This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSe... See more...

Aliases for RASA3 Gene

Aliases for RASA3 Gene

  • RAS P21 Protein Activator 3 2 3 5
  • Ras GTPase-Activating Protein 3 3 4
  • Ins P4-Binding Protein 3 4
  • GTPase-Activating Protein 1 Family, Inositol 1,3,4,5-Tetrakisphosphate-Binding Protein 3
  • Ins(1,3,4,5)P4-Binding Protein 3
  • GTPase Activating Protein III 3
  • GAP1(IP4BP) 4
  • GAP1IP4BP 3
  • GAPIII 3

External Ids for RASA3 Gene

Previous GeneCards Identifiers for RASA3 Gene

  • GC13M110946
  • GC13M113779
  • GC13M112665
  • GC13M113765
  • GC13M114747
  • GC13M095016

Summaries for RASA3 Gene

Entrez Gene Summary for RASA3 Gene

  • This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for RASA3 Gene

RASA3 (RAS P21 Protein Activator 3) is a Protein Coding gene. Diseases associated with RASA3 include Paralytic Poliomyelitis and Poliomyelitis. Among its related pathways are RET signaling and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and calcium-release channel activity. An important paralog of this gene is RASA2.

UniProtKB/Swiss-Prot Summary for RASA3 Gene

  • Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor.

Gene Wiki entry for RASA3 Gene

Additional gene information for RASA3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RASA3 Gene

Genomics for RASA3 Gene

GeneHancer (GH) Regulatory Elements for RASA3 Gene

Promoters and enhancers for RASA3 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
GH13J114126 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 515.1 +1.9 1929 8.9 ZBTB40 SIN3A NRF1 TEAD4 FOS ZNF639 ZBTB5 ZIC2 ZBTB10 ZBTB11 GAS6 RASA3 CDC16 PCID2 CHAMP1 GAS6-AS1 UPF3A LINC00565 piR-60534
GH13J114104 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 27 +23.6 23607 9.3 EP300 JUND FOS ZIC2 REST ZBTB10 CTCF MXI1 CREB1 POLR2A RASA3-IT1 piR-32236 RASA3 UPF3A CDC16 HSALNG0099649 piR-46139
GH13J114031 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 27.7 +96.9 96906 8.7 ZFX ZIC2 ZBTB10 NR2F2 CREB1 ZBTB17 ESR1 CEBPB MAFK PKNOX1 RASA3 CDC16 LINC00452 LINC00565 UPF3A piR-44178 C13orf46
GH13J114004 Enhancer 1.2 Ensembl ENCODE dbSUPER 27.9 +127.5 127522 2.2 AFF1 HES1 TOE1 MYC CTBP1 JUN TAF9B HDAC3 LEF1 NCOR1 RASA3 LINC00452 C13orf46 piR-44178
GH13J114096 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 24.4 +32.5 32469 6.4 JUND FOS ZIC2 ZBTB10 ZNF423 MXI1 NFIC SP2 SMARCC1 POLR2A RASA3 CDC16 UPF3A piR-46139 piR-33359-016
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RASA3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RASA3

Top Transcription factor binding sites by QIAGEN in the RASA3 gene promoter:
  • ATF-2
  • c-Jun
  • c-Myb
  • FOXO3
  • FOXO3a
  • FOXO3b
  • Nkx5-1
  • Pax-4a
  • RSRFC4
  • Sp1

Genomic Locations for RASA3 Gene

Genomic Locations for RASA3 Gene
chr13:113,977,783-114,132,623
(GRCh38/hg38)
Size:
154,841 bases
Orientation:
Minus strand
chr13:114,747,194-114,898,095
(GRCh37/hg19)
Size:
150,902 bases
Orientation:
Minus strand

Genomic View for RASA3 Gene

Genes around RASA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RASA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RASA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RASA3 Gene

Proteins for RASA3 Gene

  • Protein details for RASA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14644-RASA3_HUMAN
    Recommended name:
    Ras GTPase-activating protein 3
    Protein Accession:
    Q14644
    Secondary Accessions:
    • A6NL15
    • F8W6X8
    • Q8IUY2

    Protein attributes for RASA3 Gene

    Size:
    834 amino acids
    Molecular mass:
    95699 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RASA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RASA3 Gene

Post-translational modifications for RASA3 Gene

  • Ubiquitination at Lys641
  • Modification sites at PhosphoSitePlus

Other Protein References for RASA3 Gene

No data available for DME Specific Peptides for RASA3 Gene

Domains & Families for RASA3 Gene

Gene Families for RASA3 Gene

Protein Domains for RASA3 Gene

Blocks:
  • C2 domain
  • Pleckstrin-like
  • Tec/Btk domain signature
  • Ras GTPase-activating protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RASA3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57942, highly similar to Ras GTPase-activating protein 3 (B7Z3G9_HUMAN)
  • Ins P4-binding protein (RASA3_HUMAN)
genes like me logo Genes that share domains with RASA3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RASA3 Gene

Function for RASA3 Gene

Molecular function for RASA3 Gene

UniProtKB/Swiss-Prot Function:
Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4) with high affinity. Might be a specific IP4 receptor.

Phenotypes From GWAS Catalog for RASA3 Gene

Gene Ontology (GO) - Molecular Function for RASA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS,IEA --
GO:0015278 calcium-release channel activity IDA 10828023
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RASA3: view
genes like me logo Genes that share phenotypes with RASA3: view

Animal Models for RASA3 Gene

MGI Knock Outs for RASA3:

Animal Model Products

CRISPR Products

miRNA for RASA3 Gene

miRTarBase miRNAs that target RASA3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASA3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RASA3 Gene

Localization for RASA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RASA3 Gene

Cell membrane.

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 RASA3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RASA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane IDA 10828023
genes like me logo Genes that share ontologies with RASA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RASA3 Gene

Pathways & Interactions for RASA3 Gene

PathCards logo

SuperPathways for RASA3 Gene

SuperPathway Contained pathways
1 RET signaling
2 Developmental Biology
3 Cytokine Signaling in Immune system
4 HIV Life Cycle
.45
5 Innate Immune System
genes like me logo Genes that share pathways with RASA3: view

Pathways by source for RASA3 Gene

1 BioSystems pathway for RASA3 Gene
1 KEGG pathway for RASA3 Gene
3 GeneGo (Thomson Reuters) pathways for RASA3 Gene
  • G-protein signaling_H-RAS regulation pathway
  • G-protein signaling_Rap1A regulation pathway
  • G-protein signaling_Rap1B regulation pathway

Gene Ontology (GO) - Biological Process for RASA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007165 signal transduction TAS 7637787
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 RASA3: view

No data available for SIGNOR curated interactions for RASA3 Gene

Drugs & Compounds for RASA3 Gene

(4) Drugs for RASA3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for RASA3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RASA3: view

Transcripts for RASA3 Gene

mRNA/cDNA for RASA3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RASA3

Alternative Splicing Database (ASD) splice patterns (SP) for RASA3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^
SP1: - - - -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:

ExUns: 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c · 25d ^ 26a · 26b ^ 27a · 27b
SP1: - - -
SP2: - - -
SP3:
SP4: - -
SP5: -
SP6:
SP7: - -
SP8:
SP9:

Relevant External Links for RASA3 Gene

GeneLoc Exon Structure for
RASA3

Expression for RASA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RASA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RASA3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (38.9) and Platelet (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RASA3 Gene



Protein tissue co-expression partners for RASA3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RASA3

SOURCE GeneReport for Unigene cluster for RASA3 Gene:

Hs.593075

Evidence on tissue expression from TISSUES for RASA3 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Blood(4.4)
  • Lung(2.8)
  • Pancreas(2.2)
genes like me logo Genes that share expression patterns with RASA3: 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 RASA3 Gene

Orthologs for RASA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for RASA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RASA3 31 30
  • 99.08 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RASA3 31
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RASA3 31
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RASA3 31 30
  • 88.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RASA3 31 30
  • 87.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rasa3 17 31 30
  • 87.05 (n)
rat
(Rattus norvegicus)
Mammalia Rasa3 30
  • 85.85 (n)
chicken
(Gallus gallus)
Aves RASA3 31 30
  • 79.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RASA3 31
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rasa3 30
  • 76.63 (n)
zebrafish
(Danio rerio)
Actinopterygii rasa3 31 30
  • 76.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002261 30
  • 55 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gap1 31 30
  • 52.42 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gap-1 31 30
  • 41.48 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Species where no ortholog for RASA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 RASA3 Gene

ENSEMBL:
Gene Tree for RASA3 (if available)
TreeFam:
Gene Tree for RASA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RASA3: view image

Paralogs for RASA3 Gene

(4) SIMAP similar genes for RASA3 Gene using alignment to 3 proteins:

  • RASA3_HUMAN
  • B7Z3G9_HUMAN
  • F8W6X8_HUMAN
genes like me logo Genes that share paralogs with RASA3: view

Variants for RASA3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RASA3 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
713003 Benign: not provided 113,979,413(-) G/A SYNONYMOUS_VARIANT
713004 Benign: not provided 114,007,583(-) C/G SYNONYMOUS_VARIANT
786244 Benign: not provided 114,015,306(-) G/A SYNONYMOUS_VARIANT
rs1566529937 Likely Pathogenic: Short stature 114,052,075(-) A/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs746040003 Pathogenic: Short stature 114,018,809(-) TAGTC/T FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for RASA3 Gene

Structural Variations from Database of Genomic Variants (DGV) for RASA3 Gene

Variant ID Type Subtype PubMed ID
dgv1047n106 CNV deletion 24896259
dgv1048n106 CNV deletion 24896259
dgv1137e59 CNV duplication 20981092
dgv121n21 CNV loss 19592680
dgv1745n100 CNV gain 25217958
dgv3458n54 CNV loss 21841781
dgv3459n54 CNV loss 21841781
dgv3460n54 CNV loss 21841781
dgv3461n54 CNV gain+loss 21841781
dgv3462n54 CNV loss 21841781
dgv3463n54 CNV loss 21841781
dgv3e22 CNV deletion 17803354
dgv587e212 CNV loss 25503493
esv1009187 CNV loss 20482838
esv1010513 CNV deletion 20482838
esv1025672 CNV deletion 17803354
esv1066402 CNV deletion 17803354
esv1142582 CNV deletion 17803354
esv1152044 CNV deletion 17803354
esv1184420 CNV deletion 17803354
esv1443105 CNV deletion 17803354
esv1462897 CNV insertion 17803354
esv1482832 CNV deletion 17803354
esv1576861 CNV deletion 17803354
esv1593867 CNV deletion 17803354
esv1621942 CNV insertion 17803354
esv1636109 CNV deletion 17803354
esv1711123 CNV deletion 17803354
esv1716683 CNV deletion 17803354
esv1789942 CNV deletion 17803354
esv1949106 CNV deletion 18987734
esv1954876 CNV deletion 18987734
esv2098450 CNV deletion 18987734
esv2106399 CNV deletion 18987734
esv2106853 CNV deletion 18987734
esv2168491 CNV deletion 18987734
esv22933 CNV gain 19812545
esv2338969 CNV deletion 18987734
esv24032 CNV gain+loss 19812545
esv24173 CNV gain+loss 19812545
esv24269 CNV loss 19812545
esv2544651 CNV deletion 19546169
esv2607681 CNV deletion 19546169
esv2658972 CNV deletion 23128226
esv2662327 CNV deletion 23128226
esv2664744 CNV deletion 23128226
esv2666523 CNV deletion 23128226
esv2670849 CNV deletion 23128226
esv2671257 CNV deletion 23128226
esv2674574 CNV deletion 23128226
esv2677949 CNV deletion 23128226
esv2678799 CNV deletion 23128226
esv27815 CNV loss 19812545
esv29166 CNV loss 19812545
esv3048 CNV loss 18987735
esv3179848 CNV deletion 24192839
esv3179850 CNV deletion 24192839
esv3332008 CNV duplication 20981092
esv3350776 CNV insertion 20981092
esv3376877 CNV insertion 20981092
esv3380603 CNV duplication 20981092
esv3388676 CNV duplication 20981092
esv3393906 CNV duplication 20981092
esv3403768 CNV insertion 20981092
esv3511 CNV loss 18987735
esv3551176 CNV deletion 23714750
esv3551179 CNV deletion 23714750
esv3551181 CNV deletion 23714750
esv3551183 CNV deletion 23714750
esv3551185 CNV deletion 23714750
esv3633629 CNV gain 21293372
esv3633630 CNV loss 21293372
esv3633631 CNV gain 21293372
esv3633632 CNV loss 21293372
esv3633633 CNV loss 21293372
esv3633634 CNV gain 21293372
esv3633635 CNV gain 21293372
esv3633636 CNV loss 21293372
esv3633637 CNV gain 21293372
esv3633639 CNV loss 21293372
esv3892449 CNV loss 25118596
esv6719 CNV loss 19470904
esv995537 CNV deletion 20482838
esv997265 CNV deletion 20482838
nsv1050622 CNV gain 25217958
nsv1070205 CNV deletion 25765185
nsv1070206 CNV deletion 25765185
nsv1070625 CNV deletion 25765185
nsv1071132 CNV deletion 25765185
nsv1071133 CNV deletion 25765185
nsv1071134 CNV deletion 25765185
nsv1075453 CNV duplication 25765185
nsv1113617 CNV deletion 24896259
nsv1122875 CNV deletion 24896259
nsv1124677 CNV duplication 24896259
nsv1124949 CNV deletion 24896259
nsv1126357 CNV deletion 24896259
nsv1133203 CNV tandem duplication 24896259
nsv1133204 CNV tandem duplication 24896259
nsv1135807 CNV deletion 24896259
nsv1136176 CNV deletion 24896259
nsv1138278 CNV deletion 24896259
nsv1138279 CNV deletion 24896259
nsv1138280 CNV deletion 24896259
nsv1139879 CNV deletion 24896259
nsv1143744 CNV deletion 24896259
nsv1143746 CNV deletion 24896259
nsv1143747 CNV deletion 24896259
nsv1147987 CNV deletion 26484159
nsv1149361 CNV deletion 26484159
nsv1160150 CNV duplication 26073780
nsv1196 CNV insertion 18451855
nsv438258 CNV loss 16468122
nsv471177 CNV loss 18288195
nsv512345 CNV loss 21212237
nsv512346 CNV loss 21212237
nsv518916 CNV loss 19592680
nsv524968 CNV loss 19592680
nsv563428 CNV loss 21841781
nsv563430 CNV gain 21841781
nsv563435 CNV loss 21841781
nsv563436 CNV loss 21841781
nsv563439 CNV gain 21841781
nsv563448 CNV loss 21841781
nsv563449 CNV loss 21841781
nsv64415 CNV deletion 16902084
nsv64423 CNV deletion 16902084
nsv64635 CNV deletion 16902084
nsv64982 CNV deletion 16902084
nsv821504 CNV deletion 20802225
nsv826839 CNV loss 20364138
nsv951936 CNV deletion 24416366
nsv951937 CNV deletion 24416366
nsv951938 CNV deletion 24416366
nsv957447 CNV deletion 24416366

Variation tolerance for RASA3 Gene

Residual Variation Intolerance Score: 3.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RASA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RASA3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RASA3 Gene

Disorders for RASA3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RASA3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
paralytic poliomyelitis
  • poliomyelitis, paralytic
poliomyelitis
  • infantile paralysis
omsk hemorrhagic fever
  • ohf
- elite association - COSMIC cancer census association via MalaCards
Search RASA3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RASA3

genes like me logo Genes that share disorders with RASA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RASA3 Gene

Publications for RASA3 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) 2 3 4 23 54
  2. Identification of a specific Ins(1,3,4,5)P4-binding protein as a member of the GAP1 family. (PMID: 7637787) Cullen PJ … Irvine RF (Nature 1995) 2 3 4 54
  3. The ability of GAP1IP4BP to function as a Rap1 GTPase-activating protein (GAP) requires its Ras GAP-related domain and an arginine finger rather than an asparagine thumb. (PMID: 19433443) Kupzig S … Cullen PJ (Molecular and cellular biology 2009) 3 23 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Analyzing the role of the putative inositol 1,3,4,5-tetrakisphosphate receptor GAP1IP4BP in intracellular Ca2+ homeostasis. (PMID: 12356770) Walker SA … Cullen PJ (The Journal of biological chemistry 2002) 3 23 54

Products for RASA3 Gene

Sources for RASA3 Gene