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Aliases for RAP1GAP2 Gene

Aliases for RAP1GAP2 Gene

  • RAP1 GTPase Activating Protein 2 2 3 5
  • GTPase-Activating Rap/Ran-GAP Domain-Like Protein 4 3 4
  • GTPase Activating Rap/RanGAP Domain-Like 4 2 3
  • GTPase Activating RANGAP Domain-Like 4 2 3
  • GARNL4 3 4
  • Rap1 GTPase-Activating Protein 2 3
  • KIAA1039 4
  • Rap1GAP2 4
  • RAP1GA3 3
  • RAP1GA2 4

External Ids for RAP1GAP2 Gene

Previous HGNC Symbols for RAP1GAP2 Gene

  • GARNL4

Previous GeneCards Identifiers for RAP1GAP2 Gene

  • GC17P002646
  • GC17P002680

Summaries for RAP1GAP2 Gene

Entrez Gene Summary for RAP1GAP2 Gene

  • This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for RAP1GAP2 Gene

RAP1GAP2 (RAP1 GTPase Activating Protein 2) is a Protein Coding gene. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is RAP1GAP.

UniProtKB/Swiss-Prot for RAP1GAP2 Gene

  • GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAP1GAP2 Gene

Genomics for RAP1GAP2 Gene

Regulatory Elements for RAP1GAP2 Gene

Enhancers for RAP1GAP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F002851 1.1 Ensembl ENCODE 17.8 +98.1 98110 3.8 ZNF76 KLF17 ZNF2 ZNF335 ZNF121 GLIS2 KLF7 ZNF391 EGR2 ZNF263 RAP1GAP2 METTL16 ENSG00000261916 GC17M002857 GC17M002839
GH17F002390 0.8 FANTOM5 ENCODE 15 -356.7 -356687 18.6 CREB3L1 MLX FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 METTL16 SMYD4 ENSG00000263345 SMG6 MNT EIF4A1P9 SAMD11P1 ENSG00000262869 OR1E3 OR1D2
GH17F003001 1 Ensembl ENCODE 10.1 +247.9 247898 4.8 WRNIP1 SIN3A BRCA1 ZNF2 YY1 GLIS2 ZHX2 REST TBX21 MBD2 OR1D5 OR1D2 OR1E3 OR1D3P OR3A4P SAMD11P1 EIF4A1P9 OR1E2 ENSG00000262869 RAP1GAP2
GH17F002958 0.9 FANTOM5 Ensembl ENCODE 9.9 +204.7 204746 3.0 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF48 GLIS2 FOS SP5 MXD4 SGSM2 RAP1GAP2 ENSG00000263345 ENSG00000263050 OR3A2 OR1G1 LOC101927911 GC17P002937
GH17F003010 0.2 ENCODE 9.5 +255.7 255712 1.4 SREBF1 RAP1GAP2 GC17P003033 GC17M002981
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RAP1GAP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAP1GAP2 Gene

Chromosome:
17
Start:
2,755,698 bp from pter
End:
3,037,741 bp from pter
Size:
282,044 bases
Orientation:
Plus strand

Genomic View for RAP1GAP2 Gene

Genes around RAP1GAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAP1GAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAP1GAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAP1GAP2 Gene

Proteins for RAP1GAP2 Gene

  • Protein details for RAP1GAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q684P5-RPGP2_HUMAN
    Recommended name:
    Rap1 GTPase-activating protein 2
    Protein Accession:
    Q684P5
    Secondary Accessions:
    • B2RTY5
    • Q684P4
    • Q6AI00
    • Q6ZVF0
    • Q9UPW2

    Protein attributes for RAP1GAP2 Gene

    Size:
    730 amino acids
    Molecular mass:
    80056 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RAP1GAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAP1GAP2 Gene

Post-translational modifications for RAP1GAP2 Gene

  • In vitro phosphorylated by cGMP-dependent protein kinase 1 (cGKI) at Ser-7; the phosphorylation probably does not regulate GAP activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAP1GAP2 Gene

Domains & Families for RAP1GAP2 Gene

Protein Domains for RAP1GAP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RAP1GAP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q684P5

UniProtKB/Swiss-Prot:

RPGP2_HUMAN :
  • Contains 1 Rap-GAP domain.
Domain:
  • Contains 1 Rap-GAP domain.
genes like me logo Genes that share domains with RAP1GAP2: view

No data available for Gene Families for RAP1GAP2 Gene

Function for RAP1GAP2 Gene

Molecular function for RAP1GAP2 Gene

UniProtKB/Swiss-Prot Function:
GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.

Gene Ontology (GO) - Molecular Function for RAP1GAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity EXP 16076873
GO:0005515 protein binding IPI 24284068
genes like me logo Genes that share ontologies with RAP1GAP2: view

Phenotypes for RAP1GAP2 Gene

MGI mutant phenotypes for RAP1GAP2:
inferred from 1 alleles
GenomeRNAi human phenotypes for RAP1GAP2:
genes like me logo Genes that share phenotypes with RAP1GAP2: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAP1GAP2 Gene

Localization for RAP1GAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAP1GAP2 Gene

Cytoplasm. Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAP1GAP2 Gene COMPARTMENTS Subcellular localization image for RAP1GAP2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for RAP1GAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005813 centrosome IDA 21399614
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IGI 24284068
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with RAP1GAP2: view

Pathways & Interactions for RAP1GAP2 Gene

genes like me logo Genes that share pathways with RAP1GAP2: view

Pathways by source for RAP1GAP2 Gene

3 Reactome pathways for RAP1GAP2 Gene

Interacting Proteins for RAP1GAP2 Gene

Gene Ontology (GO) - Biological Process for RAP1GAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008361 regulation of cell size IMP 24284068
GO:0010977 negative regulation of neuron projection development IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction IEA --
genes like me logo Genes that share ontologies with RAP1GAP2: view

No data available for SIGNOR curated interactions for RAP1GAP2 Gene

Transcripts for RAP1GAP2 Gene

Unigene Clusters for RAP1GAP2 Gene

RAP1 GTPase activating protein 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAP1GAP2 Gene

No ASD Table

Relevant External Links for RAP1GAP2 Gene

GeneLoc Exon Structure for
RAP1GAP2
ECgene alternative splicing isoforms for
RAP1GAP2

Expression for RAP1GAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAP1GAP2 Gene

Protein differential expression in normal tissues from HIPED for RAP1GAP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (21.5) and Platelet (18.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAP1GAP2 Gene



Protein tissue co-expression partners for RAP1GAP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RAP1GAP2 Gene:

RAP1GAP2

SOURCE GeneReport for Unigene cluster for RAP1GAP2 Gene:

Hs.499659

mRNA Expression by UniProt/SwissProt for RAP1GAP2 Gene:

Q684P5-RPGP2_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed in platelets with isoform 2 being the predominant form. Expressed in lymphocytes, heart, testis and pancreas.
genes like me logo Genes that share expression patterns with RAP1GAP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RAP1GAP2 Gene

Orthologs for RAP1GAP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAP1GAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAP1GAP2 34 35
  • 97.95 (n)
cow
(Bos Taurus)
Mammalia RAP1GAP2 34 35
  • 91.14 (n)
dog
(Canis familiaris)
Mammalia RAP1GAP2 34 35
  • 90.4 (n)
mouse
(Mus musculus)
Mammalia Rap1gap2 34 16 35
  • 89.55 (n)
rat
(Rattus norvegicus)
Mammalia Rap1gap2 34
  • 88.24 (n)
oppossum
(Monodelphis domestica)
Mammalia RAP1GAP2 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAP1GAP2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAP1GAP2 34 35
  • 81.12 (n)
lizard
(Anolis carolinensis)
Reptilia RAP1GAP2 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495015 34
  • 72.1 (n)
zebrafish
(Danio rerio)
Actinopterygii rap1gap2a 35
  • 70 (a)
OneToMany
rap1gap2b 34 35
  • 66.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rapgap1 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F53A10.2 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
Species where no ortholog for RAP1GAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 RAP1GAP2 Gene

ENSEMBL:
Gene Tree for RAP1GAP2 (if available)
TreeFam:
Gene Tree for RAP1GAP2 (if available)

Paralogs for RAP1GAP2 Gene

Paralogs for RAP1GAP2 Gene

(1) SIMAP similar genes for RAP1GAP2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RAP1GAP2: view

Variants for RAP1GAP2 Gene

Sequence variations from dbSNP and Humsavar for RAP1GAP2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10153249 -- 2,944,063(+) agaat(C/T)gcttg intron-variant
rs1017534 -- 2,970,884(+) AAAAA(A/T)ATTAG intron-variant
rs1017535 -- 2,971,165(+) TTTCA(A/G)AGAGC intron-variant
rs1036911 -- 2,925,471(-) TCTGA(C/T)GGGTT intron-variant
rs1036912 -- 2,925,405(-) GGCAC(A/T)TGCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAP1GAP2 Gene

Variant ID Type Subtype PubMed ID
dgv1405n106 CNV deletion 24896259
dgv402e201 CNV deletion 23290073
dgv403e201 CNV deletion 23290073
dgv404e201 CNV deletion 23290073
dgv524e199 CNV deletion 23128226
dgv69n73 CNV deletion 24416366
esv1118636 CNV deletion 17803354
esv1294904 CNV insertion 17803354
esv1353865 CNV insertion 17803354
esv1684182 CNV deletion 17803354
esv1759238 CNV deletion 17803354
esv2072081 CNV deletion 18987734
esv2425553 CNV deletion 19546169
esv24712 CNV loss 19812545
esv2573108 CNV deletion 19546169
esv2627871 CNV insertion 19546169
esv2659929 CNV deletion 23128226
esv2660206 CNV deletion 23128226
esv2661610 CNV deletion 23128226
esv2664485 CNV deletion 23128226
esv2674855 CNV deletion 23128226
esv2677834 CNV deletion 23128226
esv2715508 CNV deletion 23290073
esv2715510 CNV deletion 23290073
esv2715511 CNV deletion 23290073
esv2715513 CNV deletion 23290073
esv2715515 CNV deletion 23290073
esv2715517 CNV deletion 23290073
esv2715520 CNV deletion 23290073
esv2715521 CNV deletion 23290073
esv2715522 CNV deletion 23290073
esv2715523 CNV deletion 23290073
esv2715524 CNV deletion 23290073
esv2715525 CNV deletion 23290073
esv2740912 CNV deletion 23290073
esv2742768 CNV deletion 23290073
esv29841 CNV gain 19812545
esv3429880 CNV insertion 20981092
esv3554008 CNV deletion 23714750
esv3582487 CNV loss 25503493
esv3639722 CNV loss 21293372
esv3639723 CNV loss 21293372
esv3639724 CNV loss 21293372
esv3639726 CNV loss 21293372
esv3639727 CNV loss 21293372
esv3639728 CNV loss 21293372
esv3639729 CNV loss 21293372
esv3639730 CNV loss 21293372
esv3639731 CNV loss 21293372
esv3639732 CNV loss 21293372
esv994444 CNV deletion 20482838
nsv1057894 CNV gain 25217958
nsv1065489 CNV gain 25217958
nsv1065764 CNV gain 25217958
nsv1070795 CNV deletion 25765185
nsv1071362 CNV deletion 25765185
nsv112042 CNV deletion 16902084
nsv1130702 CNV deletion 24896259
nsv472336 CNV novel sequence insertion 20440878
nsv472505 CNV novel sequence insertion 20440878
nsv475761 CNV novel sequence insertion 20440878
nsv478918 CNV novel sequence insertion 20440878
nsv512470 CNV loss 21212237
nsv574226 CNV loss 21841781
nsv574227 CNV loss 21841781
nsv574228 CNV loss 21841781
nsv7288 OTHER inversion 18451855
nsv821347 CNV deletion 20802225
nsv821474 CNV duplication 20802225

Variation tolerance for RAP1GAP2 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.49; 91.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAP1GAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAP1GAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAP1GAP2 Gene

Disorders for RAP1GAP2 Gene

Relevant External Links for RAP1GAP2

Genetic Association Database (GAD)
RAP1GAP2
Human Genome Epidemiology (HuGE) Navigator
RAP1GAP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAP1GAP2

No disorders were found for RAP1GAP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAP1GAP2 Gene

Publications for RAP1GAP2 Gene

  1. Rap1GAP2 is a new GTPase-activating protein of Rap1 expressed in human platelets. (PMID: 15632203) Schultess J. … Smolenski A.P. (Blood 2005) 2 3 4 64
  2. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat B.E. … Tseng Z.H. (BMC Cardiovasc Disord 2011) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 3 4 64
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64

Products for RAP1GAP2 Gene

Sources for RAP1GAP2 Gene

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