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    RAP1GAP2 RAP1 GTPase activating protein 2 [ Homo sapiens (human) ]

    Gene ID: 23108, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RAP1GAP2provided by HGNC
    Official Full Name
    RAP1 GTPase activating protein 2provided by HGNC
    Primary source
    HGNC:HGNC:29176
    See related
    Ensembl:ENSG00000132359 MIM:618714; AllianceGenome:HGNC:29176
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GARNL4; RAP1GA3
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 11.5), bone marrow (RPKM 10.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAP1GAP2 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2755645..3037741)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2644826..2926040)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2658939..2941035)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2615428-2616323 Neighboring gene coiled-coil domain containing 92B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8011 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:2658382-2658591 Neighboring gene microRNA 1253 Neighboring gene MPRA-validated peak2687 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11499 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:2710701-2711302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2735911-2736411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2745057-2745556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2751037-2751628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2752811-2753401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2759426-2759948 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2775362-2776117 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2776873-2777628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2779141-2779895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2782927-2783844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2786639-2787300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2788221-2788974 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:2795785-2796984 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:2802958-2803170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2805995-2806657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2806658-2807320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2815301-2815822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2818323-2819076 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2824404-2824976 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2824977-2825547 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2828640-2829358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2829359-2830075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2834060-2834806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2834807-2835551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2835552-2836297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2842489-2843006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2843524-2844040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2850356-2850876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2850877-2851397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2851398-2851918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2860389-2861018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2859760-2860388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:2863407-2863948 Neighboring gene uncharacterized LOC101927911 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2868522-2869022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2869023-2869523 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:2898072-2898248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2898498-2898998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2914073-2914574 Neighboring gene olfactory receptor family 1 subfamily D member 5 Neighboring gene olfactory receptor family 1 subfamily D member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression, activation, and subcellular localization of the Rap1 GTPase in cord blood-derived human megakaryocytes. Balduini A, et al. Exp Cell Res, 2004 Oct 15. PMID 15383317
    2. Cyclic nucleotide-dependent protein kinases inhibit binding of 14-3-3 to the GTPase-activating protein Rap1GAP2 in platelets. Hoffmeister M, et al. J Biol Chem, 2008 Jan 25. PMID 18039662
    3. Synaptotagmin-like protein 1 interacts with the GTPase-activating protein Rap1GAP2 and regulates dense granule secretion in platelets. Neumüller O, et al. Blood, 2009 Aug 13. PMID 19528539
    4. Rap1GAP2 is a new GTPase-activating protein of Rap1 expressed in human platelets. Schultess J, et al. Blood, 2005 Apr 15. PMID 15632203
    5. Genome-wide interaction studies reveal sex-specific asthma risk alleles. Myers RA, et al. Hum Mol Genet, 2014 Oct 1. PMID 24824216, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Slp1 inhibits dense granule secretion in platelets and that Rap1GAP2 modulates secretion by binding to Slp1.
      Title: Synaptotagmin-like protein 1 interacts with the GTPase-activating protein Rap1GAP2 and regulates dense granule secretion in platelets.
    3. Platelet activation by ADP and thrombin enhances serine 9 phosphorylation and increases 14-3-3 binding to endogenous Rap1GAP2.
      Title: Cyclic nucleotide-dependent protein kinases inhibit binding of 14-3-3 to the GTPase-activating protein Rap1GAP2 in platelets.
    4. Rap1GAP2 is the first GTPase-activating protein of Rap1 found in platelets and is likely to have an important regulatory role in platelet aggregation
      Title: Rap1GAP2 is a new GTPase-activating protein of Rap1 expressed in human platelets.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide interaction studies reveal sex-specific asthma risk alleles.
    EBI GWAS Catalog
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1039, DKFZp686O238

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adaptive immune response TAS
    Traceable Author Statement
    more info
    		  
    involved_in regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of cell size IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rap1 GTPase-activating protein 2
    Names
    GTPase activating RANGAP domain-like 4
    GTPase activating Rap/RanGAP domain-like 4
    GTPase-activating Rap/Ran-GAP domain-like protein 4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013030.2 RefSeqGene

      Range
      45741..287044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001100398.2 → NP_001093868.1  rap1 GTPase-activating protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1. This variant is also known as variant a, as described in PMID: 15632203.
      Source sequence(s)
      AC015921, AC097370, AJ628447, BE208439, BU629928, CR627427, DN831680
      Consensus CDS
      CCDS45574.1
      UniProtKB/Swiss-Prot
      Q684P5
      Related
      ENSP00000389824.2, ENST00000366401.8
      Conserved Domains (1) summary
      pfam02145
      Location:263 → 442
      Rap_GAP; Rap/ran-GAP

    2. NM_001330058.2 → NP_001316987.1  rap1 GTPase-activating protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC005696, AC015921, AC097370, BU629928
      Consensus CDS
      CCDS82035.1
      UniProtKB/Swiss-Prot
      Q684P5

    3. NM_001411048.1 → NP_001397977.1  rap1 GTPase-activating protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (4).
      Source sequence(s)
      AC005696, AC015921, AC097370
      Consensus CDS
      CCDS92223.1
      UniProtKB/TrEMBL
      A0A1B0GV05
      Related
      ENSP00000490321.1, ENST00000637138.1

    4. NM_001411049.1 → NP_001397978.1  rap1 GTPase-activating protein 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC002316, AC015921, AC097370
      Consensus CDS
      CCDS92224.1
      UniProtKB/TrEMBL
      A0A8V8TKZ8
      Related
      ENSP00000513294.1, ENST00000697391.1

    5. NM_015085.5 → NP_055900.4  rap1 GTPase-activating protein 2 isoform 1

      See identical proteins and their annotated locations for NP_055900.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. This variant is also known as variant b, as described in PMID: 15632203.
      Source sequence(s)
      AC015921, AC097370, AJ628446, BE208439, BU629928, CR627427, DN831680
      Consensus CDS
      CCDS45573.1
      UniProtKB/Swiss-Prot
      B2RTY5, Q684P4, Q684P5, Q6AI00, Q6ZVF0, Q9UPW2
      Related
      ENSP00000254695.8, ENST00000254695.13
      Conserved Domains (1) summary
      pfam02145
      Location:278 → 457
      Rap_GAP; Rap/ran-GAP

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      2755645..3037741
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435668.1 → XP_047291624.1  rap1 GTPase-activating protein 2 isoform X3

    2. XM_011523739.3 → XP_011522041.1  rap1 GTPase-activating protein 2 isoform X1

      Conserved Domains (1) summary
      pfam02145
      Location:304 → 483
      Rap_GAP; Rap/ran-GAP

    3. XM_024450659.2 → XP_024306427.1  rap1 GTPase-activating protein 2 isoform X9

      Conserved Domains (1) summary
      pfam02145
      Location:319 → 441
      Rap_GAP; Rap/ran-GAP

    4. XM_047435669.1 → XP_047291625.1  rap1 GTPase-activating protein 2 isoform X5

    5. XM_011523741.3 → XP_011522043.1  rap1 GTPase-activating protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011522043.1

      UniProtKB/Swiss-Prot
      Q684P5
      Related
      ENSP00000439688.2, ENST00000540393.6
      Conserved Domains (1) summary
      pfam02145
      Location:259 → 438
      Rap_GAP; Rap/ran-GAP

    6. XM_017024371.2 → XP_016879860.1  rap1 GTPase-activating protein 2 isoform X4

    7. XM_047435667.1 → XP_047291623.1  rap1 GTPase-activating protein 2 isoform X2

    8. XM_011523742.3 → XP_011522044.1  rap1 GTPase-activating protein 2 isoform X6

      Conserved Domains (1) summary
      pfam02145
      Location:216 → 395
      Rap_GAP; Rap/ran-GAP

    9. XM_011523743.2 → XP_011522045.1  rap1 GTPase-activating protein 2 isoform X7

      UniProtKB/TrEMBL
      A0A8V8TL16
      Related
      ENSP00000513295.1, ENST00000697392.1
      Conserved Domains (1) summary
      pfam02145
      Location:231 → 410
      Rap_GAP; Rap/ran-GAP

    10. XM_011523744.3 → XP_011522046.1  rap1 GTPase-activating protein 2 isoform X8

      See identical proteins and their annotated locations for XP_011522046.1

      Conserved Domains (1) summary
      pfam02145
      Location:32 → 211
      Rap_GAP; Rap/ran-GAP

    11. XM_011523745.3 → XP_011522047.1  rap1 GTPase-activating protein 2 isoform X10

      Conserved Domains (1) summary
      pfam02145
      Location:62 → 119
      Rap_GAP; Rap/ran-GAP

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      2644826..2926040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315545.1 → XP_054171520.1  rap1 GTPase-activating protein 2 isoform X1

    2. XM_054315554.1 → XP_054171529.1  rap1 GTPase-activating protein 2 isoform X9

    3. XM_054315549.1 → XP_054171524.1  rap1 GTPase-activating protein 2 isoform X5

    4. XM_054315547.1 → XP_054171522.1  rap1 GTPase-activating protein 2 isoform X3

    5. XM_054315548.1 → XP_054171523.1  rap1 GTPase-activating protein 2 isoform X4

    6. XM_054315546.1 → XP_054171521.1  rap1 GTPase-activating protein 2 isoform X2

    7. XM_054315550.1 → XP_054171525.1  rap1 GTPase-activating protein 2 isoform X6

    8. XM_054315553.1 → XP_054171528.1  rap1 GTPase-activating protein 2 isoform X7

    9. XM_054315551.1 → XP_054171526.1  rap1 GTPase-activating protein 2 isoform X11

    10. XM_054315552.1 → XP_054171527.1  rap1 GTPase-activating protein 2 isoform X11

    11. XM_054315555.1 → XP_054171530.1  rap1 GTPase-activating protein 2 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q684P5.2 GenPept UniProtKB/Swiss-Prot:Q684P5

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