Aliases for RALGAPA2 Gene

Aliases for RALGAPA2 Gene

  • Ral GTPase Activating Protein Catalytic Subunit Alpha 2 2 3 5
  • AS250 2 3 4
  • Ral GTPase-Activating Protein Subunit Alpha-2 3 4
  • 250 KDa Substrate Of Akt 3 4
  • RapGAPalpha2 2 3
  • DJ1049G11.4 2 3
  • C20orf74 3 4
  • KIAA1272 2 4
  • P220 3 4
  • Ral GTPase Activating Protein, Alpha Subunit 2 (Catalytic) 3
  • Ral GTPase Activating Protein Catalytic Alpha Subunit 2 3
  • Ral GTPase-Activating Protein Alpha Subunit 2 3
  • Chromosome 20 Open Reading Frame 74 2
  • Akt Substrate AS250 3
  • EC 2.7.2.11 51
  • BA287B20.1 3
  • EC 5.3.4.1 51
  • DJ1049G11 3
  • RALGAPA2 5

External Ids for RALGAPA2 Gene

Previous HGNC Symbols for RALGAPA2 Gene

  • C20orf74

Previous GeneCards Identifiers for RALGAPA2 Gene

  • GC20M020322

Summaries for RALGAPA2 Gene

GeneCards Summary for RALGAPA2 Gene

RALGAPA2 (Ral GTPase Activating Protein Catalytic Subunit Alpha 2) is a Protein Coding gene. Diseases associated with RALGAPA2 include Ohdo Syndrome, Sbbys Variant and Plantar Fasciitis. Among its related pathways are Vesicle-mediated transport and Translocation of GLUT4 to the plasma membrane. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and GTPase activator activity. An important paralog of this gene is RALGAPA1.

UniProtKB/Swiss-Prot Summary for RALGAPA2 Gene

  • Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RALGAPA2 Gene

Genomics for RALGAPA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RALGAPA2 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
GH20J020709 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas 256.8 +1.1 1053 4.2 CHD2 SP1 MXD4 CEBPA SIX5 NR2C1 MNT ETS1 ZFP64 MBD2 RALGAPA2 LINC00237 lnc-CRNKL1-7 INSM1
GH20J020730 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 20.1 -21.9 -21857 8.6 ZIC2 CEBPB MAX MAFF EP300 RXRA PRDM1 EBF1 ZNF316 PRDM6 HSALNG0129060 RALGAPA2 RF00017-3535 RN7SL607P lnc-RALGAPA2-3 LOC105372555 KIZ
GH20J020742 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 17.9 -31.5 -31463 2.6 FEZF1 CEBPA FOXA2 SAP130 RXRA SPI1 SOX5 ZNF205 POLR2A MYC HSALNG0129065 RPS15AP1 RALGAPA2 XRN2 RPL24P2 RPL12P12 CRNKL1 LOC105372555 HSALNG0129067 KIZ
GH20J020602 Enhancer 1.2 Ensembl ENCODE dbSUPER 16.4 +108.8 108843 2 SP1 BCL11A FEZF1 ZNF610 ZNF639 IRF4 TRIM22 MAFF EBF1 MAX RALGAPA2 INSM1 HSALNG0129058 EIF4E2P1
GH20J020664 Enhancer 0.9 Ensembl ENCODE 18 +45.3 45275 5.3 CEBPA CTCF THAP11 TRIM22 IRF4 EBF1 SMC3 RAD21 CBFB SPI1 RALGAPA2 lnc-CRNKL1-7 lnc-INSM1-6 INSM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RALGAPA2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RALGAPA2

Genomic Locations for RALGAPA2 Gene

Latest Assembly
chr20:20,389,530-20,712,644
(GRCh38/hg38)
Size:
323,115 bases
Orientation:
Minus strand

Previous Assembly
chr20:20,370,174-20,693,287
(GRCh37/hg19 by Entrez Gene)
Size:
323,114 bases
Orientation:
Minus strand

chr20:20,370,196-20,693,131
(GRCh37/hg19 by Ensembl)
Size:
322,936 bases
Orientation:
Minus strand

Genomic View for RALGAPA2 Gene

Genes around RALGAPA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RALGAPA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RALGAPA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RALGAPA2 Gene

Proteins for RALGAPA2 Gene

  • Protein details for RALGAPA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2PPJ7-RGPA2_HUMAN
    Recommended name:
    Ral GTPase-activating protein subunit alpha-2
    Protein Accession:
    Q2PPJ7
    Secondary Accessions:
    • Q4VXU6
    • Q5JUA3
    • Q5JUA4
    • Q5T9K3
    • Q96CX9
    • Q9BQT7
    • Q9H9D9
    • Q9ULE8

    Protein attributes for RALGAPA2 Gene

    Size:
    1873 amino acids
    Molecular mass:
    210770 Da
    Quaternary structure:
    • Component of the heterodimeric RalGAP2 complex with RALGAPB. Heterodimerization is required for activity (By similarity).
    SequenceCaution:
    • Sequence=AAH13749.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB14290.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RALGAPA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RALGAPA2 Gene

Selected DME Specific Peptides for RALGAPA2 Gene

Q2PPJ7:
  • DPKKDVL
  • LRALLDN

Post-translational modifications for RALGAPA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for RALGAPA2 Gene

Gene Families for RALGAPA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RALGAPA2 Gene

InterPro:
Blocks:
  • Rap/ran-GAP
ProtoNet:

Suggested Antigen Peptide Sequences for RALGAPA2 Gene

GenScript: Design optimal peptide antigens:
  • p220 (RGPA2_HUMAN)
genes like me logo Genes that share domains with RALGAPA2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RALGAPA2 Gene

Function for RALGAPA2 Gene

Molecular function for RALGAPA2 Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.

Enzyme Numbers (IUBMB) for RALGAPA2 Gene

Phenotypes From GWAS Catalog for RALGAPA2 Gene

Gene Ontology (GO) - Molecular Function for RALGAPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,ISS --
GO:0005515 protein binding IPI --
GO:0046982 protein heterodimerization activity ISS --
genes like me logo Genes that share ontologies with RALGAPA2: view

Phenotypes for RALGAPA2 Gene

genes like me logo Genes that share phenotypes with RALGAPA2: view

Animal Models for RALGAPA2 Gene

MGI Knock Outs for RALGAPA2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RALGAPA2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RALGAPA2 Gene

Localization for RALGAPA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RALGAPA2 Gene

Cytoplasm.

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 RALGAPA2 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RALGAPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA,IDA 16490346
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with RALGAPA2: view

Pathways & Interactions for RALGAPA2 Gene

genes like me logo Genes that share pathways with RALGAPA2: view

Pathways by source for RALGAPA2 Gene

1 GeneTex pathway for RALGAPA2 Gene

Gene Ontology (GO) - Biological Process for RALGAPA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction IEA --
GO:0090630 activation of GTPase activity ISS --
genes like me logo Genes that share ontologies with RALGAPA2: view

No data available for SIGNOR curated interactions for RALGAPA2 Gene

Drugs & Compounds for RALGAPA2 Gene

(1) Drugs for RALGAPA2 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
RBC8 Pharma 0

(1) ApexBio Compounds for RALGAPA2 Gene

Compound Action Cas Number
RBC8 361185-42-4
genes like me logo Genes that share compounds with RALGAPA2: view

Drug products for research

Transcripts for RALGAPA2 Gene

mRNA/cDNA for RALGAPA2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RALGAPA2

Alternative Splicing Database (ASD) splice patterns (SP) for RALGAPA2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:

ExUns: 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34a · 34b ^ 35a · 35b ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b ^ 39a · 39b ^ 40 ^ 41a · 41b
SP1: - - - - - -
SP2: - -
SP3: - - - -
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:

Relevant External Links for RALGAPA2 Gene

GeneLoc Exon Structure for
RALGAPA2

Expression for RALGAPA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RALGAPA2 Gene

mRNA differential expression in normal tissues according to GTEx for RALGAPA2 Gene

This gene is overexpressed in Whole Blood (x4.0).

Protein differential expression in normal tissues from HIPED for RALGAPA2 Gene

This gene is overexpressed in Heart (17.4), Adrenal (14.9), and Plasma (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RALGAPA2 Gene



Protein tissue co-expression partners for RALGAPA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RALGAPA2

SOURCE GeneReport for Unigene cluster for RALGAPA2 Gene:

Hs.472285

Evidence on tissue expression from TISSUES for RALGAPA2 Gene

  • Liver(4.3)
  • Nervous system(4.2)
  • Lung(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with RALGAPA2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RALGAPA2 Gene

Orthologs for RALGAPA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RALGAPA2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RALGAPA2 30 31
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RALGAPA2 30 31
  • 90.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ralgapa2 30 17 31
  • 88.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ralgapa2 30
  • 87.88 (n)
Cow
(Bos Taurus)
Mammalia RALGAPA2 30 31
  • 84.11 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RALGAPA2 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 82 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
Chicken
(Gallus gallus)
Aves RALGAPA2 30 31
  • 76.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RALGAPA2 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ralgapa2 30
  • 70.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9626 30
Zebrafish
(Danio rerio)
Actinopterygii ralgapa2 30 31
  • 65.77 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4970 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5521 31
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y18H1A.3 31
  • 26 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for RALGAPA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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)

Evolution for RALGAPA2 Gene

ENSEMBL:
Gene Tree for RALGAPA2 (if available)
TreeFam:
Gene Tree for RALGAPA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RALGAPA2: view image

Paralogs for RALGAPA2 Gene

Paralogs for RALGAPA2 Gene

(4) SIMAP similar genes for RALGAPA2 Gene using alignment to 3 proteins:

  • RGPA2_HUMAN
  • H7BZA8_HUMAN
  • H7C1F9_HUMAN

Pseudogenes.org Pseudogenes for RALGAPA2 Gene

genes like me logo Genes that share paralogs with RALGAPA2: view

Variants for RALGAPA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RALGAPA2 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
872200 Uncertain Significance: not provided 20,524,828(-) A/G
NM_020343.4(RALGAPA2):c.3762+2T>C
SPLICE_DONOR
rs117776965 Benign: not provided 20,495,165(-) G/A
NM_020343.4(RALGAPA2):c.5319C>T (p.Tyr1773=)
SYNONYMOUS
rs190129925 Benign: not provided 20,640,817(-) G/A
NM_020343.4(RALGAPA2):c.434C>T (p.Ala145Val)
MISSENSE
rs6137081 - p.Ser492Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RALGAPA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RALGAPA2 Gene

Variant ID Type Subtype PubMed ID
esv2452960 CNV deletion 19546169
esv2722281 CNV deletion 23290073
esv2722282 CNV deletion 23290073
esv2722283 CNV deletion 23290073
esv3372856 CNV insertion 20981092
esv3387244 CNV insertion 20981092
esv3645479 CNV gain 21293372
esv3645482 CNV loss 21293372
nsv1149870 CNV insertion 26484159
nsv180272 CNV insertion 16902084
nsv3323 CNV insertion 18451855
nsv436316 CNV deletion 17901297
nsv477176 CNV novel sequence insertion 20440878
nsv478359 CNV novel sequence insertion 20440878
nsv585704 CNV loss 21841781
nsv828700 CNV loss 20364138

Variation tolerance for RALGAPA2 Gene

Residual Variation Intolerance Score: 33.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.76; 66.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RALGAPA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RALGAPA2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RALGAPA2 Gene

Disorders for RALGAPA2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RALGAPA2 Gene - From: COP

Disorder Aliases PubMed IDs
ohdo syndrome, sbbys variant
  • sbbyss
plantar fasciitis
  • fasciitis, plantar
ohdo syndrome
  • ohdo blepharophimosis syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RALGAPA2

genes like me logo Genes that share disorders with RALGAPA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RALGAPA2 Gene

Publications for RALGAPA2 Gene

  1. Adipocytes contain a novel complex similar to the tuberous sclerosis complex. (PMID: 16490346) Gridley S … Lienhard GE (Cellular signalling 2006) 2 3 4
  2. Tuberous sclerosis tumor suppressor complex-like complexes act as GTPase-activating proteins for Ral GTPases. (PMID: 19520869) Shirakawa R … Horiuchi H (The Journal of biological chemistry 2009) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RALGAPA2 Gene

Sources for RALGAPA2 Gene