 RFX5 ZNF207 ATF7 FOS RUNX3 IKZF2 RALGPS2 TEX35 C1orf220 TOR3A GC01P178598 GC01M178650
GH01H178683 1 Ensembl ENCODE 35 -40.3 -40290 2 TBP JUN ZNF384 BATF RARA RFX5 POLR2A RCOR1 ATF7 FOS RALGPS2 GC01P178687 MIR4424
GH01H179023 1.7 FANTOM5 ENCODE dbSUPER 10.5 +300.7 300747 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF766 CBX5 TOR3A FAM20B RALGPS2 CEP350 AXDND1 GC01M179035
GH01H178580 1.2 FANTOM5 ENCODE dbSUPER 10.1 -143.7 -143660 1 NFIB EBF1 RELA SP1 LCORL NFIC POLR2A EED RUNX3 IKZF2 TEX35 C1orf220 RALGPS2 LOC105371632 GC01P178598
GH01H179364 1.1 ENCODE 9.8 +640.6 640594 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B YY1 AXDND1 TDRD5 RN7SL230P ENSG00000261831 CLEC20A LHX4 RALGPS2 SOAT1 TOR3A MEF2AP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RALGPS2 on UCSC Golden Path with GeneCards custom track

Promoters for RALGPS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000016375 853 2801 ATF1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 GLIS2 ATF7

Genomic Location for RALGPS2 Gene

Chromosome:
1
Start:
178,725,147 bp from pter
End:
178,921,842 bp from pter
Size:
196,696 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.
    SequenceCaution:
    • Sequence=CAH71098.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21919.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21925.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    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

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).

Gene Ontology (GO) - Molecular Function for RALGPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 15324660
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RALGPS2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
nucleus 4
cytosol 4
plasma membrane 3
extracellular 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:0005622 intracellular IEA --
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

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 --
GO:0043547 positive regulation of GTPase activity 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

Unigene Clusters for RALGPS2 Gene

Ral GEF with PH domain and SH3 binding motif 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RALGPS2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for RALGPS2 Gene

GeneLoc Exon Structure for
RALGPS2
ECgene alternative splicing isoforms for
RALGPS2

Expression for RALGPS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of RALGPS2 Gene:

RALGPS2

SOURCE GeneReport for Unigene cluster for RALGPS2 Gene:

Hs.632485

Evidence on tissue expression from TISSUES for RALGPS2 Gene

  • Liver(4.3)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with RALGPS2: view

Primer Products

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 34 33
  • 99.77 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RALGPS2 34
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RALGPS2 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RALGPS2 33 34
  • 95.08 (n)
cow
(Bos Taurus)
Mammalia RALGPS2 33 34
  • 94.79 (n)
mouse
(Mus musculus)
Mammalia Ralgps2 34 16 33
  • 89.02 (n)
OneToOne
chicken
(Gallus gallus)
Aves RALGPS1 34
  • 96 (a)
OneToOne
RALGPS2 33
  • 85.31 (n)
lizard
(Anolis carolinensis)
Reptilia RALGPS2 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ralgps2 33
  • 79.27 (n)
zebrafish
(Danio rerio)
Actinopterygii ralgps2 34 33
  • 71.61 (n)
OneToOne
zgc63650 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7645 33
fruit fly
(Drosophila melanogaster)
Insecta CG5522 34
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC25 34
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5548 34
  • 46 (a)
OneToMany
Species where no ortholog for RALGPS2 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)
  • 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 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)

Paralogs for RALGPS2 Gene

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

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

Variants for RALGPS2 Gene

Sequence variations from dbSNP and Humsavar for RALGPS2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000001605 -- 178,763,631(+) TTTTT(C/G)CTTTG intron-variant
rs1000011753 -- 178,889,950(+) AACTT(-/AAA)AATAA intron-variant
rs1000020725 -- 178,847,395(+) GAGCC(A/G)AGATT intron-variant
rs1000047323 -- 178,801,293(+) ATAGC(C/T)ATACT intron-variant
rs1000079363 -- 178,839,338(+) GCAGA(-/AG)AGAGT intron-variant

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)

Relevant External Links 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

UniProtKB/Swiss-Prot

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

Relevant External Links for RALGPS2

Genetic Association Database (GAD)
RALGPS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RALGPS2

No disorders were found for RALGPS2 Gene.

No data available for MalaCards and 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 60
  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 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 60

Products for RALGPS2 Gene

Sources for RALGPS2 Gene

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