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Aliases for RALGDS Gene

Aliases for RALGDS Gene

  • Ral Guanine Nucleotide Dissociation Stimulator 2 3 3 5
  • Ral Guanine Nucleotide Exchange Factor 3 4
  • RalGEF 3 4
  • RGF 3 4
  • KIAA1308 4
  • RalGDS 4
  • RGDS 3

External Ids for RALGDS Gene

Previous GeneCards Identifiers for RALGDS Gene

  • GC09U990066
  • GC09M127529
  • GC09M129327
  • GC09M131249
  • GC09M133002
  • GC09M134962
  • GC09M135973
  • GC09M105466

Summaries for RALGDS Gene

Entrez Gene Summary for RALGDS Gene

  • Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]

GeneCards Summary for RALGDS Gene

RALGDS (Ral Guanine Nucleotide Dissociation Stimulator) is a Protein Coding gene. Diseases associated with RALGDS include Aortic Valve Insufficiency. Among its related pathways are EGF/EGFR Signaling Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and GTPase regulator activity. An important paralog of this gene is ENSG00000285245.

UniProtKB/Swiss-Prot for RALGDS Gene

  • Stimulates the dissociation of GDP from the Ras-related RalA and RalB GTPases which allows GTP binding and activation of the GTPases. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap.

Gene Wiki entry for RALGDS Gene

Additional gene information for RALGDS Gene

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

Genomics for RALGDS Gene

GeneHancer (GH) Regulatory Elements for RALGDS Gene

Promoters and enhancers for RALGDS 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
GH09J133112 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 695 +20.4 20362 33.8 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 RALGDS GTF3C5 SETX BRD3 MED22 DDX31 TTF1 GTF3C4 TSC1 RPL7A
GH09J133146 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661 +0.9 853 3.2 HDGF PKNOX1 CLOCK MLX ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B RALGDS GTF3C5 DDX31 SETX TSC1 MED22 RPL7A TTF1 BRD3 EEF1A1P5
GH09J133108 Promoter/Enhancer 1 EPDnew dbSUPER 650.3 +40.9 40937 0.1 ZBTB6 ARNT NFRKB ZNF600 TRIM24 ZBTB26 RALGDS GC09M133093 ENSG00000285245
GH09J133098 Promoter 0.6 EPDnew 650.2 +51.2 51161 0.1 HIC1 RALGDS GC09M133093 ENSG00000285245
GH09J133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 8.1 +118.6 118627 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 GTF3C5 LOC105376306 SETX TTF1 MED22 DDX31 TSC1 GTF3C4 BRD3OS SPACA9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RALGDS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RALGDS gene promoter:
  • STAT3
  • STAT5A
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • FOXF2

Genomic Locations for RALGDS Gene

Genomic Locations for RALGDS Gene
chr9:133,097,720-133,149,334
(GRCh38/hg38)
Size:
51,615 bases
Orientation:
Minus strand
chr9:135,973,107-136,039,301
(GRCh37/hg19)
Size:
66,195 bases
Orientation:
Minus strand

Genomic View for RALGDS Gene

Genes around RALGDS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RALGDS Gene

Proteins for RALGDS Gene

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

    Protein Symbol:
    Q12967-GNDS_HUMAN
    Recommended name:
    Ral guanine nucleotide dissociation stimulator
    Protein Accession:
    Q12967
    Secondary Accessions:
    • B7Z753
    • E7ER93
    • E7ERZ0
    • Q5T7V4
    • Q6KH11
    • Q6PCE1
    • Q6ZSD5
    • Q9HAX7
    • Q9HAY1
    • Q9HCT1
    • Q9P2N8

    Protein attributes for RALGDS Gene

    Size:
    914 amino acids
    Molecular mass:
    100607 Da
    Quaternary structure:
    • Interacts with RIT1 and RIT2.

    Three dimensional structures from OCA and Proteopedia for RALGDS Gene

    Alternative splice isoforms for RALGDS Gene

neXtProt entry for RALGDS Gene

Post-translational modifications for RALGDS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RALGDS Gene

Domains & Families for RALGDS Gene

Gene Families for RALGDS Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q12967

UniProtKB/Swiss-Prot:

GNDS_HUMAN :
  • The Ras-associating domain interacts with Ras.
Domain:
  • The Ras-associating domain interacts with Ras.
genes like me logo Genes that share domains with RALGDS: view

Function for RALGDS Gene

Molecular function for RALGDS Gene

UniProtKB/Swiss-Prot Function:
Stimulates the dissociation of GDP from the Ras-related RalA and RalB GTPases which allows GTP binding and activation of the GTPases. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap.
GENATLAS Biochemistry:
Ral guanine nucleotide dissociation stimulator,related protein,115kDa,involved in signal transduction

Phenotypes From GWAS Catalog for RALGDS Gene

Gene Ontology (GO) - Molecular Function for RALGDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 20936779
GO:0030695 GTPase regulator activity NAS 9365783
genes like me logo Genes that share ontologies with RALGDS: view
genes like me logo Genes that share phenotypes with RALGDS: view

Animal Models for RALGDS Gene

MGI Knock Outs for RALGDS:

Animal Model Products

Clone Products

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

Localization for RALGDS Gene

Subcellular locations from UniProtKB/Swiss-Prot for RALGDS Gene

Cytoplasm. Nucleus. Note=Localizes mainly in the peripheral region of the cytoplasmic membrane in oocytes and in preimplantation embryos until the 8-cell stage. Between the late 1-cell and the early 2-cell stages, nuclear localization becomes stronger. After the 4-cell stage, not detected in the nucleus. {ECO:0000250 UniProtKB:Q03385}.

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 RALGDS gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
plasma membrane 2
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RALGDS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA,IDA 22797597
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005903 brush border IDA 22797597
genes like me logo Genes that share ontologies with RALGDS: view

Pathways & Interactions for RALGDS Gene

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

Gene Ontology (GO) - Biological Process for RALGDS 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 TAS --
GO:0050790 regulation of catalytic activity IEA --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with RALGDS: view

No data available for SIGNOR curated interactions for RALGDS Gene

Drugs & Compounds for RALGDS Gene

(2) Drugs for RALGDS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(4) Additional Compounds for RALGDS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RALGDS: view

Transcripts for RALGDS Gene

Unigene Clusters for RALGDS Gene

Ral guanine nucleotide dissociation stimulator:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - - - - - - - - - - - - - - - - -
SP7: - -
SP8: -
SP9:
SP10: -
SP11: -
SP12:
SP13:
SP14:

ExUns: 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5: -
SP6: -
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -

Relevant External Links for RALGDS Gene

GeneLoc Exon Structure for
RALGDS
ECgene alternative splicing isoforms for
RALGDS

Expression for RALGDS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RALGDS Gene

This gene is overexpressed in Adipocyte (29.4), Brain (29.0), and Heart (10.6).

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



Protein tissue co-expression partners for RALGDS Gene

NURSA nuclear receptor signaling pathways regulating expression of RALGDS Gene:

RALGDS

SOURCE GeneReport for Unigene cluster for RALGDS Gene:

Hs.106185

Evidence on tissue expression from TISSUES for RALGDS Gene

  • Nervous system(4.9)
  • Lung(2.7)
  • Skin(2.6)
  • Heart(2.5)
  • Blood(2.4)
  • Bone marrow(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with RALGDS: 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 RALGDS Gene

Orthologs for RALGDS Gene

This gene was present in the common ancestor of chordates.

Orthologs for RALGDS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RALGDS 34 33
  • 97.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RALGDS 34 33
  • 88.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RALGDS 34 33
  • 88.26 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ralgds 33
  • 85.34 (n)
mouse
(Mus musculus)
Mammalia Ralgds 16 34 33
  • 85.33 (n)
oppossum
(Monodelphis domestica)
Mammalia RALGDS 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RALGDS 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves RALGDS 34 33
  • 78.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RALGDS 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ralgds 33
  • 74.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28864 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-251j10.3 33
  • 65.66 (n)
RALGDS 34
  • 62 (a)
OneToOne
rab2l 33
Species where no ortholog for RALGDS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 RALGDS Gene

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

Paralogs for RALGDS Gene

(9) SIMAP similar genes for RALGDS Gene using alignment to 9 proteins:

  • GNDS_HUMAN
  • E7ER93_HUMAN
  • E7ERZ0_HUMAN
  • F5H6M6_HUMAN
  • Q5T7U6_HUMAN
  • Q6PCE1_HUMAN
  • Q9HAX8_HUMAN
  • Q9HAX9_HUMAN
  • Q9HAY0_HUMAN

Pseudogenes.org Pseudogenes for RALGDS Gene

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

Variants for RALGDS Gene

Sequence variations from dbSNP and Humsavar for RALGDS Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
VAR_035822 A colorectal cancer sample p.Arg496Leu
rs1000014603 -- 133,129,945(-) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000056068 -- 133,136,160(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000085967 -- 133,099,554(-) T/C intron_variant
rs1000139305 -- 133,114,621(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv12928n54 CNV loss 21841781
dgv12929n54 CNV loss 21841781
esv1008406 CNV deletion 20482838
esv1320546 CNV deletion 17803354
esv2672482 CNV deletion 23128226
esv2739138 CNV deletion 23290073
esv2739149 CNV deletion 23290073
nsv1076212 CNV deletion 25765185
nsv1077185 CNV deletion 25765185
nsv1115242 CNV deletion 24896259
nsv1115243 CNV deletion 24896259
nsv466610 CNV loss 19166990
nsv508565 CNV deletion 20534489
nsv831744 CNV gain+loss 17160897
nsv951797 CNV deletion 24416366

Variation tolerance for RALGDS Gene

Residual Variation Intolerance Score: 7.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.34; 88.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RALGDS Gene

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

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

Disorders for RALGDS Gene

MalaCards: The human disease database

(1) MalaCards diseases for RALGDS Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
aortic valve insufficiency
  • aortic incompetence
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RALGDS

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

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

Publications for RALGDS Gene

  1. Activated Ras interacts with the Ral guanine nucleotide dissociation stimulator. (PMID: 7972015) Hofer F … Martin GS (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 58
  2. Guanine exchange factor RalGDS mediates exocytosis of Weibel-Palade bodies from endothelial cells. (PMID: 18417737) Rondaij MG … Voorberg J (Blood 2008) 3 22 58
  3. RalA functions as an indispensable signal mediator for the nutrient-sensing system. (PMID: 18948269) Maehama T … Hanada K (The Journal of biological chemistry 2008) 3 22 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Activation of Ras-Ral pathway attenuates p53-independent DNA damage G2 checkpoint. (PMID: 15208305) Agapova LS … Kopnin BP (The Journal of biological chemistry 2004) 3 22 58

Products for RALGDS Gene

Sources for RALGDS Gene

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