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... See more...

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
  • Rap1 GTPase-Activating Protein 2 3 4
  • GARNL4 3 4
  • 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 Rap1 signalling and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is RAP1GAP.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for RAP1GAP2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAP1GAP2 Gene

Genomics for RAP1GAP2 Gene

GeneHancer (GH) Regulatory Elements for RAP1GAP2 Gene

Promoters and enhancers for RAP1GAP2 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
GH17J002755 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 750.6 +0.2 210 1.8 SREBF1 ZNF280D SP7 ZSCAN21 PRDM1 GLIS2 ZIC2 ZBTB8A PRDM10 ZEB2 RAP1GAP2 NONHSAG020528.2 CLUH ENSG00000108958 RF00017-2226
GH17J002795 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 750.3 +40.8 40803 3 MAX ZSCAN4 MNT POLR2A CTCF RAP1GAP2 lnc-CLUH-4 piR-57460-261
GH17J002389 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15 -356.7 -356686 18.6 ZNF785 SIN3A ZNF24 ZBTB40 SP1 CTCF ZBTB6 MLX SMARCE1 POLR2A MNT RF00457 PRPF8 SMYD4 METTL16 WDR81 HNRNPA1P16 SMG6 RN7SL608P ENSG00000263345
GH17J002853 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 17.8 +98.4 98390 2.9 PRDM1 ZBTB8A PRDM10 ZEB2 SP2 ZFX ZBTB20 EZH2 ZBTB48 ZBTB17 RAP1GAP2 METTL16 piR-43105-253 piR-57539-001
GH17J002954 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10 +202.6 202603 7.8 SIN3A SREBF1 MLX RBPJ USF2 NR2F6 CREB1 HDGF MNT RERE RAP1GAP2 OR3A2 OR1G1 LOC101927911 piR-59425-015
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAP1GAP2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RAP1GAP2 Gene

Genomic Locations for RAP1GAP2 Gene
chr17:2,755,698-3,037,741
(GRCh38/hg38)
Size:
282,044 bases
Orientation:
Plus strand
chr17:2,680,350-2,941,035
(GRCh37/hg19)
Size:
260,686 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

Gene Families for RAP1GAP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAP1GAP2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAP1GAP2 Gene

GenScript: Design optimal peptide antigens:
  • GTPase-activating Rap/Ran-GAP domain-like protein 4 (RPGP2_HUMAN)
genes like me logo Genes that share domains with RAP1GAP2: view

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

Phenotypes From GWAS Catalog for RAP1GAP2 Gene

Gene Ontology (GO) - Molecular Function for RAP1GAP2 Gene

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

Animal Models for RAP1GAP2 Gene

MGI Knock Outs for RAP1GAP2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 RAP1GAP2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
plasma membrane 3

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for RAP1GAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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

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

Drugs & Compounds for RAP1GAP2 Gene

No Compound Related Data Available

Transcripts for RAP1GAP2 Gene

mRNA/cDNA for RAP1GAP2 Gene

CRISPR Products

Clone 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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for RAP1GAP2 Gene

  • Nervous system(4.4)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with RAP1GAP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 97.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAP1GAP2 33 32
  • 91.14 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAP1GAP2 33 32
  • 90.4 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rap1gap2 17 33 32
  • 89.55 (n)
rat
(Rattus norvegicus)
Mammalia Rap1gap2 32
  • 88.24 (n)
oppossum
(Monodelphis domestica)
Mammalia RAP1GAP2 33
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAP1GAP2 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAP1GAP2 33 32
  • 81.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAP1GAP2 33
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495015 32
  • 72.1 (n)
zebrafish
(Danio rerio)
Actinopterygii rap1gap2a 33
  • 70 (a)
OneToMany
rap1gap2b 33 32
  • 66.81 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rapgap1 33
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F53A10.2 33
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAP1GAP2: view image

Paralogs for RAP1GAP2 Gene

Paralogs for RAP1GAP2 Gene

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

  • RPGP2_HUMAN
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 Variation AA Info Type
rs1000004387 -- 2,875,712(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000012902 -- 2,966,091(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000042148 -- 2,920,369(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000046494 -- 3,023,108(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000047982 -- 2,805,061(+) T/C genic_upstream_transcript_variant, 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)

Additional Variant Information 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

Additional Disease Information for RAP1GAP2

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

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 AP (Blood 2005) 2 3 4 56
  2. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat BE … Tseng ZH (BMC cardiovascular disorders 2011) 3 43 56
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  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 research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 56
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 56

Products for RAP1GAP2 Gene

Sources for RAP1GAP2 Gene