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Aliases for RASA2 Gene

Aliases for RASA2 Gene

  • RAS P21 Protein Activator 2 2 3 5
  • GTPase-Activating Protein 1m 3 4
  • GAP1M 3 4
  • GTPase-Activating Protein Of RAS 3
  • RASGAP 4

External Ids for RASA2 Gene

Previous GeneCards Identifiers for RASA2 Gene

  • GC03P138122
  • GC03P142034
  • GC03P142487
  • GC03P142526
  • GC03P142688
  • GC03P141205
  • GC03P138580

Summaries for RASA2 Gene

Entrez Gene Summary for RASA2 Gene

  • The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for RASA2 Gene

RASA2 (RAS P21 Protein Activator 2) is a Protein Coding gene. Diseases associated with RASA2 include neurofibromatosis and cranial nerve malignant neoplasm. Among its related pathways are Signaling by GPCR and Immune System. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is RASAL1.

UniProtKB/Swiss-Prot for RASA2 Gene

  • Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RASA2 Gene

Genomics for RASA2 Gene

Regulatory Elements for RASA2 Gene

Promoters for RASA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RASA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RASA2 Gene

Chromosome:
3
Start:
141,487,047 bp from pter
End:
141,615,363 bp from pter
Size:
128,317 bases
Orientation:
Plus strand

Genomic View for RASA2 Gene

Genes around RASA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASA2 Gene

Proteins for RASA2 Gene

  • Protein details for RASA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15283-RASA2_HUMAN
    Recommended name:
    Ras GTPase-activating protein 2
    Protein Accession:
    Q15283
    Secondary Accessions:
    • A8K7K1
    • G3V0F9
    • O00695
    • Q15284
    • Q92594
    • Q99577
    • Q9UEQ2

    Protein attributes for RASA2 Gene

    Size:
    850 amino acids
    Molecular mass:
    96614 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RASA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASA2 Gene

Proteomics data for RASA2 Gene at MOPED

Post-translational modifications for RASA2 Gene

  • Ubiquitination at Lys 419
  • Modification sites at PhosphoSitePlus

Other Protein References for RASA2 Gene

No data available for DME Specific Peptides for RASA2 Gene

Domains & Families for RASA2 Gene

Suggested Antigen Peptide Sequences for RASA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15283

UniProtKB/Swiss-Prot:

RASA2_HUMAN :
  • Contains 2 C2 domains.
  • Contains 1 Btk-type zinc finger.
Domain:
  • Contains 2 C2 domains.
  • Contains 1 PH domain.
  • Contains 1 Ras-GAP domain.
Similarity:
  • Contains 1 Btk-type zinc finger.
genes like me logo Genes that share domains with RASA2: view

Function for RASA2 Gene

Molecular function for RASA2 Gene

GENATLAS Biochemistry:
RAS-p21 GTPase-activating protein,100 kDa,isoform placenta specific
UniProtKB/Swiss-Prot Function:
Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4).

Gene Ontology (GO) - Molecular Function for RASA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with RASA2: view
genes like me logo Genes that share phenotypes with RASA2: view

Human Phenotype Ontology for RASA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RASA2 Gene

Localization for RASA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RASA2 Gene

Cytoplasm. Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RASA2 Gene COMPARTMENTS Subcellular localization image for RASA2 gene
Compartment Confidence
cytosol 5
plasma membrane 4
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RASA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with RASA2: view

Pathways & Interactions for RASA2 Gene

SuperPathways for RASA2 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Signaling by GPCR
3 Immune System
4 Developmental Biology
5 MAPK signaling pathway
genes like me logo Genes that share pathways with RASA2: view

Gene Ontology (GO) - Biological Process for RASA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0007165 signal transduction IEA,TAS 8699317
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0008286 insulin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with RASA2: view

No data available for SIGNOR curated interactions for RASA2 Gene

Drugs & Compounds for RASA2 Gene

(8) Drugs for RASA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for RASA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RASA2: view

Transcripts for RASA2 Gene

Unigene Clusters for RASA2 Gene

RAS p21 protein activator 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RASA2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: - -
SP2:
SP3:

ExUns: 26a · 26b
SP1:
SP2:
SP3:

Relevant External Links for RASA2 Gene

GeneLoc Exon Structure for
RASA2
ECgene alternative splicing isoforms for
RASA2

Expression for RASA2 Gene

mRNA expression in normal human tissues for RASA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RASA2 Gene

This gene is overexpressed in Lymph node (39.2), Peripheral blood mononuclear cells (8.4), and CD8 Tcells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RASA2 Gene



SOURCE GeneReport for Unigene cluster for RASA2 Gene Hs.655941

genes like me logo Genes that share expression patterns with RASA2: view

Protein tissue co-expression partners for RASA2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RASA2 Gene

Orthologs for RASA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RASA2 35
  • 94.87 (n)
  • 97.36 (a)
RASA2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RASA2 35
  • 95.08 (n)
  • 96.7 (a)
RASA2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rasa2 35
  • 88.43 (n)
  • 89.81 (a)
Rasa2 16
Rasa2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RASA2 35
  • 99.72 (n)
  • 99.76 (a)
RASA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rasa2 35
  • 88.39 (n)
  • 90.05 (a)
oppossum
(Monodelphis domestica)
Mammalia RASA2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASA2 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASA2 35
  • 78.97 (n)
  • 82.52 (a)
RASA2 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASA2 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasa2 35
  • 72.59 (n)
  • 76.76 (a)
Str.3861 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.7413 35
zebrafish
(Danio rerio)
Actinopterygii CABZ01024201.1 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gap1 37
  • 34 (a)
Gap1 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gap-1 37
  • 29 (a)
gap-1 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for RASA2:
  • 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)
  • 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 RASA2 Gene

ENSEMBL:
Gene Tree for RASA2 (if available)
TreeFam:
Gene Tree for RASA2 (if available)

Paralogs for RASA2 Gene

Paralogs for RASA2 Gene

(3) SIMAP similar genes for RASA2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RASA2: view

Variants for RASA2 Gene

Sequence variations from dbSNP and Humsavar for RASA2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1709 -- 141,612,723(-) TTGGA(A/G)TTTTC utr-variant-3-prime
rs15759 -- 141,614,815(+) CCAAA(G/T)AAACT utr-variant-3-prime
rs188414 -- 141,615,778(+) ccttg(G/T)gatct downstream-variant-500B
rs190906 -- 141,615,717(+) tttgt(A/T)ttttt downstream-variant-500B
rs192686 -- 141,615,621(+) cactg(A/C/G)aacct downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for RASA2 Gene

Variant ID Type Subtype PubMed ID
esv2676781 CNV Deletion 23128226
esv271649 CNV Insertion 20981092
esv270683 CNV Insertion 20981092
esv1084666 CNV Deletion 17803354
nsv237170 CNV Loss 16902084

Variation tolerance for RASA2 Gene

Residual Variation Intolerance Score: 4.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.06; 60.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RASA2 Gene

HapMap Linkage Disequilibrium report
RASA2
Human Gene Mutation Database (HGMD)
RASA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASA2 Gene

Disorders for RASA2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RASA2 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neurofibromatosis
  • acoustic neurofibromatosis
cranial nerve malignant neoplasm
  • malignant neoplasm of cranial nerve
kuru
  • kuru encephalopathy
noonan syndrome 1
  • noonan syndrome
olfactory nerve neoplasm
  • neoplasm of olfactory nerve
- elite association - COSMIC cancer census association via MalaCards
Search RASA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RASA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RASA2
genes like me logo Genes that share disorders with RASA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RASA2 Gene

Publications for RASA2 Gene

  1. Distinct subcellular localisations of the putative inositol 1,3,4,5- tetrakisphosphate receptors GAP1(IP4BP) and GAP1m result from the GAP1(IP4BP) PH domain directing plasma membrane targeting. (PMID: 9382842) Lockyer P.J. … Cullen P.J. (Curr. Biol. 1997) 3 4 23 67
  2. [Heterogeneity of GTPase-activating proteins for Ras in the regulation of Ras signal transduction pathway]. (PMID: 8699317) Hattori S. … Baba H. (Yakugaku Zasshi 1996) 2 3 23
  3. The G protein G alpha12 stimulates Bruton's tyrosine kinase and a rasGAP through a conserved PH/BM domain. (PMID: 9796816) Jiang Y. … Huang X.Y. (Nature 1998) 3 23
  4. cDNA cloning and chromosomal mapping of a novel human GAP (GAP1M), a GTPase-activating protein of Ras. (PMID: 8812506) Li S. … Hattori S. (Genomics 1996) 3 23
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for RASA2 Gene

Sources for RASA2 Gene

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