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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
  • Ras GTPase-Activating Protein 2 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 Noonan Syndrome 1 and Neurofibromatosis, Type Iv, Of Riccardi. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is RASA3.

UniProtKB/Swiss-Prot for RASA2 Gene

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

Additional gene information for RASA2 Gene

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

Genomics for RASA2 Gene

GeneHancer (GH) Regulatory Elements for RASA2 Gene

Promoters and enhancers for RASA2 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
GH03I141484 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 561.6 +1.0 1046 6.4 PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B SP3 SMARCA4 GLIS1 NR2C1 RASA2 XRN1 ZBTB38 RASA2-IT1
GH03I141364 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 32.7 -119.1 -119111 7.1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 NFYC MEF2D GLIS1 RCOR2 ENSG00000249417 RASA2 GK5 ZBTB38 YWHAQP6 KRT18P35 PXYLP1
GH03I141874 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 18.9 +390.1 390099 4.7 SMAD1 ARID4B SIN3A YY1 POLR2B E2F8 ZNF143 KLF13 SP5 MXD4 ATP1B3 XRN1 RASA2 ATR GK5 GC03P141887
GH03I141736 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 14.5 +252.9 252895 6 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 POLR2B ZNF766 RNF7 RASA2 ATP1B3 ATP1B3-AS1 GRK7 RNU6-509P ATR
GH03I141382 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.1 -100.6 -100573 7.7 PKNOX1 FOXA2 SMAD1 FEZF1 ZNF766 ZNF213 ATF7 RUNX3 ATF4 MAFF ZBTB38 RASA2 PXYLP1 YWHAQP6 ENSG00000249417 KRT18P35
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RASA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RASA2 gene promoter:

Genomic Locations for RASA2 Gene

Genomic Locations for RASA2 Gene
chr3:141,487,047-141,615,363
(GRCh38/hg38)
Size:
128,317 bases
Orientation:
Plus strand
chr3:141,205,889-141,334,184
(GRCh37/hg19)

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

Post-translational modifications for RASA2 Gene

  • Ubiquitination at Lys419
  • Modification sites at PhosphoSitePlus

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

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

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

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).

Phenotypes From GWAS Catalog for RASA2 Gene

Gene Ontology (GO) - Molecular Function for RASA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA,IEA --
GO:0046872 metal ion binding 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

Clone Products

  • Addgene plasmids for RASA2

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
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 RASA2 gene
Compartment Confidence
cytosol 5
plasma membrane 4
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RASA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane IBA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with RASA2: view

Pathways & Interactions for RASA2 Gene

SuperPathways for RASA2 Gene

SuperPathway Contained pathways
1 RET signaling
2 MAPK signaling pathway
3 Developmental Biology
4 Cytokine Signaling in Immune system
5 HIV Life Cycle
.45
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:0007165 signal transduction TAS,IEA 8699317
GO:0035556 intracellular signal transduction IEA --
GO:0043087 regulation of GTPase activity IEA --
GO:0043547 positive regulation of GTPase activity IEA --
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:

Clone Products

  • Addgene plasmids for RASA2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for RASA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RASA2 Gene:

RASA2

SOURCE GeneReport for Unigene cluster for RASA2 Gene:

Hs.655941

Evidence on tissue expression from TISSUES for RASA2 Gene

  • Spleen(4.3)
  • Nervous system(4.3)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RASA2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • aorta
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • liver
  • spleen
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RASA2: view

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
chimpanzee
(Pan troglodytes)
Mammalia RASA2 33 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia RASA2 33 34
  • 95.08 (n)
cow
(Bos Taurus)
Mammalia RASA2 33 34
  • 94.87 (n)
mouse
(Mus musculus)
Mammalia Rasa2 33 16 34
  • 88.43 (n)
rat
(Rattus norvegicus)
Mammalia Rasa2 33
  • 88.39 (n)
oppossum
(Monodelphis domestica)
Mammalia RASA2 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASA2 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RASA2 33 34
  • 78.97 (n)
lizard
(Anolis carolinensis)
Reptilia RASA2 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasa2 33
  • 72.59 (n)
Str.3861 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7413 33
zebrafish
(Danio rerio)
Actinopterygii CABZ01024201.1 34
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gap1 35 34
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea gap-1 35 34
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
Species where no ortholog for RASA2 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)
  • 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 Variation AA Info Type
rs201352230 uncertain-significance, not specified 141,487,100(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs879255395 uncertain-significance, not specified 141,559,949(+) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs143035190 benign, not specified 141,580,380(+) A/G 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000011787 -- 141,515,254(+) AAAAAAAAA/AAAAAAAA intron_variant
rs1000022896 -- 141,502,227(+) G/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv1084666 CNV deletion 17803354
esv2676781 CNV deletion 23128226
esv3307375 CNV mobile element insertion 20981092
esv3365382 CNV insertion 20981092
esv3401154 CNV insertion 20981092
esv3597979 CNV loss 21293372
nsv1006237 CNV loss 25217958
nsv1014365 CNV loss 25217958
nsv1072717 CNV deletion 25765185
nsv1114430 CNV deletion 24896259
nsv1131733 CNV deletion 24896259
nsv1145004 CNV deletion 24896259
nsv237170 CNV deletion 16902084
nsv955358 CNV duplication 24416366
nsv955359 CNV duplication 24416366
nsv979884 CNV duplication 23825009
nsv979885 CNV duplication 23825009

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)

Additional Variant Information for RASA2 Gene

Human Gene Mutation Database (HGMD)
RASA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASA2

SNP Genotyping and Copy Number Assay Products

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

Disorders for RASA2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
noonan syndrome 1
  • ns1
neurofibromatosis, type iv, of riccardi
  • nf4
kuru
  • kuru, susceptibility to
cranial nerve malignant neoplasm
  • malignant neoplasm of cranial nerve
neurofibromatosis, type i
  • nf1
- elite association - COSMIC cancer census association via MalaCards
Search RASA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 GAP1IP4BP and GAP1m result from the GAP1IP4BP PH domain directing plasma membrane targeting. (PMID: 9382842) Lockyer PJ … Cullen PJ (Current biology : CB 1997) 3 4 22 58
  2. [Heterogeneity of GTPase-activating proteins for Ras in the regulation of Ras signal transduction pathway]. (PMID: 8699317) Hattori S … Baba H (Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan 1996) 2 3 22 58
  3. 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 4 22 58
  4. The G protein G alpha12 stimulates Bruton's tyrosine kinase and a rasGAP through a conserved PH/BM domain. (PMID: 9796816) Jiang Y … Huang XY (Nature 1998) 3 22 58
  5. Human rasGTPase-activating protein (human counterpart of GAP1m): sequence of the cDNA, primary structure of the protein, production and chromosomal localization. (PMID: 8917095) Kobayashi M … Iwashita S (Gene 1996) 3 4 58

Products for RASA2 Gene

  • Addgene plasmids for RASA2

Sources for RASA2 Gene

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