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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
External Ids for RAP1GAP2 Gene
- HGNC: 29176
- Entrez Gene: 23108
- Ensembl: ENSG00000132359
- UniProtKB: Q684P5
Previous HGNC Symbols for RAP1GAP2 Gene
- GARNL4
Previous GeneCards Identifiers for RAP1GAP2 Gene
- GC17P002646
- GC17P002680
Summaries 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
- Monarch Initiative
- Search for RAP1GAP2 at DataMed
- Search for RAP1GAP2 at HumanCyc
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
- 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:
-
- 17p13.3 by HGNC
- 17p13.3 by Entrez Gene
- 17p13.3 by Ensembl
RAP1GAP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- B2RTY5
- Q684P4
- Q6AI00
- Q6ZVF0
- Q9UPW2
Protein attributes for RAP1GAP2 Gene
- Size:
- 730 amino acids
- Molecular mass:
- 80056 Da
- Quaternary structure:
- No Data Available
Protein Expression 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
Other Protein References for RAP1GAP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-RAP1GAP2 Antibody (HPA022148) and Anti-RAP1GAP2 Antibody (HPA022896)
- Creative Diagnostics Anti-RAP1GAP2 (aa 700-730) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for RAP1GAP2
- Novus Biologicals Antibodies for RAP1GAP2
- Invitrogen Antibodies for RAP1GAP2 (AFLGC-RAP1GAP2)
- antibodies-online: Show 6 available RAP1GAP2 Antibodies ranked by validation data
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Quality Products:
Protein Products
- Atlas Antibodies PrEST Antigen RAP1GAP2 (APrEST75630) and PrEST Antigen RAP1GAP2 (APrEST75629)
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-
OriGene Purified Proteins for RAP1GAP2
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Quality Products:
Assay Products
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-
Quality Products:
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)
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 24284068 |
Phenotypes for RAP1GAP2 Gene
- MGI mutant phenotypes for RAP1GAP2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for RAP1GAP2:
Animal Models for RAP1GAP2 Gene
- MGI Knock Outs for RAP1GAP2:
-
- Rap1gap2 Rap1gap2<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for RAP1GAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RAP1GAP2
- genomics-online: gRNA clones - Search for available RAP1GAP2 gRNA products
- Overview of 89 available RAP1GAP2 gene related products
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- * RAP1GAP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * RAP1GAP2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAP1GAP2
miRNA for RAP1GAP2 Gene
- miRTarBase miRNAs that target RAP1GAP2
-
- hsa-mir-652-3p (MIRT039493)
- hsa-mir-149-5p (MIRT045523)
- hsa-mir-222-3p (MIRT046810)
- hsa-mir-181b-5p (MIRT047265)
- hsa-mir-6085 (MIRT570182)
- hsa-mir-4665-5p (MIRT570183)
- hsa-mir-1275 (MIRT570184)
- hsa-mir-5010-5p (MIRT570185)
- hsa-mir-615-5p (MIRT570186)
- hsa-mir-4525 (MIRT570187)
- hsa-mir-7111-5p (MIRT570188)
- hsa-mir-6870-5p (MIRT570189)
- hsa-mir-5698 (MIRT570190)
- hsa-mir-4723-5p (MIRT570191)
- hsa-mir-625-5p (MIRT570192)
- hsa-mir-6825-5p (MIRT570193)
- hsa-mir-7106-5p (MIRT570194)
- hsa-mir-5787 (MIRT570195)
- hsa-mir-4505 (MIRT570196)
- hsa-mir-765 (MIRT570197)
- hsa-mir-6738-5p (MIRT570198)
- hsa-mir-4731-5p (MIRT570199)
- hsa-mir-5194 (MIRT570200)
- hsa-mir-1914-3p (MIRT570201)
- hsa-mir-6884-5p (MIRT570202)
- hsa-mir-485-5p (MIRT570203)
- hsa-mir-4537 (MIRT570204)
- hsa-mir-637 (MIRT570205)
- hsa-mir-4720-3p (MIRT771439)
- hsa-mir-4804-3p (MIRT772573)
- hsa-mir-6793-3p (MIRT779321)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for RAP1GAP2
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- * RAP1GAP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * RAP1GAP2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for RAP1GAP2
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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 4 |
| plasma membrane | 3 |
- Cytosol (3)
- Nuclear membrane (2)
| 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 | -- |
Pathways & Interactions for RAP1GAP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Rap1 signalling | ||
Pathways by source for RAP1GAP2 Gene
3 Reactome pathways for RAP1GAP2 Gene
Interacting Proteins for RAP1GAP2 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| ARL6 | ||
| ENSG00000272822 | ||
| RASD2 | ||
| YWHAZ | ||
| AEBP2 |
GPS-Prot Interaction Network for RAP1GAP2
| 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 | -- |
No data available for SIGNOR curated interactions for RAP1GAP2 Gene
Drugs & Compounds for RAP1GAP2 Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen RAP1GAP2 (APrEST75630) and PrEST Antigen RAP1GAP2 (APrEST75629)
- Creative Biomart Recombinant Human RAP1GAP2 Protein, MYC/DDK-tagged
Transcripts for RAP1GAP2 Gene
mRNA/cDNA for RAP1GAP2 Gene
- (3) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (93) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000254695 6663 bps (ENST00000254695.12)
- ENST00000366401 6616 bps (ENST00000366401.8)
- ENST00000540393 3218 bps (ENST00000540393.6)
- ENST00000542807 3110 bps (ENST00000542807.1)
- ENST00000571555 4658 bps (ENST00000571555.1)
CRISPR Products
-
OriGene CRISPR knockouts for RAP1GAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RAP1GAP2
- genomics-online: gRNA clones - Search for available RAP1GAP2 gRNA products
- Overview of 89 available RAP1GAP2 gene related products
- Applied Biological Materials (abm): CRISPR Clones for RAP1GAP2 - Select products 50% OFF >
- * RAP1GAP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * RAP1GAP2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAP1GAP2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for RAP1GAP2
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Clone Products
- Sino Biological Human cDNA Clone for RAP1GAP2
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- * RAP1GAP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * RAP1GAP2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of RAP1GAP2 Gene:
RAP1GAP2SOURCE GeneReport for Unigene cluster for RAP1GAP2 Gene:
Hs.499659mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for RAP1GAP2
- genomics-online: primer clones - Search for available RAP1GAP2 Primer products
- Overview of 89 available RAP1GAP2 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RAP1GAP2 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RAP1GAP2 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | RAP1GAP2 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Rap1gap2 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rap1gap2 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RAP1GAP2 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RAP1GAP2 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RAP1GAP2 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | RAP1GAP2 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100495015 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rap1gap2a 33 |
|
OneToMany | |
| rap1gap2b 33 32 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Rapgap1 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | F53A10.2 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
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
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
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
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for RAP1GAP2 Gene
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- Overview of 89 available RAP1GAP2 gene related products
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Sources for RAP1GAP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
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